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POSTER PRESENTATION LISTINGS

Ernest N. Morial Convention Center
Halls D/E

See Posters section of General Information in this book for a complete viewing schedule. Poster sessions (when authors are present at their boards) are as follows: Tuesday, 4:30 pm–6:30 pm (Session I: A posters); Wednesday, 4:30 pm–6:30 pm (Session II: B posters); Thursday, 10:30 am–12:30 pm (Session III: C posters). In the poster presentation listings, A, B, or C follows the abstract number, indicating the day on which the presentation occurs. Within topic, posters are sorted by keyword (selected by the first author at the time of abstract submission and used to group poster presentations with a related theme), and then in alphabetical order by the last name of the first author.

Cancer Cytogenetics

287/A Isolation of the t(1;19)(q10;p10) associated with human oligodendrogliomas using Conversion Technology. R. B. Jenkins, H. Flynn, H. Blair, K. Meyer, P. Schneider, V. Marley, K. Schowalter, W. E. Highsmith.

288/B dup(15)(q15q25) as a sole anomaly in a case of polycythemia vera: Trisomy 15 in hematological disorders revisited. A. Adeyinka, S. Wei, J. Sanchez.

289/C Reciprocal Chromosomal Translocations, 47,XY, t(11;14) +der(14) t(11;14) (q25;q24.1), 46,XY,t(1;4) (q11-12;q11), 46,XY,t(6;9) (p21;q34) and 45,XY, der(13;15) (q10;q10): Four Mexican Pediatric Cases Report. J. Aparicio, M. Barrientos, M. L. Hurtado, C. Gil, R. Ruiz, W. San Martin, C. Salinas.

290/A The level of HER-2/neu gene amplification may correlate with some relevant histopathological features of early stage breast cancer. D. Bettio, G. Gullo, G. Masci, A. Venci, L. Di Tommaso, A. Santoro.

291/B Correlation among poor prognostic indicators in B-cell chronic lymphocytic leukemia (B-CLL). A. W. Block, P. K. Wallace, K. C. Miller, M. S. Czuczman, A. A. Chanan-Khan, S. Padmanabhan.

292/C Imatinib-induced CML remission as evidenced by automated FISH analysis predicts good outcome but is not achieved in patients with der(9) deletion within 30-month follow up. G. Calabrese, D. Fantasia, P. Guanciali Franchi, R. DiGianfilippo, E. Morizio, M. Alfonsi, A. Di Tecco, A. Marzoli, L. Stuppia, R. DiLorenzo, G. Palka.

293/A Determining relative values of interphase Panel FISH and conventional chromosome studies in hematological malignancies. R. A. Conte, L. A. Cannizzaro, D. T. Walsh, M. Zohouri, K. H. Ramesh.

294/B High resolution analysis of cytogenetic aberrations in hepatocellular carcinoma using oligo array CGH. A. De Witte, L. Guo, J. Collins, Y. Dragan.

295/C Replication Stress Induced Tumor-like Deletions of FRA3B in Human/Mouse Cell Hybrids. S. G. Durkin, R. L. Ragland, T. W. Glover.

296/A A Study of Mixed Mullerian Tumor with 13 Oncogene Probes. S. Faruqi, C. Harsch, H. Spector, J. Noumoff.

297/B Characterizing karyotypic evolution in adenocarcinoma of the pancreas. C. Griffin, J. Kowalski, L. Morsberger, A. Hawkins, A. Blackford, C. Yeo, R. Hruban.

298/C Identification of PML-RARA rearrangement by RT-PCR and sequencing in an acute promyelocytic leukemia without t(15;17) on G-banding and FISH. J. Han, K. E. Kim, K. H. Kim, J. S. Kim, J. I. Park.

299/A Nodular hidradenocarcinoma: molecular cytogenetic analysis of a sweat gland tumor in a young male. B. Horst, S. Volpert, C. Lee, H. J. Schulze, J. Atzpodien, J. Tchinda.

300/B Tumor marker in the serum proteins of Xiphophorus. A. I. Islam.

301/C HER-2/neu amplification, hyperdiploidy, and ERBB2 expression by IHC in breast cancers: a FISH analyses study of 165 cases. T. J. Jodlowski, D. T. Walsh, L. A. Cannizzaro, K. H. Ramesh.

302/A Application of whole genome tiling arrays to formalin-fixed paraffin embedded tissue: opening up the archives to cancer gene discovery. E. A. Maher, R. R. Selzer, D. Castrillon, P. S. Eis.

303/B Novel assay for detecting integrated HPV. P. McGrath, P. Moen, D. Hochberg, E. O'Lear.

304/C Identification of der(1;19)(q10;p10) in 5 oligodendrogliomas suggests mechanism of concurrent 1p and 19q loss characteristic of this tumor. L. Morsberger, K. Murphy, P. Burger, C. Griffin.

305/A A unique case of Alveolar Rhabdomyosarcoma with two translocations: t(2;13) and t(1;13), and amplification of N-myc in a 5-year-old child. R. Mosely, M. Liu, B. Myers, M. A. Thompson, T. McCurley, S. Shankar, V. G. Dev, A. Yenamandra.

306/B Analysis of Segmental DNA Changes in Cancer using GSP-Array7700™. Y. Murayama, S. Ozawa, S. Asakawa, Y. Saikawa, H. Hasegawa, H. Jinno, K. Aiura, A. Takayanagi, M. Maekawa, M. Kitajima, N. Shimizu.

307/C Chromosomal Abnormalities in Ependymal Tumors. T. Palm, C. Godfraind, M. Vikkula.

308/A Usefulness of Buccal Smears in Rapid Diagnosis of Congenital Myeloproliferative Disorders. K. Patel, S. White, P. Hsu, J. Jacob, R. Kazi, A. L. Zaslav.

309/B Identification of a cryptic 11;17 translocation resulting in a novel NUP98-PHF23 fusion in acute myeloid leukemia. J. C. Reader, J. S. Meekins, I. Gojo, Y. Ning.

310/C A unique rearrangement involving the BCL6, MYC, IGH and BCL2 loci in diffuse large cell lymphoma. L. Richmond, C. Aguilar, G. S. Bezzegh, J. Skierkowski, G. Hart, C. Berger, T. C. Brown.

311/A High resolution CGH of breast cancer. D. N. Roberts, C. A. Carmack, A. De Witte, S. Milligan, E. Lin, J. Gao, S. Giles, S. Shchegrova, E. LeProust, P. Webb, D. Amorese, J. Gregg.

312/B A t(4;11)(p12;q23) in a therapy-related acute myeloid leukemia. S. N. J. Sait, M. A. Claydon, M. Barcos, M. R. Baer.

313/C Complex chromosomal abnormalities in a child with advanced neuroblastoma. H. O. Shah, N. Chen, Q. Tao, Y. Zhong, J. H. Lin.

314/A Identification of a variant RARa gene rearrangement in a patient with acute promyelocytic leukemia. B. M. Shearer, J. G. Keefe, C. Rubin de Celis, A. Vendrell, R. F. McClure, E. C. Thorland, R. P. Ketterling.

315/B Loss of Y chromosome in patients with hematological disorders. E. Shin, L. Zhang, Z. Yu, H. Tian, Y. Fei, R. Aldrich, J. J. Mulvihill, S. Li.

316/C Genomic Evolution in Myelodysplastic Syndrome (MDS). C. Szych, R. Felgar, J. O'Malley, J. DeFeo, M. A. Iqbal, N. Wang.

317/A CGH analysis of a rare case of squamous cell carcinoma of the urachus of the bladder. W. Thelmo, M. J. Macera, J. Breshin, P. Chandra, A. Babu.

318/B Cryptic ins(4;11)(q21;q23q23): a variant of t(4;11)(q21;q23) in an infant with an immature B-ALL. C. A. Tirado, A. M. Meloni-Ehrig, T. Edwards, J. Scheerle, K. Burks, C. Repetti, J. C. Kelly, N. C. Christacos, J. Grenberg, C. D. Croft, D. Heritage, P. N. Mowrey.

319/C Telomeric associations in two cases of papillary renal cell carcinoma. J. Tsai, B. Huang, M. Thangavelu, N. Qin, M. LeMieu, S. Lass.

320/A Combined cytogenetic, aCGH and gene expression analyses of cisplatin resistant ovarian cancer cells. A. Tsalenko, M. Prasad, J. Paderova, C.-H. Lee, P. Marrano, Z. Yakhini, A. Ben-Dor, J. Squire, M. Barrett.

321/B Nearly identical haploid karyotype in two tumors, masked by the larger pseudo-diploid subclone. D. L. Van Dyke, S. Wei, K. G. Monaghan, P. Blunden, P. Mazzara, R. Raghavan, A. M. Oliveira, A. E. Wiktor, G. Keeney, R. P. Ketterling.

322/C Detection of Philadelphia chromosome (Ph) in a patient with no evidence of leukemia: further evidence of a changing paradigm? G. Velagaleti, J. Northup, K. Suleman, N. Panova, D. Hudnall.

323/A Genetic Profiling of Lung Cancer. V. Venkatraj, T. Bhari, G. Zhou, E. T. Castiglioni, J. C. Huber, P. W. Dunne, K. C. Donnelly.

324/B Impact of Cytogenetic Evaluation on Prognosis of Patients with AML. S. Viditio, K. Zamkoff, T. Mercado, D. Gladstone, A. L. Zaslav.

325/C Acute megakaryoblastic leukemia in an infant with t(1;22)(p13;q13) and complex secondary chromosomal aberrations including hyperdiploidy. D. Wei, K. H. Ramesh, D. T. Walsh, C. Johnson, V. R. Pulijaal, H. Ratech, E. A. Kolb, L. A. Cannizzaro.

326/A Concurrent but apparently unrelated structural rearrangements of the band p13 of both chromosome 16 homologs in a case of renal angiomyolipoma. S. Wei, C. Abbud-Mendez, M. W. Lee, A. Adeyinka.

327/B Complex chromosome rearrangement t(8;21)(p21;q22.1)inv(8)(p21q22.1), a novel variant of t(8;21) in acute myeloid leukemia. J. Xu, L. Mak, C. Richmond, R. C. Lohmann.

328/C Investigation of the CCND1 gene in a variant t(9;22;11)(q34;q11.2;q13) chronic myeloid leukemia. I. Yudelman, M. J. Macera, R. Zeng, J. Breshin, P. Chandra, A. Babu.

329/A The effects of cytogenetic factors on the survival of a child with ALL. H. Cangul, T. Yakut, T. Gulten, A. Meral, B. Baytan.

330/B Molecular Diagnostics in Dual Site Ovarian and Endometrial Cancers. S. J. Ramus, K. Elmasry, J. Whittaker, Z. Luo, A. Gammerman, N. Singh, W. G. McCluggage, A. Ayhan, K. Lu, I. J. Jacobs, S. A. Gayther.

331/C Sensitivity and specificity of detecting minor allele fractions through High-Resolution melting analysis. G. H. Reed, Y. Wang, C. T. Wittwer.

Cancer Genetics

332/A Differential expression profiling of oral squamous cell carcinoma identifies the involvement of a major signaling pathway. S. Chakraborty, S. M. A. Mohiyuddin, K. S. Gopinath, A. Kumar.

333/B Expression profiling of retinoblastoma and meibomian cell carcinoma using cDNA microarray. A. Kumar, S. K. Dorairaj, R. Prakash, C. P. Venkatesh, S. Chakraborty.

334/C Midkine as a prognostic marker and therapeutic target in osteosarcoma. H. Maehara, T. Kaname, K. Yanagi, I. Ohwan, K. Naritomi, F. Kanaya.

335/A Differential Gene Expression in Pediatric Embryonary Advanced Rhabdomyosarcomas. O. Perez-Gonzalez, A. Hidalgo-Miranda, I. Silva-Zolezzi, R. M. Rivera-Luna, G. Jimenez-Sanchez.

336/B S100A8, as a candidate of NF-kappa B pathway, participates in the genesis of laryngeal squamous cell carcinoma. K. L. Sun, W. N. Fu, D. F. Huang, Y. Guo, C. Shang, Z. M. Xu, X. H. Sun.

337/C KIT, PDGFRA, VEGFR2 and EGFR gene amplifications in primary and recurrent astrocytic brain tumors. M. Puputti, H. Sihto, O. Tynninen, T. Blom, H. Mäenpää, J. Isola, A. Paetau, N. Nupponen, H. Joensuu.

338/A Androgen Receptor (AR) and Estrogen Receptor alpha (ERa) Variants Have Minimal Impact upon Cancer Susceptibility in BRCA1 Mutation Carriers. S. Harbord, C. J. Brown, D. Horsman, S. Young, W. P. Robinson.

339/B Tagging single-nucleotide polymorphisms in excision repair cross-complementing group 1 (ERCC1) and risk of primary lung cancer in a Chinese population. H. Ma, L. Xu, J. Yuan, M. Shao, Z. Hu, F. Wang, Y. Wang, W. Yuan, J. Qian, Y. Wang, G. Jing, X. Huo, F. Chen, Y. Y. Shugart, L. Jin, Q. Wei, T. Wu, H. Shen, W. Huang, D. Lu.

340/C Molecular analysis of Tumor Suppressor genes in synchronous and metachronous secondary carcinomas of the upper aerodigestive tract. R. Birkenhager, W. Maier, G. Ridder, R. Laszig, J. Schipper.

341/A Utilizing array comparative genomic hybridization (aCGH) to characterize chromosomal stability in microsatellite stable (MSS) young onset rectal cancer. L. Boardman, R. Johnson, K. Hafner, A. Oberg, B. Morlan, R. Jenkins, S. Thibodeau.

342/B Comprehensive Genomic Analysis of Unilateral Retinoblastoma Tumors: Old Disease, New Clues. A. Ganguly, C. MacMullen, L. Swanson, S. Diskin, G. Grant, E. Rappaport, G. Bunin, C. Shields, A. Meadows, K. Nichols.

343/C Very early somatic genetic origins of cancer: Can somatic mosaicism of androgen receptor CAG repeat length in early stages of prostate growth and development be a predictor of future cancer? B. Gottlieb, K. Sircar, C. Alvarado, A. Aprikian, L. K. Beitel, M. Alam-Fahmy, L. Begin, M. Trifiro.

344/A Constructed eukaryotic expression plasmid of small hairpin RNA of PCNA and investigated the inhibitory effect on HeLa carcinoma cells. H. Huang, X. Tu, N. Yu, W. Wu, Q. Liu, W. Ma, J. Hao, Y. Yi.

345/B Characterizing genomic rearrangements in oligodendroglioma using whole genome tilepath hrCGH arrays. N. V. Johnson, J. J. Connelly, J. Virgadamo, R. E. McLendon, J. M. Vance, D. D. Bigner, S. G. Gregory.

346/C Characterization of genomic instability in Dukes B2 colorectal cancer. D. Marchetti, M. R. Iascone, G. D. Beretta, A. R. Lincesso, S. Mosconi, R. Labianca.

347/A The human single-strand DNA binding protein RPA rapidly associates with DNA breaks in vivo. I. Pasic, M. S. Meyn.

348/B Primary Care Screening for Hereditary Cancers. M. Kramer, J. Rispoli, T. Pollin, N. Khanna, S. DeLany.

349/C Analysis of the markedly increased incidence of cancer in individuals with Bloom's Syndrome. W. Shi, A. Zauber, M. Sanz, J. German.

350/A BRCA2 mutations in Utah high-risk prostate cancer pedigrees. K. Allen-Brady, J. M. Farnham, N. J. Camp, E. A. Ostrander, L. A. Cannon-Albright.

351/B Screening for APC gene mutations in 23 Chilean families with familial adenomatous polyposis: analysis of extracolonic manifestations. K. Alvarez, M. De la Fuente, A. Letelier, M. Acuña, F. Bellolio, F. León, F. López-Kostner, M. P. Carvallo.

352/C A founder mutation of MYH associated with adenomatous polyposis and colorectal cancer in North Africa. S. Baert-Desurmont, A. Rouquette, J. Mauillon, E. Bessenay, N. Soufir, I. Ratbi, A. Sefiani, H. Chaabouni, T. Frebourg.

353/A Single nucleotide polymorphisms of DNA repair gene XPC and risk of lung cancer in a Chinese population. Y. Bai, J. Yuan, Z. Hu, X. Yang, F. Wang, L. Xu, M. Shao, Y. Wang, W. Yuan, J. Qian, H. Ma, Y. Wang, H. Liu, F. Chen, Y. Liu, L. Jin, Q. Wei, H. Shen, D. Lu, T. Wu.

354/B Detection of genomic deletions of the TP53 gene in the Li-Fraumeni syndrome. G. Bougeard, S. Vasseur, C. Martin, L. Brugières, A. Chompret, B. Bressac-De Paillerets, P. Jonveaux, H. Sobol, L. Gladieff, P. Gesta, S. Baert-Desurmont, T. Frebourg.

355/C Germline CDKN2A coding mutations are rare in the majority of cutaneous melanoma patients. M. L. Council, J. Gardner, J. Ivanovich, C. Kamp, L. Cornelius, A. Bowcock.

356/A Two Novel SMAD4 Mutations and Nonclassical Pathology in Juvenile Polyposis Syndrome. C. Cremin, T. Moyana, E. Tomiak, M. T. Geraghty.

357/B Predominant Ashkenazi BRCA1/2 mutations in families with pancreatic cancer. E. Dagan, M. Haimi, R. Gershoni-Baruch.

358/C Negative BRCA1 immunohistochemistry and/or reduced RNA expression in ovarian tumors predicts germline BRCA1 mutation status. A. De Luca, J. Z. Press, S. Young, Y. Ridge, S. Kalloger, D. M. Miller, D. Horsman, C. B. Gilks, D. G. Huntsman.

359/A Birt-Hogg-Dube: A syndrome the geneticist should know. C. D. DeLozier, T. Treisman, Y. Chang, D. Tashjian, T. McCalmont, C. J. Curry.

360/B Novel Germline and Somatic Mutations of the MSH2 Gene in Hereditary Nonpolyposis Colorectal Cancer. D.-C. Ding, R. L. Huang, T. Y. Chu, K. S. Hwang.

361/C The Role of RUNX1 Gene Expression Variation in Down Syndrome-Related Leukemia. K. J. Duffy, M. Olivier.

362/A A novel FLCN gene mutation in a patient with bilateral renal tumors and no other clinical features of Birt-Hogg-Dubé syndrome. C. T. Dvorak, Y. Lien, G. Pridjian.

363/B Fine mapping and confirmation of linkage to chromosome 9q22 in colorectal neoplasia kindreds. C. Gray-McGuire, R. C. Elston, S. D. Markowitz, J. Potter, N. Lindor, G. L. Wiesner.

364/C Human SNM1 protein is a single-strand 5'-3' exonuclease acting in DNA crosslink repair. J. Hejna, S. Philip, C. Faulkner, A. Hemphill, J. Ott, R. Moses.

365/A Hereditary colorectal cancer: the French Canadian mutation spectrum. J. Jarry, G. Chong, I. Thiffault, S. McVety, S. Winocour, P. H. Gordon, G. Ouellette, I. Gorska, D. Farber, V. Marcus, R. Fodde, P. Hutter, W. D. Foulkes.

366/B SDHB and SDHD Mutations in Malignant Pheochromocytomas. R. Klein, L. Jin, K. Rumilla, R. Lloyd.

367/C Association of TNFa -308 G®A polymorphism and cancer risk. K. Kohut, T. Kirchhoff, N. Ishill, A. Zelenetz, J. Lee, K. Lafaro, K. Offit.

368/A A Robust and Sensitive Method For Detection of exonic deletions in the critical gatekeeper genes: VHL, APC, and RB1 By Multiplex Polymerase Chain Reaction (Mpcr) And High-Sensitivity High-Performance Liquid Chromatography (HS-HPLC). S. Lilleberg, J. Hempel, S. Edstrom, M. Nickerson.

369/B Microsatellite Instability in Chinese Epithelial Ovarian Carcinoma. X. S. Liu, Y. Lu, N. Zhong.

370/C Distribution of clinical data in prostate cancer affected men with early age at onset. D. M. Mandal, S. L. Halton, J. E. Bailey-Wilson, W. Rayford.

371/A Concurrent deleterious germline mutations in both BRCA1 and BRCA2 in a large series of patients. M. Martin, C. Frye, L. A. Burbidge, A. M. Deffenbaugh, D. Pruss, B. E. Ward.

372/B 185delAG in a Sri Lankan family with no Ashkenazi ancestry. W. Meschino, H. Dorman, J. Furnival, J. Guo, J. Honeyford, D. Kennedy, M. Shama, J. Steer, K. Chun, D. Allingham-Hawkins.

373/C Neoplasms in Myotonic Dystrophy. C. Mueller, R. T. Moxley, J. Hilbert, M. H. Greene.

374/A Colorectal Cancer Risks in Relatives of Young Onset Cases: greater in Sibs Than in Parents. S. K. Nigon, L. A. Boardman, B. W. Morlan, K. G. Rabe, G. M. Petersen, J. Goldberg, S. Gallinger, N. M. Lindor.

375/B Null evidence for linkage of familial breast and colon cancer to CHEK2. H. Ochs-Balcom, D. Daley, R. Elston, G. Wiesner.

376/C Population genetics of EWSR1, a highly conserved chromosome 22 breakpoint region. N. Orr, S. Savage, G. Thomas, S. Chanock.

377/A High frequency of SDHB mutations in a series of head and neck paraganglioma from Belgium. A. Persu, V. Grégoire, P. Garin, H. Reychler, G. Chantrain, G. Mortier, J.-F. De Plaen, M. Hamoir, M. Vikkula.

378/B The proposed association of ovarian cancer with Birt-Hogg-Dube syndrome. S. Randall Armel, A. Pintzov, M. Howe, B. Rosen.

379/C Semen analysis of patients with TGCT: correlation with Y chromosome 'gr/gr' deletion. E. Rapley, J. Coffey, R. Linger, D. Dudakia, J. Pugh, K. Lindsay, M. Stratton, R. Huddart, E. Rapley.

380/A Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumors (GISTs) in neurofibromatosis type 1. D. R. Stewart, C. L. Corless, B. P. Rubin, M. C. Heinrich, L. M. Messiaen, L. J. Kessler, P. J. Zhang, D. G. Brooks.

381/B Genetic services in satellite clinics: a model of delivery in three different communities. N. Stewart, B. Crawford, R. Lee, J. Mak, P. Conrad, M. Beattie, J. Luce, J. McLennan, J. Ziegler, V. Caggiano.

382/C Identification of a novel chromosome region 13q21.3-q22.3 for susceptibility genes in familial chronic lymphocytic leukemia. O. Toure, D. Ng, M. Wei, D. Arthur, G. Marti, L. Fontaine, J. F. Fraumeni, L. R. Goldin, N. Caporaso, J. Toro.

383/A Detection by functional analysis of splicing mutations in hereditary nonpolyposis colorectal cancer. I. Tournier, M. Vezain, F. Charbonnier, A. Martins, M.-P. Buisine, S. Olschwang, Q. Wang, T. Frebourg, M. Tosi.

384/B Neurotrophins, their receptors and EGR1: peculiarities of expression in human lung cancer and normal lung tissue. E. L. Voloshenyuk, L. V. Dergunova, N. M. Raevskaya, S. A. Limborska.

385/C Two novel bi-allelic MMR gene mutations: further evidence for a distinct syndrome with constitutional inactivation of DNA mismatch repair system. Q. Wang, J. Auclair, D. Leroux, F. Desseigne, J.-C. Saurin, C. Lasset, V. Bonadona, S. Pinson, M.-O. Joly, G. Montmain, A. Puisieux.

386/A hMSH2 Mutation Identified in a Family with Muir-Torre Syndrome: Genetic Counseling Perspective. Z. Wang, M. Flynn, M. A. Whalen, J. M. Milunsky.

387/B Pancreatic islet cell tumor in a germline CDH1 mutation carrier. S. M. Weissman, W. S. Rubinstein.

388/C Familial colorectal neoplasia is not associated with the TGFBR1*6A allele. G. L. Wiesner, W. Morgan, J. Willis, S. Lewis, S. D. Markowitz, R. Elston, D. Daley.

389/A The potential of Mad1 and Menin in breast cancer therapeutics. L. Andrews, T. E. Mott, S. M. O. Phipps, J. B. Berletch, T. O. Tollefsbol.

390/B Evidence of extra-telomeric effects of hTERT and its regulation involving a feedback loop. T. Tollefsbol, S. R. Lai, A. P. Cunningham, V. Q. Huynh, L. G. Andrews.

391/C Role of ATM during L1 retrotransposition. S. L. Gasior, P. L. Deininger.

392/A MC1R gene mutations in Jewish malignant melanoma patients. E. Friedman, G. Galore, E. Azizi, A. Scope, F. Pavlotsky, E. Yacobson.

393/B Gender-specific association of the UGT2B17 gene deletion with decreased glucuronidation of NNAL and increased risk for lung cancer. C. J. Gallagher, J. E. Muscat, A. N. Hicks, A. M. Dyer, G. A. Chase, J. P. Richie, Jr., P. Lazarus.

394/C Association of m2 and m4 CYP1A1 polymorphisms with Mexican lung cancer patients. M. Gallegos, V. Peralta, A. M. Puebla, G. M. Zúñiga.

395/A Screening for the modifier gene(s) involved in phenotypic variation and malignant degeneration of neurofibromatosis type 1. H. J. Kim, Y. R. Park, H. J. Jung, S. J. Park, S. Y. Jeong.

396/B LKB1 Tumor Suppressor Gene is Frequently Inactovated in Human Lung Cancers. T. C. Lai, M. S. Huang, H. M. Huang, M. Hsiao.

397/C Integrating Gene Arrays, Breast Cancer Families, and Evolutionary Genomics to Identify New Disease Genes for Risk Assessment. G. Larson, D. Smith, O. Snove, C. Lundberg, G. Rivas, J. Weitzel, C. Glackin, T. Krontiris.

398/A COE3, a Member of the Collier/Olf1/EBF Family of Transcription Factors, Is Silenced by Promoter Hypermethylation and Induces Apoptosis in Human Malignant Brain Tumors. W. T. Liu, A. Lo, P. Lai, P. B. Chen, M. Y. Lin, M. Hsiao.

399/B Association of the ERBB2 W452C Variant with Sporadic Breast Cancer. H. L. Patney, R. E. Ellsworth, C. D. Shriver.

400/C Physical Mapping of 7q22 Deletions and Identification of a New Candidate Gene in Uterine Leiomyoma. T. Ptacek, C. Song, C. L. Walker, S. M. Sell.

401/A Common genetic variation in ATM does not determine susceptibility to non-Hodgkin lymphoma. P. Sipahimalani, J. Spinelli, A. MacArthur, A. Lai, J. Connors, R. Gascoyne, R. Gallagher, A. Brooks-Wilson.

402/B Profiling Breast Cancer Cell Lines with High-density Oligonucleotide Array CGH. S. Yu, M. Jorda, C. Gomez, Y. S. Fan.

403/C Clinical Predictors of risk of Optic Pathway Glioma in Neurofibromatosis Type-1 patients. A. Mian, J. Perentesis, E. Schorry, H. S. Lee, R. Chakraborty, B. Chakraborty.

404/A Single nucleotide polymorphism-comparative genomic hybridization (SNP-CGH) of PBMC and buccal DNA from B-CLL subjects using the Illumina Human -1 SNP Genotyping BeadChip. A. Lee, N. Chiorazzi, K. Rai, A. Liew, P. Gregersen.

405/B Choosing the optimal platform and analysis for prostate cancer array CGH. A. Pearlman, T. Anantharaman, B. Mishra, H. Ostrer.

406/C Molecular characterization of low- and high-grade oligodendrogliomas. M. Gadji, A. M. Tsanaclis, D. Fortin, R. Drouin.

407/A An investigation into the ability of molecular modeling to explain the biochemical properties of a common mutation of the androgen receptor that allows prostate cancer tissues to grow in the absence of androgens. J. Southwell, S. Chowdhury, B. Gottlieb, L. K. Beitel, R. Lumbroso, E. Putisima, M. Trifiro.

408/B Molecular differences in breast tumors from African American and Caucasian women. R. E. Ellsworth, J. A. Hooke, C. D. Shriver.

409/C A novel 300bp Alu insertion in MSH2 causes Lynch Syndrome. M. Hegde, L. H. Chin, P. Ward, B. Roa, C. Eng.

410/A Loss of Heterozygosity in Normal and Pre-neoplastic Lung Tissue from High-Risk Patients. K. L. Meadows, D. M. Ducharme, C. Markunas, R. J. Slebos, M. P. Rivera, G. P. Flake, P. Stockton, J. A. Taylor.

411/B Discovery and Profiling of microRNAs that Regulate Cancer. G. A. Owens, C. H. Kim, J. Baer, X. Wu, E. R. D. J. Munroe.

412/C Quantitative Detection of EGFR 18-bp deletion by proofreading genotyping real time PCR. C. L. Zhou, L. Xiao, L. D. Liu, Y. F. Yin, L. L. Chen, K. Li.

413/A Polymorphisms in Cell Cycle Genes and Predisposition to Ovarian Cancer. S. Gayther, H. Song, S. Ramus, A. Whittemore, S. Krüger Kjær, P. Pharoah, Ovarian Cancer Association Consortium.

414/B DNA repair capacity as a lung cancer risk predictor in never smoker probands and their first degree relatives. O. Gorlova, S.-F. Weng, Y. Zhang, C. Amos, M. Spitz, Q. Wei.

415/C Methylation Specific PCR (MSP) analysis of APC tumor suppressor gene promoter in adenocarcinoma of stomach. M. R. Alivand, F. Rastgar, M. Zare.

416/A Analysis of LOH effect on TCO gene within Iranian population with Familial Non- Medullary Thyroid Carcinoma. H. Atashi Shirazi, M. Hedayati, A. Shafiee, M. Daneshpour, F. Azizi.

417/B Gene promoter methylation, genomic deletions and amplifications in biopsies from patients with hereditary breast cancer. M. P. Carvallo, C. Alvarez, T. Tapia, M. Vallejos, S. Smalley, M. L. Solis, A. Corvalán, M. Alvarez, E. Rozenblum, D. Munroe.

418/C Investigating the methylation status of genes which are responsible for the formation of conventional renal cell carcinoma. H. Onay, S. Pehlivan, M. Koyuncuoglu, Z. Kirkali, F. Ozkinay.

419/A FGFR1 overexpression and 5' CpG Island hypomethylation in primary rhabdomyosarcoma tumors. A. Orr-Urtreger, M. Goldstein.

420/B Butyrate mediates decrease of histone acetylation centered on transcription start sites and downregulation of associated genes. C. Wadelius, A. Rada-Iglesias, A. Ameur, S. Enroth, C. Koch, G. Clelland, P. Respuela-Alonso, S. Wolcox, O. Dovey, P. Ellis, C. Langford, I. Dunham, J. Komorowski.

421/C Population genetics and comparative genomics of FUS, a gene involved in malignant translocation. V. Bekker, N. Orr, S. Chanock.

422/A Knockdown of estrogen receptor alpha gene expression by siRNA in human breast cancer cell line. M. El-Zawahri, Y. Luqmany, A. Al-Azmi.

423/B A Preliminary Study on X-ray Repair Cross Complementing (XRCC) Gene Polymorphisms as Possible Biomarkers of Breast Cancer Susceptibility among Cypriot Women. A. Hadjisavvas, M. Loizidou, M. Daniel, E. Kakouri, S. Malas, Y. Marcou, K. Kyriacou.

424/C Analysis of the clinical relevance of intron variants in BRCA1 and BRCA2. M. P. G. Vreeswijk, J. N. Kraan, H. v. d. Klift, C. J. van Asperen, G. R. Vink, C. J. Cornelisse, P. Devilee.

425/A SNP association study of esophageal squamous cell carcinoma in a high-risk population from China. D. Ng, N. Hu, X. Y. Han, C. Giffen, Z. Z. Tang, A. M. Goldstein, M. P. Lee, P. R. Taylor.

426/B A genome-wide scan of nonsynonymous SNPs in a phase III clinical trial identifies variants influencing outcome in chronic lymphocytic leukemia. G. S. Sellick, R. Wade, M. F. Rudd, S. Richards, D. Catovsky, R. S. Houlston.

427/C The Development of Genomic SELEX for the Identification of Direct Transcriptional Targets of Pax3, FKHR and the Oncogenic Fusion Protein Pax3-FKHR. A. Sidhu, K. E. Johanson, R. J. Scioneaux, A. D. Hollenbach.

428/A Genotype Fidelity within DNA Extracted from Archival Tissue. J. Breyer, P. Schuyler, B. Elmore, B. Yaspan, K. Bradley, D. Page, W. Dupont, J. Smith.

429/B Surveyor nuclease scanning and DNA sequencing reveal a high frequency of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma tumors from Eastern Europe. M. L. Nickerson, E. Jaeger, J. A. Durocher, K. B. Walters, Y. Shi, S. Mahurkar, M. Smithhisler, L. S. Schmidt, J. R. Toro, B. Zbar, W.-H. Chow, G. F. Gerard, S. Lilleberg, F. M. Waldman, L. E. Moore.

430/C Single Nucleotides Polymorphisms (SNPs) in head and neck cancers. M. T. Ruiz, M. Floria-Santos, L. M. Alvarenga, E. C. Pavarino-Bertelli, P. E. M. Guimarães, E. Dias-Neto, M. J. C. Ruback, J. V. Maniglia, E. H. Tajara, E. M. Goloni-Bertollo.

431/A Characterization of the haplotypes, loss of heterozygosity and expression levels of glycine N-methyltransferase gene in prostate cancer. Y.-M. A. Chen, Y. C. Huang, C. M. Lee, Y. P. Shih, M. Y. Chung, Y. H. Chang, J. S. W. Huang, M. T. D. Ho, C. C. Pan, T. T. Wu, J. M. Hsu, S. Yang, M. W. Lin.

432/B Genetic polymorphism of CTLA-4 gene and cervical squamous cell carcinoma among Taiwanese women. T. Y. Chang, Y. C. Yang, Y. J. Lee, T. H. Su, C. K. Chen, H. F. Liu, C. C. Chu, M. Lin.

433/C How to associate the somatic mutations and a specific cancer. K. Li, L. Xiao, Y. F. Yin, J. Zhang.

434/A Cytochrome P450 CYP3A4 expression as a diagnostic biomarker in breast cancer. D. McDaniel, A. Lewis, C. Berry, W. Barber, P. Smith, S. Bigler.

435/B Human somatic microindels. W. A. Scaringe, K. Li, D. Gu, L. Chen, K. D. Gonzalez, K. A. Hill, S. S. Sommer.

436/C No association with risk of prostate cancer for LDOC1 and SPANX-C candidate genes within the HPC-X locus in a US Caucasian study population. J. R. Smith, B. Elmore, J. Breyer, K. Bradley, K. McReynolds, B. Yaspan.

437/A The L10P polymorphism of TGFb1 shows no association with prostate cancer in a US Caucasian study population. B. Yaspan, J. Breyer, B. Elmore, K. Bradley, K. McReynolds, J. R. Smith.

438/B Mitochondrial Haplogroup U and Prostate Carcinogenesis: Possible Roles in Both Prostate Cancer and High-Grade Prostatic Intra-epithelial Neoplasia (HGPIN). J. A. Canter, A. R. Kallianpur, J. L. Haines, J. H. Fowke.

439/C Comprehensive Scanning of the mitochondrial genome in patients with kidney oncocytoma. S. A. H. Zanssen, X. Hong, E. Kessel, B. Gunawan, L. Fuzesi, D. Warburton, E. Schon.

440/A Mismatch repair detection technology as a tool for high throughput somatic mutation screening. S. Bentivegna, A. Seymour.

441/B Four novel MLH1 and MSH2 mutations in Korean patients with HNPCC. J. R. Choi, S. Park, N. Kim, D. Lee.

442/C Characterization of chlorambucil induced chromosome deletions in mice using BAC array CGH. W. Liu, W. W. Cai.

443/A Detection of mosaicism in pooled human genomic DNA by bidirectional pyrophosphorolysis activated polymerization allele-specific amplification. J. Shi, Q. Liu, S. Sommer.

Cardiovascular Genetics

444/B SNP correlates with LDLR splicing efficiency in pre-menopausal women. K. E. Grear, H. M. Tucker, H. Zhu, S. Estus.

445/C An Ethnic-Specific Polymorphism in Glutamate Cysteine Ligase Affects Cellular Survival Following Oxidant Injury. T. M. Le, F. E. Barr, A. S. Willis, M. L. Summar.

446/A The rare nonsynonymous SCN5A-S1103Y variant in Caucasians is due to recent African Admixture as revealed by 100k SNP genotyping. A. Pfeufer, M. Akyol, M. Sinner, S. Jalilzadeh, A. Rauch, A. Reis, T. Illig, H. E. Wichmann, M. Hinterseer, S. Kääb, T. Meitinger.

447/B TBX5 Gene Expression is Regulated Through Two Nkx2.5 Binding Elements. G. Liguo, Q. Guangrong, X. Na, S. Kailai.

448/C SCNN1G variants are associated with systolic blood pressure in the Victorian Family Heart Study. C. J. Büsst, K. J. Scurrah, J. A. Ellis, S. B. Harrap.

449/A Analysis of Genetic Polymorphisms Associated with Cardiovascular Disease in Mexican Mestizo Population. E. Balam-Ortiz, J. K. Estrada, A. Inchaustegui, I. Silva-Zolezzi, K. Carrillo, G. Jimenez-Sanchez.

450/B Analysis of P2RY12 gene H2 haplotype in coronary artery disease and myocardial infarction. U. Cavallari, E. Trabetti, M. Biscuola, G. Malerba, D. Girelli, O. Olivieri, N. Martinelli, R. Corrocher, P. F. Pignatti.

451/C Identification of genes contributing to obesity associated cardiovascular disease (OCARD). Y. Dementieva, P. Wehner, T. L. Green, D. A. Primerano, J. Denvir, L. Wei, M. R. Flood, D. Calica, B. Freeman, M. Huff, S. Dodson, C. Hill, A. Frances, C. Taylor, B. Connors, K. McIntyre, R. Kreisberg, M. Davis, H. M. Lee.

452/A Genetic Variants in the Farnesyl-Diphosphate Farnesyltransferase Gene (FDFT1) Region is Associated with Susceptibility to Coronary Heart Disease. R. Do, S. D. Bailey, A. Montpetit, G. Pare, K. Desbiens, J. Faith, T. J. Hudson, D. Gaudet, J. C. Engert.

453/B The relationship between Glucokinase -30 G/A variant, early growth and adult metabolic phenotypes in a Finnish birth cohort. M.-R. Jarvelin, A. J. Bennett, U. Sovio, A. Ruokonen, H. Martikainen, A. Pouta, A.-L. Hartikainen, S. Franks, P. Elliott, M. I. McCarthy.

454/C TLR4 and cardiovascular and metabolic phenotypes in myocardial infarction survivors. F. Nyberg, T. Illig, M. Kolz, T. Bellander, F. Forastiere, K. Katsouyanni, J. Pekkanen, J. Sunyer, A. Peters, AIRGENE Study Group.

455/A Polymorphisms in the Vitamin D Receptor (VDR) that influence levels of intact parathyroid hormone have pleiotropic effects on bone mineral density and calcification of the coronary arteries and aorta. E. Rampersaud, D. McBride, E. A. Streeten, A. R. Shuldiner, B. D. Mitchell.

456/B Candidate gene medical sequencing: fast identification of causative variant candidates in genetically heterogeneous cardiac disease. S. E. Scherer, T. Xu, Z. Yang, N. E. Bowles, J. A. Towbin, G. Weinstock, R. A. Gibbs.

457/C Measured genotype analysis of neuropeptide Y levels in early-onset coronary artery disease. S. Shah, C. Newgard, L. Wang, M. Muehlbauer, E. Dowdy, S. Nelson, C. Haynes, J. Rombaut, G. Ginsburg, P. Goldschmidt-Clermont, J. Vance, W. Kraus, S. Gregory, E. Hauser.

458/A Association study of CRP gene polymorphisms with serum CRP level and cardiovascular risk in the NHLBI Family Heart Study. Q. W. Wang, S. C. Hunt, Q. Xu, M. A. Province, J. H. Eckfeldt, J. S. Pankow, Q. Song.

459/B Why is the Internal Thoracic Artery Resistant to the Development of Atherosclerosis? S. Archacki, G. Angheloiu, D. Schmitt, C. Moravec, S. Hazen, Q. Wang, Cleveland Clinic Foundation.

460/C Epistatic Effects of Polymorphisms in Genes from the Renin-Angiotensin, Bradykinin, and Fibrinolytic Systems on Plasma t-PA and PAI-1 Levels. F. W. Asselbergs, S. M. Williams, P. R. Hebert, C. S. Coffey, H. L. Hillege, G. Navis, D. E. Vaughan, W. H. van Gilst, J. H. Moore.

461/A Identification of Down syndrome heart defect candidate genes. L. J. H. Bean, K. J. Dooley, S. B. Freeman, T. C. Rosser, C. Oxforc-Wright, C. Kohler, G. Capone, S. L. Sherman.

462/B Kawasaki disease is strongly associated with common ancestral haplotypes of the major histocompatibility complex in Australian Caucasoids. D. Burgner, B. Edel, M. Odam, C. Witt, D. Sayer, S. Davila, M. Hibberd, F. Christiansen.

463/C Exploration of 100 cardiovascular candidate genes across different ethnic groups in the INTERHEART study. J. C. Engert, S. Yusuf, B. Keavney, G. Paré, D. Serre, A. Montpetit, M. McQueen, H. Cordell, T. J. Hudson, S. Anand.

464/A First 285 Human Subjects of "Genetics of Left Ventricular Outflow Tract Malformation" Study. S. M. Fitzgerald, G. A. Zender, K. L. McBride.

465/B Molecular diagnosis of hypertrophic cardiomyopathy with a high-throughput 12-gene DNA resequencing chip: the first 38 cases. S. Fokstuen, R. Lyle, A. Munoz, C. Gehrig, R. Lerch, M. Beghetti, A. Perrot, K. J. Osterziel, F. Mach, J. Sztajzel, S. E. Antonarakis, U. Sigwart, J. L. Blouin.

466/C Differential gene expression of cardiac muscle to ischemia in Atkins Diet dogs using Microarray data. C. A. Gregory, T. N. Masters, A. A. Fokin, F. Robicsek.

467/A Losartan modifies the predisposition for dissection in a mouse model of Marfan syndrome. J. P. Habashi, M. Gamradt, M. Awad, E. Klein, D. Bedja, H. C. Dietz.

468/B Determination of mitochondrial sequence variants in familial heart disease using resequencing arrays. M. K. Halushka, J. Albertus, B. R. Bishe, A. Chakravarti, R. D. Cohn, D. J. Cutler, N. Johnson, D. P. Judge, J. Lu, D. E. Arking.

469/C Genetic analysis of hypertrophic cardiomyopathy genes in noncompaction cardiomyopathy patients: could NCCM be a phenotypic variant of HCM? Y. M. Hoedemaekers, K. Kaliskan, F. J. ten Cate, D. F. Majoor - Krakauer, D. Dooijes.

470/A MYH7 and MYBPC3 gene mutations in pediatric hypertrophic cardiomyopathy. M. R. Iascone, D. Marchetti, A. Iacovoni, A. R. Lincesso, C. Mammana, S. Pentiricci, M. Triggiani, A. Gavazzi, P. Ferrazzi.

471/B Confirmation of Association between Variations in NOS1AP and the QT Interval in a Community-based U.S. Cohort. W. H. L. Kao, D. E. Arking, W. Post, P. M. Spooner, G. F. Tomaselli, E. Marban, N. Sotoodehnia, E. Boerwinkle, A. Chakravarti.

472/C Heredity of endothelin secretion: human twin studies reveal the influence of polymorphism at the chromogranin A locus, a novel determinant of endothelial function. E. O. Lillie, M. Mahata, S. Khandrika, F. Rao, R. A. Bundey, G. Wen, L. Taupenot, B. K. Rana, D. W. Smith, S. K. Mahata, M. G. Ziegler, N. J. Schork, D. T. O'Connor.

473/A A critical evaluation of phenotypes associated with mutations in the TGFb receptor genes. B. Loeys, U. Schwarze, T. Holm, B. Callewaert, G. Thomas, J. De Backer, P. Coucke, A. Braverman, A. De Paepe, H. Dietz.

474/B Left-Sided Cardiac Defects and Genetic Variants of the Folate-Homocysteine Metabolic Axis. P. C. Paluru, M. Mei, W. Huang, J. Garbarini, L. E. Mitchell, E. Goldmuntz.

475/C Characterization of aortic disease caused by MYH11 mutations. H. Pannu, V. Tran-Fadulu, S. Scherer, R. Gibbs, D. Divecha, C. Papke, Y. Liu, S. Duraisamy, D. Guo, A. Estrera, H. Safi, A. J. Marian, M. Buja, D. M. Milewicz.

476/A Genetic analysis of 100 loci for coronary artery disease and associated phenotypes in a founder population. G. Pare, D. Serre, D. Brisson, A. Montpetit, T. J. Hudson, D. Gaudet, J. C. Engert.

477/B Thirty percent of LMNA cardiomyopathy families manifest ‘complex disease’ in which some mutation negative family members are phenotype positive. S. Parks, J. Kushner, D. Nauman, D. Burgess, S. Ludwigsen, A. Peterson, D. Li, P. Jakobs, M. Litt, R. Hershberger.

478/C Constriction of the Region for Familial Combined Hyperlipidemia on 11p. C. L. Plaisier, C. J. van der Kallen, T. W. de Bruin, P. Pajukanta.

479/A Replication of the association between NOS1AP (CAPON) and cardiac repolarization in the Old Order Amish. W. Post, H. Shen, C. Damcott, A. Chakravarti, D. E. Arking, W. H. L. Kao, J. O'Connell, B. D. Mitchell, A. R. Shuldiner.

480/B Bicuspid aortic valve and other cardiovascular malformations are genetically heterogeneous. V. Ramachandran, L. J. Martin, L. H. Cripe, R. B. Hinton, M. Tabangin, K. Shooner, D. W. Benson.

481/C Peripheral Blood Gene Expression Signature Predicts Risk Profile of Thoracic Aortic Aneurysm. R. R. Samaha, Y. Wang, C. Barbacioru, F. Chan, J. Blake, N. N. Mehmet, D. Shiffman, O. Iakoubova, S. Balasubramanian, D. Ngadimo, M. Tranquili, G. Albornoz, J. A. Elefteriades.

482/A Sex-specific heritability and linkage of 1,373 traits in French-Canadian population. O. Seda, J. Tremblay, D. Gaudet, P. Brunelle, A. Gurau, E. Merlo, L. Pilote, T. Kotchen, A. W. Cowley, P. Hamet.

483/B Genetic characterization of the SCN5A gene in Korean patients with Brugada syndrome. E.-J. Seo, J. O. Lee, K. J. Kim, G. B. Nam, Y. H. Kim, K. H. Han, I. S. Park.

484/C A De Novo SCN5A Mutation (W1191X) Its Relation with Brugada Syndrome. D. J. Shin, E. M. Kim, Y. S. Bae, J. H. Han, Y. S. Jang, B. Y. Joung, M. H. Lee, S. S. Kim, H. Huang, M. Chahine, S. J. K. Yoon.

485/A LMNA mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans. K. Song, M.-P. Dube, J. Lim, I. Hwang, I. Lee, J.-J. Kim.

486/B Noonan's syndrome children with valvular pulmonary stenosis and left hypertrophic cardiomyopathy: clinical assessment and cytogenetic analysis. I. Trabelsi, S. Kammoun, M. Meddeb, T. Rebai, N. B. Abdelmoula.

487/C A novel mitochondrial DNA A4401G mutation is involved in hypertension in two Chinese pedigrees. S. Wang, H. Zhu, L. Yang, C. Lu, M. Guan.

488/A An extended angiotensinogen haplotype is associated with essential hypertension. W. S. Watkins, W. Tolpinrud, S. Hunt, G. H. Williams, J.-M. Lalouel, L. B. Jorde.

489/B Genetic association of LDLR SNP with plasma low density lipoprotein cholesterol level. H. Zhu, H. M. Tucker, R. K. Gopalraj, J. Simpson, L. A. Cupples, A. K. Manning, S. Estus.

490/C Relationship of peroxisome proliferation-activated receptor-gamma C161-T gene polymorphism with coronary artery disease in Han Race Chinese. J. Wan, J. Ren, Y. Ma, X. Tu, M. Cao, S. Xiong.

491/A Association and Haplotype analysis of GLI1 gene with simple congenital Heart Disease in 12q13. G. R. Qiu, L. G. Gong, X. Y. Xu, N. Xin, K. L. Sun.

492/B Human Cholestryl Ester Transfer Protein (TaqIB) Polymorphism among Filipinos with Cardiovascular Risk Factors. E. C. Cutiongco, R. S. Santos, F. R. Punzalan, F. B. Geronimo, R. V. Tangco, R. G. Sy.

493/C High heritabilities of metabolites in families from the GENECARD Study of early onset coronary artery disease. E. R. Hauser, S. H. Shah, C. B. Newgard, J. Bain, R. Stevens, B. Wenner, M. Muehlbauer, E. Dowdy, C. Haynes, G. S. Ginsburg, W. E. Kraus.

494/A Genetic variation in upstream stimulatory factor 1 (USF1) - a key transcriptional regulator of cardiovascular genes - associates with the severity of coronary atherosclerosis and risk of sudden cardiac death. K. Kristiansson, E. Ilveskoski, T. Lehtimäki, L. Peltonen, M. Perola, P. J. Karhunen.

495/B Association study of 7 ALOX5AP gene polimorphisms in patients with myocardial infarction or coronary artery disease. G. Malerba, U. Cavallari, L. Xumerle, E. Trabetti, M. Biscuola, N. Martinelli, O. Olivieri, D. Girelli, R. Corrocher, P. F. Pignatti.

496/C A QTL influencing both serum PAF-AH activity and LDL cholesterol concentration maps to the baboon ortholog of human chromosome 2p. A. Vinson, M. C. Mahaney, L. A. Cox, J. Rogers, J. L. VandeBerg, D. L. Rainwater.

497/A Genome-wide admixture mapping for coronary artery calcification identifies atherosclerosis locus on chromosome 6 in African-Americans. Q. Zhang, C. E. Lewis, L. E. Wagenknecht, R. H. Myers, J. S. Pankow, S. C. Hunt, K. E. North, J. E. Hixson, I. Borecki, M. A. Province.

498/B JAG1 mutations in patients affected by atypical Alagille syndrome. G. Massazza, D. Marchetti, P. Stroppa, L. Melzi, A. R. Lincesso, A. Sonzogni, G. Torre, M. Iascone.

499/C Association study in search for genetic backgrounds of myocardial infarction, focused on SNPs in genes encoding molecules that belong to lymphotoxin-a signaling cascade. K. Ozaki, H. Sato, A. Iida, H. Mizuno, M. Hori, Y. Nakamura, T. Tanaka.

500/A Whole Genome Scans for HDL-C in French Canadian Families Confirms a QTL on Chromosome 16q. Z. Dastani, M. Lemire, J. Faith, T. Hudson, D. Gaudet, M. Marcil, J. Genest, J. Engert.

501/B Association between the severity of angiographic coronary artery disease and paraoxonase-1 promoter gene polymorphism T(-107)C in Iranian population. E. Javadi, A. Jalilian, M. Doosti, P. Amiri, B. Shariati.

502/C A common b₂ adrenergic receptor haplotype is associated with protection against decrease in receptor sensitivity among smoking men. X. Bao, P. J. Mills, J. E. Dimsdale, M. G. Ziegler.

503/A Expression Analysis of Mouse Atherosclerotic Aorta Revealed Significant Dysregulation of Genes in the Calcium Signaling Pathway. S. K. Mak, B. Teng, L. C. Shimmin, J. E. Hixson.

504/B Assessment of ALOX5AP in two independent coronary artery disease studies. D. R. Crosslin, J. Rose, J. J. Connelly, C. Haynes, S. H. Shah, T. Wang, D. C. Crossman, C. B. Granger, J. L. Haines, C. J. H. Jones, J. M. Vance, P. J. Goldschmidt-Clermont, W. E. Kraus, S. G. Gregory, E. R. Hauser.

505/C PCSK9 variants are associated with reduced serum low-density lipoprotein cholesterol levels in childhood and adulthood. The Bogalusa Heart Study. M. Hallman, S. R. Srinivasan, W. Chen, E. Boerwinkle, G. S. Berenson.

506/A A QTL influencing blood pressure maps to the region of the essential hypertension susceptibility locus 3 (HYT3) on chromosome 2p in Alaskan Eskimos: the Genetics of Coronary Artery Disease in Alaska Natives (GOCADAN) study. S. Rutherford, S. L. Laston, R. B. Devereux, H. E. Resnick, J. G. Umans, S. O. E. Ebbesson, R. R. Fabsitz, B. V. Howard, J. W. MacCluer, A. G. Comuzzie, S. A. Cole.

507/B Expression profile study of atherosclerosis: microarray analysis in human coronaries with atheromas. M. Biscuola, S. Cagnin, C. Patuzzo, E. Trabetti, M. Iafrancesco, A. Forni, G. Faggian, A. Mazzucco, G. Lanfranchi, P. F. Pignatti.

508/C A novel DNAI1 mutation in Kartagener syndrome. I. Gutierrez-Roelens, K. Cefle, M. Vikkula.

509/A Investigation of somatic NKX2.5 mutations in congenital heart disease. J. M. Draus, M. A. Hauck, E. H. Austin, A. Tomita-Mitchell, M. E. Mitchell.

510/B Hypertensives show downregulated expression of adrenoceptor genes in arterial tissue. J. R. Dungan, C. Yucha, Y. Conley, J. Johnson, S. Kneipp, T. Langaee.

511/C Desmin splice variants causing cardiac and skeletal myopathy. A. Shatunov, M. C. Dalakas, K.-Y. Park, A. Dagvadorj, F. Muntoni, H. H. Goebel, L. G. Goldfarb.

Clinical Genetics, Malformations and Dysmorphology

512/A Low bone mineral density (BMD) scores are associated with osteoporotic type fractures in adults with Neurofibromatosis type 1 (NF1). L. Armstrong, P. Birch, H. Cheng, J. M. Friedman, D. A. Hanley, T. Y. Kydland, D. L. Kendler.

513/B Hemangioblastoma as a part of Tenascin-X deficiency spectrum. P. Blanchet, C. Coubes, J. Puechberty, L. Pinson, J. Schalkwijk, G. Lefort, P. Sarda.

514/C Identification of entire LMX1B gene deletions in nail patella syndrome: final evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. E. M. H. F. Bongers, I. J. de Wijs, E. Levtchenko, C. Marcelis, L. H. Hoefsloot, N. V. A. M. Knoers.

515/A FFU complex associated with agenesis of kidney: a case report. G. Contreras, J. C. Prieto.

516/B Familial amniotic band sequence with mutation of FOXC2 gene. C. Coubes, P. Blanchet, J. Puechberty, L. Pinson, S. Jeffery, G. Lefort, P. Sarda.

517/C The Ghosal disease gene maps to chromosome 7q33. B. Isidor, N. Dagoneau, C. Huber, D. Genevieve, B. Bader-Meunier, S. Blanche, C. Picard, M. C. De Vernejoul, A. Munnich, M. Le Merrer, V. Cormier-Daire.

518/A Chondrodysplasia Punctata in Infants of Mothers With Autoimmune Diseases. V. Kirkland, U. T. Sundaram, G. Brookshire, M. Nino, M. Bober, N. Braverman.

519/B A Japanese case of Oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. T. Kondoh, N. Okamoto, N. Norimatsu, H. Moriuchi.

520/C Cole-Carpenter as a severe skeletal dysplasia. G. Nishimura, M. Takeuchi, M. Nakayama, G. Knopfle, A. Superti-Furga, B. Zabel, S. Unger.

521/A Omosdysplasia: report of a case in sibs and review of the literature. N. L. M. Sobreira, A. B. A. Perez, M. C. P. Cernach, D. Brunoni.

522/B Clinical and radiographic delineation of Odontochondrodysplasia. J. Spranger, F. Antoniazzi, M. Brugnara, Y. Alanay, K. Lachlan, S. Ikegawa, G. Nishimura, S. Unger, A. Superti-Furga.

523/C A Japanese patient with a mild variant of Lenz-Majewski syndrome. D. Sumito, T. Kondoh, G. Nishimura, K. Motomura1, K. Yoshiura, A. Kinoshita, H. Kuniba, Y. Koga, H. Moriuchi.

524/A MATN3 (Matrilin-3) sequence variation (p.T303M) is a risk factor for osteoarthritis of the CMC1 joint of the hand, but not for knee osteoarthritis. A. Tagariello, O. Pullig, A. Schweizer, B. Swoboda, P. Schaller, A. Winterpacht.

525/B Association between a matrix metalloproteinase 3 promoter polymorphism and functional severity in a Japanese rheumatoid arthritis cohort. S. Tsukahara, K. Ikari, E. Inoue, S. Momohara, T. Tomatsu, M. Hara, H. Yamanaka, N. Kamatani.

526/C Case Report: short rib-polydactyly and macrocephaly, a novel syndrome? H. Y. C. Wanderley, L. O. Dewes, O. A. P. Artigalas, C. Deutschendorf, R. Giugliani, J. C. L. Leite.

527/A Radial ray and skeletal anomalies, but not aneuploidy, are associated with RECQL4 mutations in Rothmund-Thomson syndrome. L. L. Wang, C. A. Kozinetz, R. Naeem, M. Folsom, R. Krishnamurthy, S. E. Plon.

528/B Bruck Syndrome Seen in Consecutive Siblings. A. M. Zoumberakis, D. L. Broome, R. S. Lachman, R. W. Hassan.

529/C Hutchinson-Gilford Progeria Syndrome (HGPS): consistency of phenotype in 15 children. W. J. Introne, M. A. Merideth, L. B. Gordon, M. B. Perry, M. Turner, S. Clauss, V. Sachdev, J. Graf, A. C. M. Smith, L. H. Gerber, J. C. Reynolds, J. A. Yanovski, R. Cannon, W. A. Gahl.

530/A Natural history of aging in Cornelia de Lange syndrome. A. D. Kline, P. Sponseller, C. Pichard, M. Grados, D. Tuchman, H. Levy, A. Kimball, N. Blagowidow.

531/B Trends in the mortality of black children with sickle cell disease, United States, 1983-2002. E. A. Yanni, R. S. Olney, S. D. Grosse, Q. Yang, J. Xing.

532/C Mandibulo-facial dysostosis, acral anomalies, and frontonal dysplasia: a new form of Acrofacial dysostosis. M. C. P. Cernach, N. L. M. Sobreira, D. Brunoni, A. B. A. Perez.

533/A Neonatal Asymmetric Crying Facies: phenotype in monozygotic twins associated with preaxial polydactyly: a case report. C. Duran, G. Contreras, J. C. Prieto.

534/B Congenital myotonic dystrophy presenting as unexplained neonatal death. T. Friedberg, M. Thomas, D. Chitayat.

535/C SMN1 and SMN2 deletion of exons 7 and 8 concurrent in one family. T. Majidizadeh, S. Saber, P. Jamali, M. Houshmand.

536/A Interstitial chromosome 3q deletion in a newborn with hydrocephalus and hypoplastic kidney. S. Ramanathan, R. Woldenberg, S. Gupta, P. Koduru, L. Mehta.

537/B Megalencephaly, thick corpus callosum, dysmorphic facial features, seizures, enamel defect and mental retardation in two unrelated patients: a new syndrome? M. Rio, I. Desguerre, N. Boddaert, M. Le Merrer, A. Munnich, V. Cormier-Daire.

538/C Additional Report of Late-Onset Friedreich Ataxia (LOFA). H. Roberts, J. Bodurtha.

539/A Associated malformations in cases with neural tube defects. M.-P. Roth, Y. Alembik, B. Dott, C. Stoll.

540/B GABAergic dysfunction may modify clinical severity of Angelman syndrome. S. Saitoh, K. Egawa, K. Hosoki, N. Asahina, H. Shiraishi.

541/C The Mutation in the Renin Receptor (ATP6A2) Associated with X-linked Mental Retardation-Epilepsy (XMRE) Reduces ERK1/2 Activation by NGF in PC-12 Cells. C. E. Schwartz, J. Norris, K. J. Franek.

542/A Dissection of the roles of collybistin, a neuron-enriched GDP-GTP exchange factor, in synapse formation and function.ARHGEF9. A. Sertie, G. Alencastro, R. Passos Bueno.

543/B Development of objective tools to assess the number and volume of dermal neurofibromas in adults with Neurofibromatosis 1. A. Theos, A. M. Shih, Y. Ito, B. S. Burns, B. R. Korf.

544/C Families with nonsyndromic cleft lip with or without cleft palate (CL/P) have an increased frequency of lip print whorl patterns, which may be associated with IRF6. K. W. Chirigos, K. Neiswanger, K. M. Bardi, C. A. Brandon, M. E. Cooper, M. L. Marazita.

545/A Clinical Presentation and Diagnosis of Patients with Hutchinson-Gilford Progeria Syndrome. M. A. Merideth, W. J. Introne, L. B. Gordon, A. C. M. Smith, W. A. Gahl.

546/B KAL1 mutation in two brothers with Kallmann syndrome and previously unreported concurrent deafness and renal agenesis. D. M. Niyazov, D. J. Gruskin, P. M. Fernhoff, E. M. Dystrka, L. P. Chorich, L. C. Layman.

547/C Familial Borjeson-Forssman-Lehmann syndrome not associated with PHF6 mutation. M. Ottaviani, A. Zeffiri, L. Di Medio, L. Carosi, S. Toccafondi, S. Guarducci, L. Giunti, E. Lapi, M. L. Giovannucci Uzielli.

548/A Identification of copy number variants in non-isolated congenital diaphragmatic hernia (CDH+). D. A. Scott, M. Klaassens, A. Holder, K. P. Lally, C. Fernandes, A. de Klein, D. Tibboel, B. Lee.

549/B Families with multiple types of Idiopathic Interstitial Pneumonia (IIP) have decreased survival. A. Wise, M. Steele, M. Speer, J. Loyd, K. Brown, A. Herron, L. Burch, M. Schwarz, D. Schwartz.

550/C Molecular and clinical characterization of patients with putative Li Fraumeni Syndrome sent for p53 molecular diagnostic testing. K. D. Gonzalez, C. H. Buzin, K. A. Noltner, D. Gu, W. A. Scaringe.

551/A Lung cysts and Spontaneous Pneumothrorax: clinical and Genetic Associations among 198 cases of Birt-Hogg-Dubé Syndrome. J. R. Toro, S. Pautler, L. Stewart, G. Glenn, O. Toure, M. Wei, P. Choyke, B. Zbar, S. Steinberg, D. Nguyen, M. Linehan.

552/B Normal telomere length in 5p- with a telomerase reverse transcriptase TERT deletion. H.-Y. Du, R. Idol, S. Robledo, J. Ivanovich, D. B. Wilson, A. Londono-Vallejo, P. J. Mason, M. Bessler.

553/C Candidate genes for congenital diaphragmatic hernia from animal models: Mutation screening of FOG2, SIX1 and PDGFRA in 96 patients reveals rare variants. S. B. Bleyl, A. Moshrefi, G. Shaw, Y. Saijoh, G. C. Schoenwolf, L. Pennacchio, A. M. Slavotinek.

554/A Exon resequencing and mutation detection in syndromic esophageal atresia. A. Coffey, E. Howard, K. McLay, A. Dunham, S. Hunt, S. Leonard, J. Burton, J. Rogers, C. Shaw-Smith.

555/B Interactions Between Candidate Genes, Nutritional and Lifestyle Factors in Osteoporosis. S. L. Ferrari.

556/C CYP8B1 gene associated with gallstone disease in Chinese population. T. Han, J. Qin, Z. Niu, K. Zhang, Z. Jiang, Z. Jiang, S. Zhang, W. Huang.

557/A Mutation analysis of genes in the RAS-MAPK pathway in 31 patients with Kabuki syndrome. H. Kuniba, D. Sato, N. Miwa, N. Kurotaki, K. Yoshiura, T. Kondoh, T. Matsumoto, H. Tonoki, H. Ohashi, K. Kurosawa, T. Nagai, Y. Fukushima, N. Okamoto, K. Naritomi, N. Niikawa.

558/B Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. B. Menten, K. Buysse, J. Hellemans, T. Costa, C. Fagerstrom, G. Anadiotis, D. Kingsbury, F. Speleman, G. Mortier.

559/C Skeletal Muscle Phenotype on Autopsy in Paternal Uniparental Isodisomy of Chromosome 14. M. F. Wangler, E. M. McKay, M. B. Bhattacharjee, V. R. Sutton.

560/A Clinical and Genetic Phenotype of a Cohort of 34 patients with Micro-Anophthalmia. P. Bitoun, C. Edelson, B. Benzacken, E. Semina, L. Benzacken, J. C. Murray, J. Gaudelus.

561/B The Role of MMP2 and COL1A1 Genes in High Myopia in Young Taiwanese Men. H. Y. Hsieh, W. S. Zhang, K. S. Hung, H. S. Wang, C. L. Liang, S. H. Juo.

562/C The p53 codon 72 polymorphism is associated with primary open angle glaucoma in the Japanese population. F. Mabuchi, S. Tang, K. Kashiwagi, Z. Yamagata, H. Iijima, S. Tsukahara.

563/A Identification of a new locus of an X-linked dominant male-lethal isolated microphthalmia/anophthalmia/coloboma (MAC). N. Meola, D. De Brasi, M. Morleo, V. Ginocchio, T. Caramico, P. D'Adamo, O. Zuffardi, G. Sebastio, S. Banfi.

564/B Screening ARX Gene in Iranian Families with X-linked Mental Retardation. S. S. Abedini, K. Kahrizi, S. Esmaeeli Nieh1, F. Behjati, A. Aghajani, S. Ghasemi Firoozabadi, L. Abbasi, S. Banihashemi, A. Tzchach, H. H. Ropers, H. Najmabadi.

565/C X-inactivation patterns in Aicardi syndrome. T. N. Eble, P. Fang, W. Jin, V. R. Sutton, R. A. Lewis, I. B. Van den Veyver.

566/A Mutation spectrum in X-linked retinitis pigmentosa in the Danish population. H. Prokisch, M. B. Hartig, R. Hellinger, T. Meitinger, T. Rosenberg.

567/B Mutation screening of the ATRX gene in Japanese familial mental retardation. T. Wada, S. Saitoh, Y. Fukushima.

568/C Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndrome. W. Borozdin, A. M. Bravo Ferrer Acosta, E. Seemanova, M. Leipoldt, M. Bamshad, S. Unger, J. Kohlhase.

569/A Elevated levels of Low Density Lipoprotein are frequently seen in patients with Ehlers Danlos Syndromes. M. Burchett, A. Gustafson, B. Griswold, N. B. McDonnell, C. A. Francomano.

570/B Clinical and molecular study of 348 children with Marfan syndrome and related type I fibrillinopathies out of a series of 1057 probands with a pathogenic FBN1 mutation. L. Faivre, C. Stheuner, G. Collod-Beroud, P. Chevallier, A. Child, B. Callewaert, C. Binquet, E. Gautier, E. Arbustini, K. Mayer, A. Kiotsekoglou, P. Comeglio, B. Loeys, J. De Backer, P. Coucke, U. Francke, L. Ades, A. De Paepe, C. Boileau, G. Jondeau.

571/C Further delineation of the Williams syndrome genotype/phenotype correlation using a unique 3-generation familial deletion. A. S. Parikh, E. S. Siwik, C. A. Curtis, L. J. B. Jeng, S. E. McCandless.

572/A 45,X/46,XY Turner syndrome girl with complex congenital heart defect history. A. Sahnoun, I. Trabelsi, A. Ahlem, M. Meddeb Cherif, S. Kammoun, T. Rebai, N. B. Abdelmoula.

573/B Phenotypic Variation of Congenital Diaphragmatic Defects. K. G. Ackerman, S. O. Vargas, H. P. Kozakewich.

574/C Risk factors associated with a late Dental Exfolation in a small Mexican town with a High Consanguinity Degree. S. P. Arias, J. Aparicio, G. Quintanar, M. A. Parra.

575/A Increased prevalence of vitiligo and associated autoimmune diseases in a small inbred Romanian community. S. Birlea, P. R. Fain, R. A. Spritz.

576/B Another case with Uterine aplasia, ovarian dysgenesis, amenorrhea and impuberism: a variant from Mayer-Rokitansky-Kuster- Hauser syndrome or a coincidental association? M. Colombani, E. Sapin, D. Cau, N. Lentz, C. Thauvin-Robinet, F. Huet, L. Faivre.

577/C Phenotypic Spectrum of Adducted Thumbs: Case Report. M. Descartes, D. McIlvried.

578/A Familial Aortic and Cerebral Aneurysms: A Common Genetic Basis in a Subset of Aortic Aneurysm/Dissection Families. V. Fadulu, S. E. Smart, J. H. Chen, H. Pannu, L. Dechtenberg, D. Guo, D. M. Milewicz.

579/B Portal Hypertension Associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD). E. Font-Montgomery, I. Ocak, P. Choyke, L. Guay-Woodford, T. Heller, R. Kleta, P. Mohan, Z. Quezado, M. Gunay-Aygun, W. Gahl.

580/C Facioauriculovertebral spectrum on 250 Mexican patients. A. Garcia-Huerta, L. M. Rosales-Olivarez, M. Diaz-Garcia, C. F. Martinez-Cruz, G. Garcia-Sanchez.

581/A Multiple perineural thoracic cysts presenting as "neurofibromas". K. Gardner, J. Boardman.

582/B Congenital Diaphragmatic Hernia associated with Duplication of 11q23-qter. M. Klaassens, D. A. Scott, B. Lee, D. Tibboel, A. de Klein.

583/C Prenatal cytogenetic study and molecular genetic characterization of a de novo monosomy 1q42-qter. K. Krabchi, M. Ferland, A. Demers, A. L. Rougemont, H. Sartelet, R. Drouin.

584/A Defining Subphenotypes for Orofacial Clefts Based on Dental Development. A. Letra, R. Menezes, J. M. Granjeiro, M. E. Cooper, M. L. Marazita, A. R. Vieira.

585/B Supernumerary marker chromosome 17: new case report, delineation of the phenotype, and comparison with other segmental 17p duplications. R. McGoey, F. Tsien, M. Leake, M. Marble.

586/C Oral-facial-digital syndrome type I. Case report. D. M. Mendoza-Ugalde, G. García-Sánchez, C. F. Martínez-Cruz, A. García-Huerta, M. R. Baez-Reyes, M. Díaz-García.

587/A Subclinical orbicularis oris muscle (OO) defects are increased in relatives of individuals with nonsyndromic cleft lip with or without cleft palate (CL/P). K. Neiswanger, S. M. Weinberg, C. R. Rogers, C. A. Brandon, M. E. Cooper, K. M. Bardi, M. P. Mooney, J. M. Resick, F. W. B. Deleyiannis, A. Bowen, J. E. De Salamanca, M. L. Marazita.

588/B Clinical and molecular investigation of a patient with atypical Noonan syndrome. A.-M. Nystrom, G. Annerén, B. Stromberg, M.-L. Bondeson.

589/C Kabuki syndrome with Cenani-Lenz Syndactyly: case report. A. B. A. Perez, N. L. M. Sobreira, M. C. P. Cernach, D. Brunoni.

590/A Atypical Presentation of a Patient with Pityriasis Rubra Pilaris. J. C. Prieto, P. M. Hurtado, A. Motta.

591/B Six years' benefits of Deflazacort treatment for Mexican pediatric patients with Duchenne muscular dystrophy. R. Ruiz, J. Aparicio, A. Ortiz, M. A. Cubillo, F. E. Romero.

592/C Albinism and Developmental Delay in an African patient: emphasizing the need to test for 15q11-q13 deletion. R. Saadeh, E. C. Lisi, D. Riegert-Johnson, D. A. Batista, I. McIntosh, J. E. Hoover-Fong.

593/A An atypical presentation of systemic epidermal nevus syndrome in childhood. N. Shur, R. W. Marion, J. Samavich, J. Schaffer, A. Roe.

594/B Dental Anomalies as an Extended Phenotype of Orofacial Clefts: Genome Wide Reanalysis of 12 Multiplex Filipino Families. A. R. Vieira, G. Gamboa, M. Orbiso, T. Goldstein McHenry, M. E. Cooper, S. Daack-Hirsch, M. L. Marazita, J. C. Murray.

595/C A computerized interactive database for diagnosis and study of Atypical Spinal Muscular Atrophies. L. Viollet, I. Maystadt, N. Brahimi, S. Quijano-Roy, A. Munnich.

596/A Delineation of breakpoints in patients with 9q34.3 chromosomal rearrangements using fosmid array-CGH. S. A. Yatsenko, S. W. Cheung, C. Shaw, F. Scaglia, A. Patel, T. Sahoo, G. M. Weissenberger, C. Chinault, J. R. Lupski.

597/B Identification of a New Class of 1p36 Deletion Patients Using Array-CGH. C. A. Bacino, S.-H. L. Kang, A. Scheffer, P. A. Eng, J. T. Appleberry, J. Li, S. Vacha, E. R. Roeder, V. B. Enciso, S. Braddock, S. W. Cheung.

598/C Phelan-McDermid Syndrome: Deletion 22q13 characterized by comparative genomic hybridization microarray analysis and FISH with locus specific probes. P. I. Bader, S. C. Newman, F. J. Bader, S.-H. L. Kang, S. W. Cheung.

599/A Recurrent Interstitial Deletions of Proximal 18q: Description of a New Syndrome Involving Expressive Speech Delay. J. D. Cody, A. Malik, C. Sebold, P. Heard, A. Duran, E. Carter, D. E. Hale.

600/B Penoscrotal transposition and other anomalies in patients with distal 13q deletion syndrome. J. R. Corona-Rivera, J. Acosta-León, V. A. Gutiérrez-García, E. López-Marure, A. Corona-Rivera, L. Bobadilla-Morales.

601/C Complex chromosome 10q rearrangement with terminal deletion in a patient with multiple congenital anomalies. C. Daly, J. Mester, S. Hassed, S. Li, K. Casas.

602/A Clinical heterogeneity of familial CHARGE syndrome due to CHD7 mutation. A. Delahaye, S. Lyonnet, S. Wiener-Vacher, D. Bremond-Gignac, J. Amiel, C. Baumann, M. Elmaleh-Bergès, T. Attié-Bitach, A. Verloes, D. Sanlaville.

603/B Novel intraoral phenotypes in hyper-immunoglobulin E syndrome. D. L. Domingo, S. M. Holland, A. F. Freeman, J. Davis, T. C. Hart.

604/C Oromandibular limb hypoplasia: report of two patients in Colombia. R. Garcia, P. Paez, F. Suarez.

605/A Long QT, Syndactyly, Cardiac Defect, Joint Contractures and Stroke: Expanding the Clinical Spectrum of Timothy Syndrome, or a New Syndrome? J. Gillis, G. Gross, D. Chitayat.

606/B Identification of novel genes contributing to the severity of phenotype in chromosome 17 rearrangements. S. Girirajan, S. R. Williams, J. Garbern, D. J. Bunyan, E. Hatchwell, S. H. Elsea.

607/C Curry-Jones syndrome: A new case associated with trichoblastoma of the skin and a review of the literature. D. K. Grange, D. Berk, A. Lind, S. B. Mallory, B. Tapia.

608/A Do abnormalities of extracellular matrix elements lead to autoimmune disorders? Unexpectedly high incidence of rheumatologic disorders in persons with Ehlers Danlos Syndrome. A. Gustafson, B. Griswold, M. E. Burchett, S. H. Schurman, S. Ling, C. A. Francomano, N. B. McDonnell.

609/B New Autosomal Recessive Multiple Congenital Anomalies/Mental Retardation (MCA/MR) Syndrome Consisting of Fronto-Nasal Dysplasia, Hypertelorism, Short Stature, Brachydactyly and Speculated Irises. M. Haimi, R. Gershoni-Baruch.

610/C Investigation of age-related cognitive decline and memory loss among FMR1 premutation allele carriers. J. E. Hunter, E. G. Allen, A. Abramowitz, M. Rusin, R. Letz, M. Leslie, L. Shubeck, G. Novak, S. Sherman.

611/A A case of Whistling face autosomal dominant. P. M. Hurtado, I. Zarante.

612/B Ring chromosome 14: characterization of the phenotype with a novel finding, CGH delineation, long-term follow-up and literature review. I. Kalampokis, A. Iglesias, M. Macera, J. Breshin, A. Babu.

613/C Extreme phenotypic variations within a family with SALL1 mutations: isolated preaxial polydactyly to Goldenhar syndrome-like phenotype. K. Kosaki, R. Kosaki, H. Samejima, C. Torii, R. Fujimaru, H. Yamada, K. Iijima.

614/A Sleep Disturbance in Ehlers-Danlos Syndromes: related to Chronic Pain or an Independent Entity? K. W. Mandel, B. Griswold, C. A. Francomano, N. B. McDonnell.

615/B Case report of Zimmermann-Laband syndrome: patient affected with inter-auricular communications, and severe hand and feet compromise. Z. Martinez, F. Suárez.

616/C Clinical and molecular characterization of patients with microdeletions of 6p21. R. Mendoza-Londono, S. A. Yatsenko, D. Napierala, L. Medne, E. H. Zackai, K. Armfield Uhas, F. Kendall, S. Unger, A. Hunter, P. Stankiewicz, B. Lee.

617/A Congenitally adducted thumbs and cognitive impairment in a mother and her two sons. S. Nikkel.

618/B Anonychia-Onychodystrophy with Hipoplasia or Absence of Distal Phalanges (Cooks Syndrome): report of the first case in México. E. J. Ramirez-Lizardo, N. O. Dávalos-Rodríguez, S. E. Totsuka-Sutto, E. G. Cardona-Muñoz.

619/C CGH-based microarray analysis in a Caucasian newborn with NSD1 deletion and Sotos syndrome: identification of chromosome 5q35.2 microdeletion. J. D. Ranells, A. Patel, P. Eng, K. Pham, J. R. Lupski, S. W. Cheung.

620/A Detection of Duplication/Deletion of the PMP22 Gene in Patients with Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy with Liability to Pressure Palsy. M. Rostami, M. Dehghan Manshadi, S. M. Seyedhasani, A. Ebrahimi, M. Tonekaboni, M. Houshmand.

621/B TAPVR: a Cardiac Defect Associated with Alagille syndrome. P. A. Sanchez-Lara, I. D. Krantz, N. B. Spinner.

622/C Somatic Mosaicism for an HRAS mutation causes Costello Syndrome. K. Sol-Church, D. L. Stabley, L. Nicholson, J. D. Hoffman, K. W. Gripp.

623/A Voiding dysfunction: a previously unrecognized but surprisingly frequent complication of Down syndrome. A. Tanaka, T. Kondoh, M. Noguchi, T. Hatada, S. Tohbu, T. Matsuo, M. Matsuo, H. Kanetake, H. Moriuchi.

624/B High frequency of sex differentiation impairment in males with 9p- : a series of ten patients. L. Van Maldergem, C. Wetzburger, M. Francois, C. Heijmans, B. Candi, P. Mossay, J.-P. Stalens, Y. Gillerot, C. Fourneau, D. Sartenaer, B. Parmentier, P. Deschamps, M. Fellous.

625/C Phenotypic Variability of Vascular Ehlers-Danlos Syndrome in a Pedigree with a COL3A1 Mutation. J. Yang, W. Chen, J. Tran, N. B. McDonnell, C. A. Francomano.

626/A Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice. H. Yu, G. S. Tint, J. Chen, Y. Cai, G. Xu, S. B. Patel.

627/B Unusual Presentation of Epidermal Nevus syndrome. Y. Zarate, R. Hopkin.

628/C Partial trisomy 2p with congenital polyvalvular disease. D. N. Abuelo, L. Kochilas, U. Tantravahi.

629/A MCA/MR patients and array CGH analysis: report of 14 cases. R. Caselli, C. Pescucci, F. Mari, C. Speciale, M. A. Mencarelli, M. Bruttini, O. Zuffardi, R. Artuso, F. Ariani, E. Scala, A. Renieri.

630/B Detection of a cryptic deletion in a patient with a known duplication of 12q using CGH microarray analysis: Difficulties associated with genotype/phenotype correlations. N. Champaigne, J. McKenna III, M. J. Gambello.

631/C Very complex, de novo chromosomal abnormality in a newborn with multiple congenital defects: a counseling challenge. A. El-Hattab, M. Velinov, G. Valencia, A. Perenyi.

632/A Variable size and occurrence timing of CREBBP microdeletions in Rubinstein-Taybi syndrome. C. Gervasini, P. Castronovo, A. Bentivegna, A. Selicorni, F. Mottadelli, M. L. Uzielli, F. Faravelli, A. Pessagno, E. Lucci-Cordisco, A. M. Pinto, G. Neri, L. Larizza.

633/B Genetic and neural basis of Williams syndrome in a six-member family. J. R. Korenberg, X.-N. Chen, U. Bellugi, P. S. Eis, A. M. Galaburda, D. L. Mills, A. L. Reiss, T. A. Richmond, R. R. Selzer.

634/C Deletion 7q with FOXP2 involvement transmitted through a familial complex rearrangement. P. A. Lennon, S. W. Cheung, D. Peiffer, K. L. Gunderson, P. Hu, A. Patel, C. A. Bacino.

635/A Prader-Willi syndrome (PWS) in Taiwan. S.-P. Lin, H.-Y. Lin, J.-L. Yen, M.-C. Chao, D.-M. Niu, P.-L. Kuo.

636/B Long term implications of genetic diagnosis and genetic counseling for families with chromosomal abnormalities. T. Narumanchi, D. Wesley, J. Thoene, M. Li.

637/C Chromosomal aberrations and its association with recurrent ART failure. R. Prabu, R. Dada, R. Kumar, N. Gupta, K. Kucheria.

638/A Prognostic evaluation of trisomy 13 syndrome: review of 23 cases. K. Sameshima, H. Yoshihashi, Y. Igarashi, Y. Itani, M. Yamanaka, K. Kurosawa.

639/B De Novo 4q Partial Duplication with Congenital Cataract, Hypothyroidism and no Urogenital or Preaxial Limb Defects. A. Singer, A. Polishchuk, A. Aviram, C. Vinkler.

640/C Characterization of Two Female Patients with Pelizaeus-Merzbacher disease. R. Tenconi, L. Salviati, E. Trevisson, A. Friso, M. Clementi, O. Zuffardi, A. M. Laverda.

641/A Variable phenotype of 5p13 duplication involving NIPBL region by microarray analysis. A. C. Tsai, A. S. Teebi, R. Klatt, B. A. Bejjani, L. G. Shaffer, D. Terespolsky.

642/B Balanced 1;21 translocation associated with Kleine Levin syndrome. B. Tuysuz, L. Telvi, O. Kaya, N. Mütevelli, H. Kaynak.

643/C Genomic DNA isolated from semen: better diagnostic and prognostic marker of AZF status. R. Dada, R. Kumar, R. Kumar, K. Kucheria.

644/A A de novo case of Alpha-Thalassemia Mental Retardation Syndrome detected by genomewide analysis using BAC arrays. W. Gibson, C. Harvard, Y. Qiao, M. Somerville, S. Lewis, E. Rajcan-Separovic.

645/B Delineation of a de novo 3q deletion in a newborn girl using Comparative Genomic Hybridization (CGH). M. J. Macera, G. Kupchik, S. Krinshpun, D. Sullivan, A. Babu.

646/C Under- recognized early manifestation of Prader-Willi syndrome. Y. S. Choy, L. H. Ngu, W. T. Keng, S. K. Tan, Ruziana, L. C. Bok, M. Aminah, M. Z. Nirzila.

647/A Cutaneous Signs in Ehlers-Danlos Syndromes: The role of skin findings in determining the clinical diagnosis and predicting the genotype. W. Chen, J. Yang, B. Griswold, A. Gustafson, M. Burchett, C. A. Francomano, N. B. McDonnell.

648/B Premature Graying of hair: study of two large families with autosomal dominant inheritance. P. Y. Hasmukhlal.

649/C Agenesis of the corpus callosum with optic coloboma and colloid cyst: a possible new syndrome of cerebral development. J. Li, S. Shivakumar, M. Wakahiro, S. Stefanos, A. Slavotinek, J. Barkovich, P. Mukherjee, E. H. Sherr.

650/A Concordance between the definitive diagnostic status and reference diagnoses of birth defects and genetic diseases: the Harris County experience. F. Suarez, L. Potocki.

651/B A familial cases of LEOPARD syndrome associated with childhood onset behavioral disorder and Asperger syndrome. Y. Watanabe, S. Yano, M. Yoshino, T. Matsuishi.

652/C Incomplete medical follow up of birth defects patients in Bogotá Colombia. I. Zarante, F. Suárez.

653/A FINLAY-MARKS Syndrome: Thirty Year Follow-up in the affected one of two Dyzigotic Twins. A. Zeffiri, M. Ottaviani, M. Isoldi, S. Stagi, L. Di Medio, M. Levi, L. Carosi, L. Giunti, U. Ricci, M. L. Giovannucci Uzielli.

654/B Generation of a novel mouse model by targeted insertion of a PGK-NEO cassette into murine Zic3 locus: a mouse model of Goldenhar Syndrome/Oculo-Auriculo-Vertebral (OAV) spectrum? J. W. Belmont, L. Zhu, J. L. Peng, K. G. Harutyunyan, M. D. Garcia, M. J. Justice.

655/C Search for environmental and genetic factors of Congenital Heart Disease in Sao Miguel Island, Azores (Portugal). R. Cabral, R. Anjos, L. de Fez, P. R. Pacheco, C. Pereira Duarte, L. Mota-Vieira.

656/A Anterior cervical hypertrichosis: a case report. D. Garcia-Cruz, M. G. Lopez-Cardona, J. R. Corona-Rivera.

657/B Severe palpebral hamartoma and aplasia cutis congenita in a child with Schimmelpenning-Feuerstein-Mims syndrome. M. Gerard, D. Bremond, V. Desilets, M. Elmaleh, M. L. Jaquemont, C. Baumann, A. Verloes.

658/C Biological evidence of skeletal dysplasia in ancient Egypt. C. Kozma.

659/A Agenesis of lateral superior incisors: novel and reappraised evidence for familial aggregation. P. Maciel, C. Lemos, T. Pinho, A. Sousa.

660/B Discordance for ovarian dysgenesis in a pair of monozygotic twins. L. Matyakhina, J. Meck, A. L. A. Martin, M. M. Martin.

661/C A screen for novel microdeletions/duplications in fetal samples with multiple congenital anomalies. H. C. Mefford, A. J. Sharp, R. P. Kapur, D. G. Albertson, D. Pinkel, E. E. Eichler.

662/A A Non-coding SNP Is Associated With Lethal Congenital Contracture Syndrome. H. Nousiainen, N. Pakkasjärvi, R. Herva, M. Kestilä, L. Peltonen.

663/B Epidemiology of Congenital Malformations in Scotland. A. D. Rasalam, J. C. Dean, D. Clark, R. Dobbie, D. Tennyson.

664/C Narrowing in on the genotype-phenotype correlation in 1q terminal deletion syndrome. N. Scribanu, J. Meck, C. Kozma, J. Blancato, L. Matyakhina.

665/A Associated malformations in cases with oral clefts. C. Stoll, Y. Alembik, B. Dott, M. P. Roth.

666/B Mutational model leading to Polyalanine expansions and contractions revisited. D. Trochet, L. De-Pontual, B. Keren, A. Munnich, S. Lyonnet, J. Amiel.

667/C Clinical and molecular findings in Fraser syndrome: report of an Iranian consanguineous family with two affected offsprings. G. Vakili, Y. Shafeghati, M. Zenker.

668/A Tetramelic monodactyly: rare autosomal dominant condition with high rate of gonadal mosaicism. P. Wheeler, S. Rosenthal, M. Bamshad.

669/B High Myopia: A Genetic and Clinical Study Among Egyptian Patients. H. Elbastawisy, M. Salah.

670/C The use of genetic testing by pediatric otolaryngologists. S. Prucka, R. D. Duncan, B. J. Wiatrak, R. Smith, N. H. Robin.

671/A Severe cystic fibrosis with R117H/DF508 and 7T/9T polymorphism : difficulties in genetic counseling after newborn screening. C. Thauvin-Robinet, S. Pérez-Martin, A. Masurel-Paulet, A. Contrain, I. Sermet-Gaudelus, F. Chevalier-Porst, L. Faivre, F. Huet.

672/B Infant with Vascular Malformations most closely resembling Klippel-Trenaunay Syndrome with Hypoplastic Thumbs and Extensive Mongolian Spots. C. A. Bay, S. Morrill-Cornelius, R. G. Cadle, B. D. Hall.

673/C Identification of new and recurrent glucokinase mutations in Belgium and Luxembourg. W. Wuyts, D. Beckers, M. Craen, C. de Beaufort, K. Dahan, M. Giri, A. Van den Bruel, C. Mathieu, L. Vits.

674/A Development and validation of a Real Time PCR assay for detection of MECP2 gene rearrangements. D. del Gaudio, B. B. Roa, C. M. Eng, P. Fang.

675/B The Pompe Registry: Observations of diagnostic practices around the world. P. Kishnani, L. Merlini, B. Byrne, W. Mueller-Felber, A. van der Ploeg.

676/C The Clinical Utility of MLPA in Waardenburg Syndrome. J. M. Milunsky, T. A. Maher, A. Milunsky.

677/A The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the normal population and not a predisposing mutation for Klippel-Trenaunay syndrome. S. Gutiérrez, L. Magano, A. Delicado, M. A. Mori, M. L. de Torres, I. Vallcorba, L. Fernández, M. Palomares, E. Fernández, G. Rodriguez Tarduchy, J. Molano, I. López Pajares, P. Lapunzina.

678/B Functional association of an intron variant of CXCR3 with the risk of asthma. Y. Kim, J. W. Choi, M. Y. Hwang, H. S. Cheong, H. D. Shin, C. S. Park, B. Oh.

679/C Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Diagnosis and Intervention in Four Patients. Q. Abu Ali, C. Kozma, S. S. Kaufman, T. M. Fishbein, C. S. Matsumoto, Y. Rekhtman.

680/A Oculoauriculofrontonasal syndrome in a Mexican patient. L. E. Becerra, L. Arnaud, M. Diaz, J. M. Mantilla, J. A. Nastasi, M. Ortiz, J. E. Garcia, L. E. Figuera.

681/B Genotype/Phenotype correlations with Col2A1 and Col11A1 mutations in Stickler Syndrome. B. Griswold, M. Männikko, J. Wells, M. Majava-Elo, K. Mandel, J. Tran, P. Rose, H. Levy, R. A. Liberfarb, J. Davis, B. Rubin, Y. Szymko, E. Tsilou, M. Kaiser, A. Griffith, L. Ala-Kokko, N. B. McDonnell, C. A. Francomano.

682/C A clinical retrospective study of orofacial clefting frequency in different ethnic populations from the UCSF craniofacial clinic database shows Hispanics have a high frequency of additional anomalies. E. W. Y. Hsieh, R.-F. Yeh, S. Oberoi, K. Vargevik, A. M. Slavotinek.

683/A Novel autosomal dominant syndrome in a three-generation family with broad first digits, oral anomalies, and speech delay. V. Mardo, E. Lisi, D. Riegert-Johnson, S. A. Boyadjiev.

684/B Nonallelic Heterogeneity in Langer Mesomelic Dysplasia. P. D. R. D. Nicola, A. B. A. Perez.

685/C 27-hydroxy-7-dehydrocholesterol is an endogenous teratogen in Smith-Lemli-Opitz syndrome that decreases cholesterol levels in patients and increases phenotypic severity in mice. F. D. Porter, N. Javitt, M. F. Starost, M. Lyman, E. Leitersdorf, C. A. Wassif.

686/A Townes-Brocks Syndrome and Renal Disease. W. Reardon, R. Birkenhaeger, L. Casserly, J. Kohlhase.

687/B Anterior versus posterior teeth hypodontia in families. E. Severin, C. Albu, D. F. Albu.

688/C Classical Sotos syndrome with a Mutation in the NSD1 gene in a Two Generation Family. A. S. Teebi, R. E. Klatt, T. Ben-Omran.

689/A 3D morphometric analysis of the craniofacial complex in first degree relatives of individuals with orofacial clefts. S. M. Weinberg, B. S. Maher, M. P. Mooney, K. Neiswanger, M. I. Siegel, M. L. Marazita.

690/B Oculo-Facio-Cardio-Dental (OFCD) syndrome: two female patients with novel mutations in the BCOR gene. S. Whalen, S. Manouvrier, P. Bitoun, M.-P. Cordier, I. Bailleul-Forestier, M. Goossens, A. Verloes, I. Giurgea.

691/C A new case with Clavicular Hypoplasia, Zygomatic Arch Hypoplasia and Micrognathia. L. E. Wong-Ley, J. E. Garcia-Ortiz, A. Serralde, L. E. Figuera.

692/A Molecular genetic basis of the disease in a Spanish family with Usher syndrome type 1 and nonsyndromic deafness. E. Aller, T. Jaijo, M. Beneyto, C. Vilela, C. Nájera, C. Ayuso, J. M. Millán.

693/B Prevalence of vertigo in GJB2 deafness. K. M. Dodson, K. A. Arnos, S. K. Burton, R. S. Marin, K. O. Welch, V. Norris, S. Ackley, W. E. Nance, A. Pandya.

694/C Waardenburg syndrome type 3 or Klein-Waardenburg syndrome: a Mexican family. G. Garcia-Sanchez, C. F. Martínez-Cruz, D. M. Mendoza-Ugalde, M. Díaz-García, M. R. Baez-Reyes, A. Garcia-Huerta.

695/A Ulcerative colitis and sensorineural hearing loss: Mother and daughter in a Mexican family. L. Hernandez Gomez, S. G. Juarez Garcia, D. O. Gomez Torres, G. Garcia Sanchez, M. R. Izquierdo Ortiz, L. Acosta Ramos.

696/B Development of a genotyping microarray for Usher syndrome. H. Kremer, W. J. Kimberling, M. Külm, H. te Brinke, C. W. R. J. Cremers, L. H. Hoefsloot, F. P. M. Cremers.

697/C Thyroid phenotype associated with sensorineural hearing loss and enlarged vestibular aqueducts. A. C. Madeo, S. P. Pryor, Y. Yang, C. C. Brewer, C. K. Zalewski, J. A. Butman, K. S. Arnos, W. E. Nance, J. Thomsen, J. C. Reynolds, A. J. Griffith.

698/A Jervell and Lange-Nielsen syndrome. C. F. Martínez-Cruz, M. Marquez-Murillo, G. Garcia-Sanchez, D. M. Mendoza-Ugalde.

699/B Audiological manifestations in mexican patients with Down syndrome. L. A. Ramos, G. Garcia Sanchez, S. G. Juarez Garcia, L. Hernandez Gomez.

700/C Synergistic effect of two connexin-26 mutations results in profound hearing loss and inner ear malformation. B. Tinkle, A. Bedard, J. Greinwald.

701/A Hypogonadotrophic hypogonadism associated with a subtelomeric deletion of 9p chromosome in a girl. L. Telvi, C. Bouvattier, M. Minz, P. Bougneres.

702/B Severe phenotypic expression of Beckwith-Wiedemann syndrome associated with high levels of paternal uniparental disomy for chromosome 11p15. A. Smith, C. Shuman, L. Steele, P. Ray, R. Weksberg.

703/C Acquired microcephaly: patterns, causes and effects. A. S. Rigby, P. Baxter, M. Rotsaert, B. Steele, I. Wright.

704/A Genotype -Phenotype Correlation in Myotonic Dystrophy And CTG Repeat Polymorphism at the Myotonic Dystrophy Locus in Healthy Iranian Population. K. Kahrizi, N. Moradin, B. Shojasaffar, A. M. Cobo, S. Nafiisi, M. Hasanzad, A. Soltanzadeh, J. Lotfi, K. Gharegozli, H. Najmabadi.

705/B Homozygosity mapping discard genetic linkage to CNGA3, CNGB3 and GNAT2 in a large Colombian family with Achromatopsia. L. F. Cuesta, M. Gordillo, H. Vega.

706/C A novel ORF15 frameshift mutation of RPGR in a Chinese family with Dominant X-linked retinitis pigmentosa. J. Q. Sheng, Z. H. Tang, W. Chang, Q. B. Ding, P. Liu, T. Ke, F. G. Jiang, X. Ren, J. Y. Liu, Q. K. Wang, M. Liu.

707/A Behavioral phenotype of Cornelia de Lange Syndrome (CdLS). B. W. Clark, C. Landy, G. Jabbar, A. D. Kline, M. A. Grados.

708/B Deletion 10q26 in a patient with inv(10)(p11.23q21.2): clinical report and characterization by comparative genomic hybridization (CGH) microarray analysis and FISH with locus specific probes. S. C. Newman, P. I. Bader, F. J. Bader, S. Blend, D. E. Mensing, J. Li, S. W. Cheung.

709/C A Rare Form of Dextrojuxtaposition of the Left Atrial Appendage. M. Thompson, S. Keating, T. Cavalle-Garrido, D. Chitayat.

710/A The role of inflammatory genes in a gastric precancerous lesion. Y. Y. Tsai, S. W. Wang, I. C. Wu, R. Wu, D. C. Wu, S. H. Juo.

711/B Influence of MTHFR genotype on the teratogenic effects of antiepileptic drugs. U. Kini, R. Lee, A. Jones, S. Ramsden, A. Fryer, J. Clayton-Smith.

712/C Alcohol dehydrogenase genes, alcohol consumption and risk of orofacial clefts. P. A. Romitti, K. L. Rose, L. Sun, K. Malville-Shipan, J. C. Murray.

713/A Generation of novel mouse models for Down syndrome using a human artificial chromosome (HAC) vector system. J. Kudoh, K. Miyamoto, N. Suzuki, K. Sakai, S. Asakawa, M. Ikeno, T. Okazaki, N. Shimizu.

714/B Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan related phenotypes. N. Matsumoto, H. Sakai, A. Nishimura, T. Mizuguchi.

715/C ESRETNET: a Spanish network for the clinical and genetic study of inherited retinal disorders. J. M. Millán, D. Valverde, M. Baiget, G. Antiñolo, M. Carballo, C. Ayuso.

716/A Modifier genes substantially influence variability in severity of CF lung disease, independent of CFTR genotype and variation in body mass index. L. L. Vanscoy, S. Blackman, J. M. Collaco, A. Bowers, K. Naughton, G. R. Cutting.

717/B A case of renal hypouricemia with nephrotic syndrome and acute renal failure. K. Ichida, Y. Takeda, A. Abe, K. Hanaoka, S. Nakanishi, M. Umezu, M. Fukagawa, T. Hosoya.

718/C MYO7A mutation screening in Usher syndrome type I patients from diverse origins. T. Jaijo, E. Aller, M. Beneyto, C. Najera, C. Graziano, M. Seri, F. Moreno, C. Ayuso, J. M. Millan.

719/A The Benefit of MLPA in TSC 1 and 2 Analysis. T. A. Maher, A. Milunsky, M. Ito, J. Yang, J. M. Milunsky.

720/B Molecular diagnosis for fragile X syndrome in Korea. S. J. Park, J. A. Yang, S. Y. Jeong, H. J. Kim.

721/C Symptomatic monoallelic dimorphic mosaicism resulting from early embryonic mitotic mutations. U. Schwarze, D. L. Riegert-Johnson, H. C. Dietz, P. H. Byers.

722/A High-throughput Screening Genomic Deletions and Duplications in the Chinese DMD Gene by Using Array-based MLPA Approach. F. Zeng, Z. R. Ren, S. Z. Huang, C. L. Jin, M. Mommersteeg, M. Smit, S. Z. Huang, R. Beuningen, Y. T. Zeng, Y. Wu.

723/B A bivariate whole-genome linkage analysis identified several shared genomic regions contributing to both total body lean mass and femoral neck bone geometry in a Caucasian sample. S. F. Lei, F. Y. Deng, P. Xiao, D. H. Xiong, L. J. Zhao, H. W. Deng.

724/C Screening to find loci associated with cleft lip and palate. K. Osoegawa, G. M. Vessere, R. Pfundt, E. F. P. M. Schoenmakers, J. Staaf, A. Borg, M. A. Mansilla, B. C. Schutte, E. Lammer, J. C. Murray, P. J. de Jong.

725/A A de novo mutation in endoglin gene in a Japanese family with hereditary hemorrhagic telangiectasia. N. Matsui, Y. Izumi, H. Azuma, R. Kaji.

726/B Retrospective study of clinical and histological manifestations of IP in adults. C. Bodemer, A. Rimella, S. Fraitag, Y. de Prost, J. P. Bonnefont, A. Smahi, S. Hadj-Rabia.

727/C Linking collagen genotypes to molecular phenotypes. T.-F. Chan, N. Addleman, A. Poon, A. Phong, T. Klein, P. Byers, P. Y. Kwok.

728/A Fanconi Anemia: congenital abnormalities in patients homozygous for the FANCG637-643 deletion mutation. T. Haw, L. Wainwright, J. Poole, A. Krause.

729/B Implications for Clinical Management in Incomplete WAGR(O) Syndrome with an Atypical 11p13 Deletion. X. L. Huang, S. Jamal, H. F. L. Mark, T. A. Maher, J. M. Milunsky.

730/C Genetic Analysis of PHOX2B Gene in Congenital Central Hypoventilation Syndrome (CCHS). C. C. Hung, Y. N. Su, W. L. Lin.

731/A Compound heterozygous mutations in LMNA cause MADA phenotype. F. Lombardi, F. Gullotta, C. Catalli, V. Brugiati, S. Considera, A. M. Nardone, E. Grosso, G. Lattanzi, N. M. Maraldi, M. R. D'Apice, G. Novelli.

732/B RECQL4: one gene behind three syndromes with an increased risk for malignancies. H. A. Siitonen, H. Kääriäinen, M. Kestilä.

733/C Genotype-phenotype correlations for submicroscopic copy number variants. F. Zahir, A. Baross, A. D. Delaney, P. Eydoux, H. V. Firth, W. T. Gibson, S. Langlois, H. Martin, M. Marra, R. M. Pettett, A.-C. Thuresson, J. Vermeesch, L. Willat, S. L. Yong, J. M. Friedman.

734/A The Keratodermas: Dilemmas in Diagnosis and Treatment. R. Blackston, N. Brady, S. Dills, W. McLean.

735/B Global Impact of a Web-based Birth Defects Information System. W. Wertelecki.

736/C Surgical interventions in MPS I patients: a significant burden in all phenotypes. P. Arn, E. Wraith.

737/A Laryngeal Anomalies in Van Den Ende-Gupta Syndrome. O. A. Abdul-Rahman, J. D. Carron.

738/B Novel KRIT1 mutations mediating Cerebral Cavernous Malformations. N. Limaye, N. Revencu, L. Boon, M. Vikkula, The CCM Study Group.

739/C Clinical evaluation of Prader-Willi syndrome treated with growth hormone in early infancy. H. Yoshihashi, D. Ariyasu, T. Hasegawa, K. Samejima, K. Kurosawa.

740/A Obstetrics and Obstetrical Anesthesia Issues in Women with Dwarfism. J. Hoover-Fong, G. Oswald, D. Miller, J. Leadroot, H. Barnes, J. Rossiter, D. Krakow, D. Penning, I. Berkowitz.

741/B A statistical approach to predict the presence of a CHD7 mutation in patients with suspected CHARGE syndrome. J. P. Ferraro, M. S. Williams, C. M. A. van Ravenswaaij, L. H. Hoefsloot, M. C. J. Jongmans, M. A. Hefner, S. R. Lalani, S. D. Fernbach, A. A. Safiullah, J. W. Belmont.

742/C Partial tandem duplication of GRIA3 in a male with mental retardation. T. Chiyonobu, S. Hayashi, M. Morimoto, Y. Miyanomae, A. Nishimura, A. Nishimoto, C. Ito, I. Imoto, T. Sugimoto, Z. Jia, J. Inazawa, T. Toda.

743/A Beckwith-Wiedemann syndrome: report of a new case. G. Juarez Garcia, L. Hernandez Gomez, L. Acosta Ramos, D. O. Gomez Torres, T. Gomez Torres.

744/B Molecular analysis of a large FMR1 gene deletion. R. Polli, A. Casarin, L. Anesi, E. Leonardi, M. Martella, A. Murgia.

745/C A novel mutation at N-terminal of SMN Tudor domain inhibits its interaction with target proteins. H. Nishio, M. J. Lee, T. Kotani, R. Sutomo, A. H. Sadewa, T. H. Sasongko, Gunadi, M. Matsuo.

746/A Splicing products of dystrophin pre-mRNA in 49 cases with intraexonic small mutations in the dystrophin gene. A. Nishiyama, Y. Takeshima, M. Yagi, H. T. T. Tran, Y. Habara, M. Matsuo.

747/B Mutation analysis of the three FHM genes in a set of 29 sporadic hemiplegic migraine patients. B. De Vries, K. R. J. Vanmolkot, A. H. Stam, J. B. Koenderink, E. Babini, G. M. Terwindt, M. Pusch, A. M. J. M. Van den Maagdenberg, R. R. Frants, M. D. Ferrari.

748/C SIX3, ZIC2 and SHH mutations in a series of holoprosencephaly patients. J. Herbergs, S. Spierts, D. Tserpelis, H. Smeets.

749/A Sequencing of BBS2, BBS4 and BBS5 genes in nonsyndromic obesity patients reveals a small contribution of these genes that is likely to involve a multifactorial model. A. Slavotinek, B. Bogert, A. Moshrefi, M. Skhiri, A. Landin Malt, C. Vaisse, K. Ashrafi.

750/B Novel mutation in the triple helical coding domain of the COL1A1 gene of type I collagen (R780L) causes a mild form of osteogenesis imperfecta (OI). G. Sun, D. Chen, P. Byers.

Cytogenetics

751/C Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B. S. Schlaubitz, S. Yatsenko, L. Vissers, L. Smith, K. Keller, D. A. Scott, W. W. Cai, W. Reardon, O. Abdul-Rahman, E. Lammer, E. Magenis, J. Veltman, P. Stankiewicz, B. Zabel, B. Lee.

752/A Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation. A. M. Svensson, C. J. Curry, S. T. South, H. Whitby, J. Fisher, A. J. Brothman.

753/B Profiling Segmental Polymorphisms in the Human Genome Using High Resolution Fosmid Arrays. T. J. Jiang, W. L. Liu, S. S. Scherer, R. G. Gibbs, J. B. Belmont, P. H. Hixon, W. W. C. Cai.

754/C Inhibition of topoisomerase I prevents common fragile site expression. M. F. Arlt, R. L. Ragland, T. W. Glover.

755/A A novel “bioloop” strategy for labeling synthetic oligonucleotide probes. E. O'Lear, P. Moen, D. Hochberg, J. Trnovsky, P. McGrath.

756/B Telomere Shortening in T Lymphocyte Metaphases and Interphases and Individual Chromosomes 21 and 1, from Older Individuals with Down Syndrome and Dementia. E. C. Jenkins, M. T. Velinov, L. Ye, H. Gu, D. Pang, D. A. Devenny, W. B. Zigman, N. Schupf, W. P. Silverman.

757/C Radiation induced genomic damage in the presence of curcumin by comet assay in a murine model. L. Bobadilla-Morales, R. Silva-Cruz, K. Contreras-Venegas, C. Ortega-de la Torre, L. Ruvalcaba-Ortega, J. J. Vargas-Lares, M. A. Ramírez-Herrera, M. L. Mendoza-Magaña, J. R. Corona-Rivera, A. Corona-Rivera.

758/A Acute in vivo exposition to curcumin and copper by means of comet assay. A. Corona-Rivera, P. Urbina-Cano, L. Bobadilla-Morales, M. A. Ramírez-Herrera, M. L. Mendoza-Magaña, P. Díaz-Ezquivel, R. Troyo-Sanromán, J. R. Corona-Rivera.

759/B An unusual structural rearrangement involving chromosome 2 in a patient with dysmorphic features, developmental delay and Pierre-Robin sequence. V. Tonk, M. Sehrawat, M. Drummond-Borg, M. Ito, L. Lockhart, G. Velagaleti.

760/C X chromosome inactivation patterns in females with Prader-Willi syndrome. M. F. Theodoro, Z. Talebizadeh, D. J. Driscoll, M. G. Butler.

761/A Genome-wide microarray CGH analysis in patients with Aicardi syndrome. T. Mizuguchi, M. Kato, N. Matsumoto.

762/B Karyotyping analysis in mentally retarded children and babies born with dysmorphic features from pediatric Northwest India population. B. S. Chavan, S. Mishra, A. Sehgal, G. Kaur.

763/C Triplication of 4q32.1q32.1: a new syndrome with minimal clinical findings and Hirschsprung disease? M. J. M. Trip Nowaczyk, J. C. Wang, I. Teshima.

764/A Uncovering the complex nature of an Apparently Balanced Translocation by High Density SNP Oligonucleotide Microarray Analysis (SOMA) and High Resolution Comparative Genomic Hybridization. A. Sobrino, O. Nahum, V. Jobanputra, K. Anyane-Yeboa, Y. Sun, E. Bottinger, W. Zhang, D. Warburton, B. Levy.

765/B Functional centromere in a stable ring 5q13q34 in a child with mental retardation. M. Artigas-Lopez, S. Moreno, A. Pérez-Juana, A. Alonso, T. Durá, M. A. Ramos Arroyo.

766/C Detection and mapping of DNA copy number alterations in human chromosome 21 using tiling BAC arrays. F. Béna, C. Gehrig, G. Lopez, S. Gagos, J. M. Delabarre, A. Schinzel, S. Dahoun, J. Lespinasse, L. Taine, M. Doco-Fenzy, L. Colleaux, E. A. Y. Graison, M. Costantine, P. M. Sinet, S. E. Antonarakis, R. Lyle.

767/A A male with a small duplication at 17p11.2 (Smith-Magenis region) characterized by FISH and microarray CGH. J. Jung, J. Xu.

768/B Constitutional BCR gene deletion: a possible new microdeletion syndrome. F. M. Mikhail, M. Descartes, A. Piotrowski, R. Andersson, T. Diaz de Stahl, J. Komorowski, C. Bruder, J. P. Dumanski, A. J. Carroll.

769/C Large-scale blinded comparison of a commercially available array CGH platform to FISH for the analysis of subtelomeric abnormalities. E. Thorland, T. Gliem, P. Gonzales, A. Wiktor, R. Ketterling.

770/A Infertility and reproduction failure in autosomal translocations carriers. N. B. Abdelmoula, A. Amouri, M. Meddeb, A. Sallemi, T. Rebai.

771/B Craniometaphyseal dysplasia associated with de novo complex chromosomal rearrangement 46, XY, der(1)t(1;6;14)(q32;q13q22;q22), der(6)t(1;6),der(14)t(6;14)(q22;q22). B. Afroze, Y. S. Choy, A. Mekesat, Ruziana.

772/C "Double male" syndrome with Tetralogy of Fallot: report of the second case. M. Al-Atwi, H. Al-Girim, W. Eyaid, I. Amir.

773/A Effect of methylparaoxon on chromosomes from human lymphocytes, in vitro. I. Aranha, L. Almeida.

774/B De novo ring chromosome (13)(p11q13): a case report and review of literature. S. Batish, P. Koduru, G. Haberman, S. Gupta.

775/C Array-CGH reveals complex chromosome 8 rearrangement in a patient with supravalvular pulmonary stenosis. K. Buysse, B. Menten, B. Callewaert, B. Loeys, A. De Paepe, G. Mortier, F. Speleman.

776/A Detection of an interstitial deletion of 3q21 by Comparative genomic hybridization in a child with multiple congenital abnormalities and pancytopenia with myelodysplasia. P. Callier, M. Nathalie, J. Guy, C. Thauvin-Robinet, A. L. Mosca, F. Huet, L. Faivre, F. Mugneret.

777/B A novel dicentric chromosome 13 — a familial variant? K. Chun, S. Trevisiol, E. Capua, L. Hunniset, D. Allingham-Hawkins, L. Velsher.

778/C Mechanism of Isodicentric (Xq) Chromosome Formation in Turner Syndrome Patients. N. Cohen, N. B. Kardon, W. Edelmann, L. Edelmann.

779/A Validation of the Infinium™ Whole Genome Genotyping assay for segmental aneuploidy profiling. S. Colella, C. Yau, J. Taylor, G. Mirza, H. Butler, P. Clouston, A. S. Bassett, A. Seller, C. Holmes, I. Ragoussis.

780/B Longevity Collection at Coriell Institute for Medical Research: a Resource for the Study of Aging. D. L. Coppock, C. M. Beiswanger, B. Newman, B. A. Frederick, J. Leonard.

781/C De novo direct duplication of 9(p12p24): a case presentation, review of literature, and possible mechanisms of duplication. P. C. Cosper, A. J. Carroll, M. Descartes, L. Messiaen.

782/A An infertile male with apparent 45,X turned out to have 45,X,der(Y)t(Y;13)(q11.1;q11),-13; Clinicopathologic and cytogenomics studies. Y. X. Cui, X. Y. Xia, L. J. Pan, Y. H. Wang, J. Xu, Y. F. Huang.

783/B Gossypol-induced abnormal chromosome pairing during meiotic prophase of male mice (Mus musculus). X. H. Dai, M. G. Liu, Q. K. Wang, J. Y. Liu.

784/C Frequent tetraploid mosaicism in products of conception. E. M. Davis, T. Alexander, J. Malone, R. V. Lebo.

785/A Tetrasomy X: Report on one Mexican patient. M. Diaz-Garcia, A. García-Huerta, D. M. Mendoza-Ugalde, C. F. Martinez-Cruz, R. Baez-Reyes, G. Garcia-Sanchez.

786/B Translocation of neo(20qter->q13.2) to 22qter detected in prenatal diagnosis samples. R. E. Falk, D. L. Van Dyke, R. G. Meyer, R. A. Mota, D. Krakow, R. R. Schreck.

787/C Molecular characterization of the reciprocal translocation t(4,7)(q26;p15) in a patient with mental retardation and congenital defects. C. Fusco, L. Micale, S. Calvano, B. Augello, A. Reymond, M. Rocchi, L. Zelante, G. Merla.

788/A Translocation breakpoint mapping in four 1p36 subjects with der(1)t(1;22)(p36;q11 or q13). M. Gajecka, C. D. Glotzbach, K. L. Peterson, R. Saadeh, K. Spodar, M. Iliszko, D. Chitayat, B. C. Ballif, L. G. Shaffer.

789/B Clinical and cytogenetic findings in a child with mosaic 45,X/47,X, pseu idic(Y)(q11.2)x2 karyotype. S. Gupta, P. Koduru, D. Carey, L. Palmer, L. Mehta.

790/C Analysis of a de novo complex chromosomal rearrangement: t(4q;9q) with ins(Xq;4q) identified by FISH and defined by array-based comparative genomic hybridization in a patient with dysmorphic features. K. S. Hwang, Y. J. Chen, M. H. Tseng, D. C. Ding, Y. S. Yuh, J. S. Chang, S. W. Cheung.

791/A Cell Cycle in Adult Mesenchymal Stem Cells. R. Izadpanah, F. Tsien, C. Kriedt, B. Bunnell.

792/B Novel 22q11 deletions not mediated by Low Copy Repeats involving the Cat Eye Syndrome region. G. R. Jalali, J. A. Vorstman, T. H. Shaikh, A. M. Hacker, D. M. McGinn, E. H. Zackai, A. E. Urban, B. S. Emanuel.

793/C A female patient with Aicardi syndrome and Duplication of Williams Syndrome Critical region (7q11.23). P. Jayakar, J. Teppenberg, I. Gadi, M. Duchowny, J. Aicardi.

794/A Triplication of the 1p36.3 Region in Two Siblings with Seizure Disorder. S.-H. L. Kang, D. del Gaudio, P. A. Eng, M. L. Cooper, A. Scheffer, S. Vacha, C. A. Bacino, S. W. Cheung, T. Sahoo.

795/B Monozygotic twins of Smith-Magenis syndrome. R. Kosaki, T. Okuyama, T. Tanaka, O. Migita, K. Kosaki.

796/C De Novo Balanced Complex Chromosome Rearrangement (CCR) - 46, XY, t(8;10),t(8;12) associated with Autism Spectrum Disorder (ASD)- Cytogenetic, FISH and Microarray analysis. D. S. Krishnamurthy, M. Susan, M. Naveed, S. K. Murthy, K. Sperling.

797/A Prenatal detection of pure complete trisomy 1q: a case report. N. Le Meur, S. Patrier, V. Ickowicz, A. Laquerriere, M. Trehin, E. Verspyck, P. Leboullenger, T. Frebourg, A. Rossi.

798/B Chromosomal deletion syndrome 1q22-25. R. R. Lebel, B. J. Shutt.

799/C Pathogenic duplication or variant: molecular cytogenetic discrimination of proximal 15q and 8p23.1 as models. J. Lee, B. Bunke, D. Saxe, D. H. Ledbetter, C. L. Martin.

800/A Chromosome Analysis of Single Cells by High Resolution Comparative Genomic Hybridization after Whole Genome Amplification using A Random Fragmentation Approach. B. Levy, O. Nahum, K. Hirschhorn.

801/B 3q29 microduplication: a novel syndrome in a three-generation family. E. Lisi, A. Hamosh, B. Jackson, R. Galczynski, D. Batista.

802/C Mosaic structural rearrangements and the challenges they pose to cytogenetic laboratory. K. Mac, A. Zang, J. Cary, M. Samy, L. Drugan, R. Habibian, A. Hajianpour.

803/A Assessment of specimen storage and DNA integrity for optimal aCGH results. H. A. Marble, M. Lucas, T. Perez, M. Ziegler, K. Wilber, E. Pestova.

804/B Interstitial deletion of the long arm of chromosome 2 in a child with severe limb abnormalities and craniosynostosis : implication of the HOXD cluster? N. Marle, L. Faivre, P. Callier, A. L. Mosca, S. Beer, C. Thauvin, F. Mugneret.

805/C Molecular cytogenetic analysis of complex chromosome rearrangements. E. N. McDonald, G. S. Sekhon, J. B. Ravnan, D. M. Stenberg.

806/A Clinical, cytogenetic and molecular analysis of a female with partial trisomy X and a de novo Xp;Yq translocation. L. Miravalle, P. R. Delk, W. Torres-Martinez, D. D. Weaver, R. Stohler, V. C. Thurston, G. H. Vance.

807/B Meiotic segregation and location of chromosome breakpoints in rare Robertsonian translocations: sperm studies and molecular cytogenetic studies in 7 cases of rare rearrangements. K. Moradkhani, J. Puechberty, S. Bhatt, G. Lefort, P. Sarda, S. Hamamah, F. Pellestor.

808/C An Extra Structurally Abnormal Chromosome derived from a t(17;22)pat without phenotypic consequences. C. Morales-Peydro, E. Margarit, I. Madrigal, A. Soler, A. Sánchez.

809/A Balanced interchromosomal insertional translocation resulting in partial trisomy 3p in two brothers with mental retardation. A. L. Mosca, N. Marle, C. Thauvin, P. Callier, L. Faivre, F. Mugneret.

810/B Acentric supernumerary marker chromosome characterized as inv dup(3)(qter-q26.1::q26.1-qter) in a child with several dysmorphic features. S. K. Murthy, A. K. Malhotra, P. S. Jacob, S. Naveed, E. E. M. Al-Rowaished, S. Mani, S. Padariyakam, R. Pramathan, S. Lyndell, R. Nath, A. Redha, M. T. Al-Ali, L. Al-Gazali.

811/C Single Cell Aneuploidy Analysis by High Resolution Comparative Genomic Hybridization (CGH) after Whole Genome Amplification reveals Maternal Cell Contamination in the Original Products of Conception Culture. O. Nahum, V. Jobanputra, K. Hirschhorn, B. Levy.

812/A Chromosome 15q telomere imbalances: association of IGF1R with growth abnormalities. Z. Nawaz, D. H. Ledbetter, C. L. Martin.

813/B Exploring the role of maternal age and the location of recombination in chromosome 21 nondisjunction. T. R. Oliver, E. Feingold, S. L. Sherman, K. Yu.

814/C Detection of atypical duplications in 22q11.2 around the DiGeorge/Velocardiofacial region by array-based comparative genomic hybridization (Array CGH). Z. Ou, X. Lu, H. Yonath, E. Roeder, V. Enciso, A. C. Chinault, A. L. Beaudet, S. W. Cheung, A. Patel.

815/A Two new cases of analphoid markers from novel regions, 14q32 and Yp11.2/15q fusion. P. Papenhausen, I. Gadi, J. Tepperberg, P. Warburton, B. Pletcher, P. Chang.

816/B Prenatal diagnosis of inherited mental retardation: subtelomeric rearrangement mimicking an autosomal recessive condition. A. Perez-Juana del Casal, M. A. Ramos-Arroyo, M. Artigas, S. Moreno, A. Alonso, A. Valiente.

817/C Array-CGH increases detection rate of constitutional chromosome abnormalities. D. L. Pickering, D. M. Golden, R. J. Stroebele, B. J. Dave, W. G. Sanger.

818/A Chromosome 16p duplications: phenotype and microarray analysis. J. Puechberty, M. Noruzinia, A. Schneider, G. Lefort, J. De Vos, C. Coubes, P. Blanchet, V. Cacheux, P. Sarda.

819/B Mosaicism for supernumerary ring chromosome 17 resulting in partial trisomy of 17p11.1-17q23.3. S. M. Purandare, J. Walman, N. J. Carpenter, J. J. Mulvihill, J. R. Seely.

820/C Molecular characterization of a case with CHARGE syndrome like phenotype and partial 6p trisomy. I. Ragoussis, G. K. Mirza, L. Schimmenti, R. Clark.

821/A The human X chromosome in the etiology of Premature Ovarian Failure (POF): epigenetic control of the critical region on autosomal genes translocated to the X chromosome. F. Rizzolio, C. Sala, S. Bione, V. Causarano, S. Alboresi, M. Goegan, O. Zuffardi, D. Toniolo.

822/B Use of Array-CGH for Analysis of Patients with a Laboratory Referral Diagnosis of Autism Spectrum Disorder. T. Sahoo, W. Wells, S. W. Cheung, A. Patel, A. L. Beaudet.

823/C Disease Balanced Chromosomal Rearrangements and their relevance in genetic counseling. A. Sánchez-Díaz, C. Morales-Peydro, E. Margarit, I. Madrigal, M. Milà, A. Soler.

824/A Combined phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann Syndromes in a female with der(4)t(4;11)(pter;pter). A. Sathienkijkanchai, N. H. Robin, S. Prucka, J. Sanford Biggerstaff, J. Komorowski, R. Andersson, C. Bruder, A. Piotrowski, T. Diaz de Stahl, J. P. Dumanski, A. J. Carroll, F. M. Mikhail.

825/B Delineation of chromosome 9p rearrangements: a model for diverse chromosomal mechanisms of formation. S. Schwartz, C. Crowe, M. Graf, H. Mashek, S. Lillis.

826/C Ultra-high resolution oligonucleotide array CGH evaluation of a whole genome amplification protocol. R. R. Selzer, T. A. Richmond, S. M. Rupp, J. M. Geoghegan, P. S. Eis.

827/A Improved Detection of Genomic Disorders: Will Denser Arrays Identify New Syndromes? T. H. Shaikh, L. Medne, D. McDonald-McGinn, S. Saitta, C. Bonneman, E. H. Zackai.

828/B Array comparative genomic hybridization analysis of 20 first-trimester spontaneous abortions with "normal" karyotype. O. Shimokawa, N. Harada, N. Miyake, K. Satoh, T. Mizuguchi, N. Niikawa, N. Matsumoto.

829/C First report of two siblings with SMS due to maternal mosaicism. A. C. M. Smith, B. A. Pletcher, J. Spilka, J. Blancato, J. Meck.

830/A Proximal 10q trisomy syndrome resulting from a paternally inherited insertion of 10q11.2 to q21.3 with normal growth and ophthalmologic findings: implications for possible localization of gene(s) involved in growth regulation and/or eye development at 10q22. M. N. Strecker, A. M. Slavotinek.

831/B Mosaic status of lymphocytes in Klinefelter syndrome (KFS). M. Tanwar, R. Prabu, R. Kumar, N. Gupta, K. Kucheria, R. Dada.

832/C Familial Translocation with Partial trisomy 21 and Partial trisomy 18, manifesting as ADHD. C. Trujillo, N. M. Erfan, S. B. El Badawi, A. Hasanat.

833/A The first case of inherited submicroscopic terminal duplication 12q in non-affected mother and affected child. M. Velinov, N. Zellers, E. C. Jenkins, K. Wisniewski.

834/B 1p36 interstitial deletion and CVS mosaicism for add(1)(p36.1) in a child with asymmetry and multiple anomalies. J. Wagstaff, L. Shaffer, D. Boles, A. Baughman, F. Grass.

835/C A Structurally Abnormal X Chromosome with a Neocentromere in a Girl with Mosaic Turner Syndrome. B. T. Wang, P. E. Warburton, F. Cheung, X. J. Yang, M. Ayad, F. Z. Boyar, M. El Naggar, C. Zapata, J. Neidich, B. White, A. Anguiano.

836/A Hominoid lineage-specific evolution of low-copy repeats on 22q11.2 (LCR22s) provides mechanisms for genome plasticity. M. Babcock, S. Yatsenko, J. Hopkins, M. Brenton, Q. Cao, P. de Jong, P. Stankiewicz, J. R. Lupski, J. M. Sikela, B. E. Morrow.

837/B Epigenetic factors influence segregation of human artificial chromosomes in cultured mouse cells. A. Breman, R. Slee, C. Steiner, B. Grimes.

838/C Cryptic inversion X unbalanced recombination in newborn male. I. Gadi, J. Tepperberg, R. Slotnick, V. Jaswaney, J. Kesler, T. Royester, C. Bullen, T. Sapp, P. Papenhausen.

839/A Not sequence, but structure: palindrome-mediated translocation. H. Inagaki, T. Ohye, H. Kogo, B. S. Emanuel, H. Kurahashi.

840/B High density BAC clone mapping and visualizing genomic organization of satellite DNA by BAC fiber-FISH. Y.-C. Li, Y. M. Cheng, P. C. Hsu, T. S. Li, C. C. Lin.

841/C Why do de novo t(11;22)s arise only in sperm?: analysis using a yeast model system. T. Ohye, H. Inagaki, H. Kogo, B. S. Emanuel, H. Kurahashi.

842/A Further confirmation of the polymorphism in a chromosome-specific interstitial telomere-like sequence (ITS) located at 22q11.2. J. Yan, O. Samassekou, E. Bouchard, N. Bastien.

843/B MLS syndrome evaluated by prenatal karyotyping, FISH and array CGH. C. C. Cain, D. O. Saul, L. Attanasio, A. Hamosh, E. Oehler, K. Blakemore, G. Stetten.

844/C Array-CGH further defines constitutional supernumerary marker chromosomes (SMCs). C. M. Higgins, D. L. Pickering, M. Wiggins, D. Zaleski, A. H. Olney, G. B. Schaefer, B. J. Dave, W. G. Sanger.

845/A Chromosome Microarray Analysis (CMA) Detects a Large X Chromosome Deletion Including FMR1 and IDS in a Female Patient with Mental Retardation. F. J. Probst, E. R. Roeder, V. B. Enciso, M. L. Cooper, P. Eng, J. Li, Y. Gu, A. C. Chinault, Z. Ou, C. A. Shaw, S. W. Cheung, D. L. Nelson.

846/B Rare Copy Number Changes Identified In Congenital Heart Disease Using ROMA. D. Warburton, V. Jobanputra, K. Targoff, K. Anyane-Yeboa, M. Chen, J. Sebat, W. Chung, M. Wigler.

847/C Combined use of Cytogenetics, FISH and Array-CGH in Detection of Interstitial 7q Deletion. M. L. Wiggins, D. L. Pickering, D. H. Zaleski, I. S. Kanev, S. D. Nielsen, G. B. Schaefer, B. J. Dave, W. G. Sanger.

848/A Atypical 22q11.2 distal deletions detected by Chromosomal Microarray Analysis: Clinical significance and cytogenetic evaluation. S. Ben-Shachar, M. Hummel, J. Belmont, P. Eng, S. Bland, T. Appleberry, A. L. Beaudet, S. W. Cheung, A. Patel.

849/B Clinical Abnormalities in a Woman with Interstitial Deletion of the Short Arm of Chromosome 11. D. S. Bonner, B. A. Pletcher, G. A. Toruner, D. L. Streck, F. Alcid, F. Desposito.

850/C Complex chromosome rearrangement maps ectrodactyly-deafness (OMIM 220600) to chromosome 7q21.13. B. Dallapiccola, L. Bernardini, C. Palka, C. Ceccarini, A. Capalbo, R. Mingarelli, A. Novelli.

851/A SNP microarray analysis in an apparently balanced complex chromosome rearrangement. B. Hay, P. Minehart Miron, P. Crowley-Larsen, M. Ito, S. Ramakrishnan, X.-L. Huang, J. M. Milunsky.

852/B An X;Y translocation in a fertile, phenotypically normal female with a normal daughter and fatal fetal anomaly in a son. L. C. Layman, J. D. Bell, S. P. T. Tho, A. Kulharya, P. G. McDonough.

853/C Idiopathic Mental Retardation: a Brazilian study. M. Mulatinho, L. Moraes, T. Reis, L. Carvalho, M. Camilo, V. Moura, J. Santos, R. Boy, D. Horovitz, R. Zlot, M. Pimentel, H. Ramos, N. P. Rao, J. Llerena.

854/A Recurrent campomelic dysplasia due to a mosaic SOX9 deletion in a father. E. Obersztyn, M. Smyk, B. Nowakowska, E. Bocian, S. W. Cheung, T. Mazurczak, P. Stankiewicz.

855/B Male-to-female sex reversal due to an ~250 Kb deletion upstream of NR0B1 (DAX1). M. Smyk, J. S. Berg, A. Pursley, F. Curtis, B. Fernandez, G. A. Bien-Willner, J. R. Lupski, S. W. Cheung, P. Stankiewicz.

856/C Robotic Microscopy of Amniotic Fluid Cells for the Fully-Automated Quantitation of FISH Signals. T. Tafas, M. W. Kilpatrick, J. Tepperberg, S. M. Sharp, P. Tsipouras.

857/A Prevalence of 47,XXX, 47,XXY and 47,XYY in prenatal diagnosis. M. Thangavelu, B. Huang.

858/B Detecting Copy Number Polymorphism in CGH Tiling Array Data from Multiple Individuals using Hidden Markov Models. S. Zollner, N. Vinckenbosch, G. Abeçasis, H. Kaessmann.

859/C SNP-based microarray for the detection of submicroscopic chromosomal abnormalities. J. M. Kogan, T. A. Smolarek, M. Keddache, H. M. Saal, G. A. Grabowski.

860/A High-resolution mapping of partial trisomy breakpoints in Down syndrome patients using oligonucleotide tiling arrays. J. O. Korbel, A. E. Urban, X. N. Chen, E. Stein, M. B. Gerstein, S. Weissman, M. Snyder, J. R. Korenberg.

861/B Evolutionary structural dynamics of macaque chromosome 6 neocentromere. F. Antonacci, N. Archidiacono, A. Cellamare, P. D’Addabbo, E. E. Eichler, M. Rocchi, M. Ventura.

862/C False interphase FISH result due to chromosomal heteromorphism. L. Dong, A. Hajianpour, R. Habibian, D. Burkhardt, S. Kou, B. Diaz, Q. Huang, J. Chang, B. Huang.

863/A Molecular characterization of a pericentric inversion of chromosome 3 in a 3-generation family with short stature. U. Dutta, F. Matthes, K. Peisker, I. Hansmann, D. Schlote.

864/B Higher Incidence of Chromosome Duplications Identified by Array CGH Compared with FISH. J. H. Tepperberg, I. Gadi, B. Williford, D. Fuentes, J. Whaley-Davis, C. Legacki, J. Kesler, P. Papenhausen.

865/C A progress report on suspension FISH combined flow cytometry applied to detection of chromosomal abnormalities. X. Wu, Z. Chen, J. N. Lucas.

866/A Subtelomeric chip: novel assay for detection of subtelomeric and genome-wide aberrations. G. A. Toruner, D. Streck, J. J. Dermody, M. N. Schwalb.

867/B DNA secondary structure induces genomic instability leading to the recurrent 11;22 chromosomal translocation. T. Kato, H. Inagaki, H. Kogo, T. Ohye, B. S. Emanuel, H. Kurahashi.

868/C A de novo unbalanced t(7;13). A. Aboura, S. Kanafani, A. C. Tabet, M. Benkhalifa, E. Pipiras, B. Benzacken, C. Leonard, P. Landrieu, A. Verloes.

869/A Chromosome 2q37 Deletion Syndrome: defining Clinical Features. F. Lacbawan, M. Jones, A. Dutra, V. Rodriguez, S. Chandrasekharappa, E. S. Doherty.

870/B Minimal Phenotype Resulting from Mosaic Deletion of 11p12p14 in a Patient with Primary Dopamine beta-Hydroxylase Deficiency: identification and Characterization by High-Resolution Array-CGH. J. Li, M. L. Cooper, M. T. Geraghty, D. E. Mensing, K. D. Vonalt, Z. Ou, A. N. Pursley, A. C. Chinault, A. Patel, S. W. Cheung, T. Sahoo.

871/C Expression variation of HSA21 genes in Down syndrome and control individuals: understanding phenotypic variability in DS patients. P. Prandini, R. Lyle, M. Gagnebin, C. Gehrig, S. Deutsch, S. E. Antonarakis.

872/A Discontinuities and unsynapsed regions in meiotic chromosomes have a trans effect on meiotic recombination of some chromosomes in normal human males. F. Sun, M. Oliver-Bonet, T. Liehr, H. Starke, E. Ko, A. Rademaker, R. H. Martin.

873/B Development of a new array-MAPH methodology for detection of copy-number changes and screening of patients with X-linked mental retardation. A. Kurg, L. Kousoulidou, K. Männik, S. Parkel, O. Zilina, N. Tõnisson, C. Sismani, P. Palta, H. Puusepp, M. Remm, P. C. Patsalis.

874/C Microdissection-based genomic array analysis: what you see is what you get. J. Yu, Z. Qi, G. M. Rice, R. Selzer, T. Richmond, K. Thompson, S. Liao, R. M. Pauli, D. Albertson, D. Pinkel, J. E. Hearst.

875/A Genomic Copy Number Analysis Using High Density SNP Chips and Tiling Arrays. B. Merriman, Z. Chen, M. Ogdie, S. F. Nelson.

Development

876/B Redundant function of Smad1 and Smad5 during chondrogenesis. B. Keller, P. Hermanns, B. Zabel, B. Lee.

877/C Abnormalities in endochondral bone development in the Apert syndrome mouse model. Y. Wang, M. Sun, F. Yang, S. A. Shulby, J. Elisseeff, D. L. Huso, E. W. Jabs.

878/A Mis-expression of Zic2 and dominant-negative Zic2 in mouse ES cells results in abnormal proliferation and axon growth. S. Brown, L. Brown.

879/B Truncation of Cernunnos/XLF in a patient with polymicrogyria. V. Cantagrel, A.-M. Lossi, S. Lisgo, C. Missirian, A. Borges, N. Philip, C. Fernandez, C. Cardoso, D. Figarella-Branger, A. Moncla, S. Lindsay, W. B. Dobyns, L. Villard.

880/C Mosaic aneuploidies in the developing and adult brain. J. Chun.

881/A Analysis of the expression of mRib72-1/Efhc1 gene during mouse brain development. F. F. Conte, P. A. O. Ribeiro, L. Sbragia Neto, R. Gilioli, F. Cendes, I. Lopes Cendes.

882/B A canine model of pontocerebellar hypoplasia with anterior horn cell disease. J. C. Fyfe, R. J. Castellani, D. Rosenstein, D. Goldowitz, P. S. Henthorn.

883/C Increased Expression of a Neuron-Specific Isoform of the TAF1 Gene with Mouse Development and aging. S. Makino, G. Tamiya.

884/A Microarray expression profiling identifies genes with altered expression in the developing brain of an AGTR2-deficient mouse. T. Pawlowski, S. Heringer-Walther, C.-H. Cheng, J. Archie, C.-F. Chen, T. Walther, A. K. Srivastava.

885/B Identification of novel small RNAs in adult neural stem cells. K. Szulwach, X. Zhou, P. Jin.

886/C Multiplex, quantitative analysis of learning and memory related gene expression in rat hippocampus. Y. Wu, L. Tong, H. C. Chi, J. Luo, C. W. Cotman, S. K. Boyer.

887/A Spatiotemporal patterns of Bex1/2 expression in developmental mouse brains. J. Z. Yang, W. Ju, H. H. Zhu, J. Shen, G. Y. Wen, C. P. Corbo, R. Zhong, Y. Z. Zhang, J. H. Zou, W. T. Brown, N. Zhong.

888/B Epidermal expression of the Hutchinson-Gilford progeria syndrome mutation in transgenic mice. M. Eriksson, H. Sagelius, Y. Rosengardten, M. Hanif, M. R. Erdos, R. Varga, B. Rozell, F. S. Collins.

889/C Knock-in mouse model of Usher type IC. J. Lentz, F. Pan, S. Ng, P. Deininger, B. Keats.

890/A LINE-1 expression and retrotransposition in Human Embryonic Stem Cells. J. L. Garcia-Perez, K. S. O'Shea, J. V. Moran.

891/B X-linked heterotaxy: a disease of the cilia? S. Ware, S. Wang.

892/C The genetics of lateral fusion defects during female reproductive tract development. D. R. Cordero, H. Kim, D. J. Donovan, C. C. Morton, B. J. Quade.

893/A Apoptosis as a mechanism for caudal truncation in adrenocortical dysplasia (acd) mice. C. E. Keegan, A. S. Krause, M. J. Morley, T. Else, B. C. O'Connor, G. D. Hammer, D. O. Ferguson.

894/B The role of Wnt9b during primary palatogenesis. H. Mishima, S. A. Bullard, L. M. Moreno, T. Busch, M. Arcos-Burgos, C. Valencia, A. Hing, E. J. Lammer, M. Jones, N. Robin, B. S. Maher, M. E. Cooper, T. McHenry, M. L. Marazita, A. C. Lidral.

895/C Knocking-Down KIF3A in Neural Crest Cells Results in Craniofacial Dysmorphologies. N. Allen, S. Brugmann, J. A. Helms.

896/A Wnt Signaling in Craniofacial Patterning. S. Brugmann, A. Gregorieff, P. Leucht, H. Clevers, J. Helms.

897/B Analysis of BBS protein expression in an in vivo model organ system. H. May-Simera, D. Jagger, A. Forge, P. L. Beales.

898/C Gene expression profiles and pathway analysis of early mouse inner ear development. S. A. Sajan, M. Warchol, M. Lovett.

899/A Histone deacetylation enhances qkI transcription, an essential factor for promoting oligodendroglia differentiation. Y. Chen, C. Kitchen, M. Xia, D. Osterhout, Y. Feng.

900/B Loss of Sprouty gene function leads to dental anomalies by modulating FGF signaling. O. Klein, G. Minowada, R. Peterkova, H. Lesot, G. Balooch, J. Jernvall, G. Martin.

901/C Signature of Group II introns ORF in chick embryos? M. A. Sabry, A. Jones, G. K. Dhoot.

902/A A PEX7 Hypomorphic Mouse Model For Plasmalogen Deficiency Affecting the Lens and Skeleton. R. Zhang, L. Chen, S. Scheper, R. Chaudhury, S. Steinberg, A. Moser, N. Braverman.

903/B Tbx1, a 22q11 deletion syndrome candidate gene, is a selector for myocardial cell fate specification in the secondary heart field. J. Liao, S. Nowotschin, B. E. Morrow.

904/C Identifying the Molecular Basis of Morphological Variation in Beaks. K. Powder, S. Brugmann, J. Helms, M. Lovett.

905/A Development of TaqMan® snoRNA Assays for Endogenous Controls. L. Wong, D. Ridzon, Y. Liang, P. Sali, C. Barbacioru, R. Samaha, E. Spier, D. Ginzinger, K. Livak, K. Guegler, C. Chen.

906/B Knock-down Analysis of 100 KAO-NASHI Genes. A. Shimizu, S. Asakawa, T. Sasaki, N. Shimizu.

907/C Craniofacial And Growth Plate Abnormalities in a Mouse Model of Trichorhinophalangeal Syndrome Type I. D. Napierala, K. Sam, R. Morello, Q. Zheng, T. Bertin, R. Shivdasani, B. Lee.

Epigenetics

908/A SOX9cre1: a distal SOX9 regulator that interacts with Hh signaling factors. G. A. Bien-Willner, P. Stankiewicz, J. R. Lupski.

909/B Enhancement of SMN2 gene expression by the DNA demethylating agent 5-aza-2'-deoxycytidine. E. Hahnen, J. Hauke, B. Wirth.

910/C Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation. R. P. Nagarajan, A. R. Hogart, M. R. Martin, Y. Gwye, J. M. LaSalle.

911/A Resequencing of the 3'UTR of SLITRKs and potential targets of miRNAs in patients with obsessive-compulsive disorder. E. Saus, M. Gratacos, M. P. Alonso, J. R. Gonzalez, J. M. Menchon, C. Segalas, M. Bayes, J. Labad, J. Vallejo, X. Estivill.

912/B A rare single nucleotide polymorphism within mature miR-125a alters its biogenesis. R. Duan, C. Pak, P. Jin.

913/C Sense and antisense RNAs are transcribed from a loosened heterochromatic structure at D4Z4 in Facio-Scapulo-Humeral Muscular Dystrophy. M. Rossi, A. Cellini, E. Ricci, P. Tonali, L. Felicetti, P. Venditti.

914/A Investigation of HSA21 microRNAs expression in Down Syndrome. M. Gagnebin, C. Borel, S. Deutsch, S. E. Antonarakis.

915/B Human neocentromere formation at a large variable-copy number tandem array in 8q21. D. Hasson, A. L. Alonso, F. Cheung, J. H. Tepperberg, P. R. Papenhausen, J. J. Engelen, P. E. Warburton.

916/C No effect of folic acid and methionine on D4Z4 methylation in facioscapulohumeral muscular dystrophy. J. C. de Greef, E. L. van der Kooi, M. Wohlgemuth, R. R. Frants, R. J. G. P. van Asseldonk, H. J. Blom, B. G. M. van Engelen, S. M. van der Maarel, G. W. Padberg.

917/A Molecular and biochemical alterations in Human Intrauterine Growth Restriction. L. Guo, J. Ferreira, S. Choufani, D. Chitayat, C. Shuman, S. Keating, J. Kingdom, R. Weksberg.

918/B DNA methylation at the human IGF2 locus is highly heritable and associated with SNPs in cis. B. T. Heijmans, D. Kremer, E. Tobi, D. I. Boomsma, P. E. Slagboom.

919/C Expression analysis of microRNAs during eye development in mouse. M. Karali, V. Marigo, S. Banfi.

920/A Methylation-dependent fragment separation: direct detection of DNA-methylation by capillary electrophoresis of PCR products from bisulfite-converted genomic DNA. A. E. Karger, B. Finkelnburg, A. Rico, K. I. Moody, K. J. Livak, G. Zon, V. L. Boyd.

921/B DNA methylation analysis of the GABRB3 promoter in monozygotic twin pairs discordant for Nonsyndromic Cleft lip and/or Palate. J. W. Kimani, J. C. Murray.

922/C Epigenetic differences in monozygotic Rett syndrome twin with different severity. T. Kubota, Y. Chunshu, K. Endoh, M. Sohtome, M. Sasaki.

923/A Analysis of epigenetic abnormalities in an autistic population. M. Rosales, I. Cuscó, B. Gener, M. Del Campo, L. A. Pérez Jurado.

924/B Epigenetics of the retinoic acid paradox. S. Rossetti, M. Q. Ren, G. Bistulfi, N. Sacchi.

925/C Satellite DNA Methylation Patterns by Hairpin Genomic Sequencing. C. Shao, M. Ehrlich.

926/A Inter-individual Epigenetic Variation in Healthy Human Subjects. M. Shinawi, E. Montz, P. Fang, A. L. Beaudet.

927/B Development of High Multiplex TaqMan® MicroRNA Assays. R. Tan, C. Chen, K. Guegler.

928/C An excess of G over C in mutagenesis: evidence from human genetic diseases in support of methylation-insulation hypothesis for conserved amino acid evolution. L. Xiao, Y. F. Yin, J. Zhang, H. L. Gao, K. Li.

929/A Serotonin Transporter mRNA Levels are associated with the Methylation of an CpG Island. A. Madan, R. Philibert, A. Anderson, R. Cadoret, H. Packer, H. Sandhu.

930/B Truncation of the Kcnq1ot1 non-coding RNA uncovers dual mechanisms of imprinting for Cdkn1c. M. J. Higgins, G. V. Fitzpatrick, E. M. Pugacheva, Z. Abdullaev, V. V. Lobanenkov, J. Y. Shin.

931/C Loss of bi-allelic expression of 15q11-13 GABA-A receptor subunit genes in Rett syndrome and autism. A. Hogart, R. P. Nagarajan, D. H. Yasui, K. A. Patzel, J. M. LaSalle.

932/A Dynamic developmental changes of DNA methylation in the Snrf-Snrpn locus. T. Kishino, K. Miyazaki, C. Mapendano, N. Niikawa, T. Ohta.

933/B Identification of a novel imprinted transcription factor on human chromosome 7q32.3. L. Parker-Katiraee, T. Yamada, S. N. Abu-Amero, G. E. Moore, M. Kaneda, H. Sasaki, K. Nakabayashi, S. W. Scherer.

934/C Methyl Primer Express® Software and influence of amplicon characteristics to success rate in sequencing of bisulfite treated DNA. E. S. Vennemeyer, A. A. Pradhan, A. Rico, B. Finkelnburg, M. F. Fraga, C. Ferrero, M. Esteller.

935/A X chromosome DNA methylation: a new quantitative assay and preliminary results in women with premature ovarian failure. K. L. Bretherick, M. R. Fluker, C. J. Brown, W. P. Robinson.

936/B Population screening for fragile X syndrome and sex chromosome aneuploidies by quantification of methylated FMR1 DNA. B. Coffee, I. Albizua, M. Friez, R. Stevenson, S. T. Warren.

937/C Discovery of DNA methylation sites in MYOD1, MLH1, and RB1 in heterogeneous DNA samples with a modified quantitative sequencing method. A. Lakdawalla, V. Boyd, K. Hunkapiller, C. Brown, E. Gerber, S. Chen.

938/A Simultaneous detection of changes in copy number and CpG methylation of the differentially imprinted chromosome 11p15 BWS locus using Methylation-specific MLPA (MS-MLPA). A. O. H. Nygren, B. Baskin, R. R. T. Brekelmans, D. J. G. Mackay, J. P. Schouten.

939/B Unequal Distribution Of DNA Methylation Within A DNA Repeat Array Linked To Facioscapulohumeral Muscular Dystrophy. L. Qi, K. Jackson, M. Ehrlich.

Ethical, Legal and Social Issues in Genetics

940/C Physician Awareness of genetics (PHAGEN) among primary care physicians in Israel. G. Hirsch-Yechezkel, R. Grossman-Yahalom, Y. Shachar, E. Friedman.

941/A Making Policy for Our Children: The Advisory Committee on Heritable Disorders in Newborns and Children. R. R. Howell, M. Lloyd-Puryear.

942/B Community accessibility of family health history tools. J. O'Leary, J. Williams, M. Taualii, P. Kyler, S. Terry.

943/C Human experimental treatment: report of an ethical dilemma. V. Muñoz, M. Raymundo, T. A. Vieira, L. L. C. Pinto, A. C. M. Azevedo, A. C. S. Puga, I. V. Schwartz, L. Kalakun, R. Giugliani.

944/A Improving Regulation with Genetic Information: The Case of Particulate Matter and Asthmatics. C. Kramer, A. Cullen, E. Faustman.

945/B Genomic literacy and public attitudes toward the medical applications of genome research: a nationwide opinion survey concerning genome research in Japan. Z. Yamagata, K. Muto, I. Ishiyama, A. Nagai, A. Tamakoshi, K. Mimura.

946/C Quality of life in families: children with birth defects. B. Ballesteros, M. Novoa, I. Zarante, F. Suárez.

947/A Experience of Discrimination Among Persons who Have Undergone Predictive Testing for Huntington’s Disease. C. Erwin, E. Penziner, J. Williams, A. Wallis, Y. Bombard, M. Hayden, J. Paulsen.

948/B The National Coordinating Center (NCC) for the Genetics and Newborn Screening Regional Collaborative (RC) Groups: A national resource for enhancing services in local communities. J. Benkendorf, M. Lloyd-Puryear, M. Mann, J. Shuger, M. Watson.

949/C The Guilford Genomic Medicine Initiative (GGMI): Developing a model for personalized medicine. S. Blanton, P. Leitz, V. Henrich, J. Vance, M. Pericak-Vance, GGMI Investigators.

950/A Attitudes Regarding Genetics and Genetic Testing: A Pilot Community Survey. V. Henrich, C. Christianson, K. P. Powell, S. E. Hahn, D. Spoon, D. Bartz, S. Blanton, P. Lietz, J. Vance, M. Pericak-Vance.

951/B Japanese public attitudes toward blood donation for genomic research. K. Muto, I. Ishiyama, A. Nagai, A. Tamakoshi, M. Kokado, K. Mimura, Z. Yamagata.

952/C Evidence Based Information: lessons learned from Fragile X and Duchenne/Becker Muscular Dystrophy. M. Weaver, K. Reed, C. Greene, M. Blitzer, P. Furlong, K. Clapp, S. Terry.

953/A Exploring Managed Care Decision-Maker Perspectives on the Utility and Economics of Genetic Cancer Risk Assessment: Focus groups and an educational intervention. J. Culver, K. Blazer, H. Bichkoff, J. Weitzel.

954/B Disclosing misattributed paternity: a survey of genetic counselors in the United States and Canada. S. A. Zelenietz, C. Harrison, C. Trevors, C. Shuman, D. Chitayat, P. McKeever.

955/C A Comparison of Publicly Accessible Y Chromosome Databases for Ancestral and Population Studies. U. A. Perego, J. Ekins, N. M. Myres, K. Ritchie, R. Hughes, N. Angerhofer, S. R. Woodward.

956/A Primary Care Physicians' Knowledge of Race, Ethnicity, Human Genetic Variation and Health. V. L. Bonham, L. Cooper, D. Frank, T. Gallagher, A. Odunlami, E. Phillips, E. Price, S. Sellers.

957/B Evaluation of Five Parameters Relating to Genetics Education in the International MD Program at Universidad Autónoma de Guadalajara, School of Medicine: Are There Implications for Enhanced USA-Mexico Collaboration in Genetics Education and Research? J. S. Eperjesi, N. N. Batta, R. J. Samouh, M. A. Gutierrez-Franco, F. G. Martinez-Sandoval.

958/C Educational and Outreach Programs for Genomic Medicine in Mexico. S. March, A. Lopez, J. Bedolla, C. Davila, V. Castellanos, A. Hidalgo-Miranda, I. Silva-Zolezzi, G. Jimenez-Sanchez.

959/A More than you bargained for: Unsolicited Information in Direct to Consumer (DTC) Genetic Tests. K. A. B. Goddard, R. P. Igo, Jr., J. Fishman.

960/B Evaluating life scientists' and geneticists' perceptions and understanding of research ethics. J. McCormick, A. Boyce, R. Garg, M. Cho.

961/C Informed consent in the era of identifiable publicly released DNA data. A. L. McGuire, R. G. Gibbs.

962/A Genetic vs. environmental hypotheses of disease causation: the case of autism. H. K. Tabor, M. Mohindra, A. Boyce, M. Cho.

963/B “In the year 2020”: Representations of the Promise of Personalized Medicine. A. Adair, T. Caulfield.

964/C Burden of genetic diseases in Colombia: 1996 - 2025. J. Bernal, F. Suárez.

965/A Reproductive Genetics And Responsibility: The Patient Standpoint. C. Bouffard.

966/B Low-income Americans' understandings of the relationship of genes and behavior in producing health outcomes. C. Condit, M. Gronnvoll, J. Landau, C. Groscurth, T. Harris, L. Shen, L. Wright.

967/C Experience with the uptake of preimplantation genetic diagnosis (PGD) for the purpose of family balancing. S. L. McAdoo, R. R. Sharp, L. McCullough, S. A. Carson, P. Amato, J. E. Buster, J. A. Hamilton, F. Z. Bischoff, P. L. Cisneros, J. L. Simpson.

968/A Knowledge among university women about folic acid and its importance during pregnancy: a survey in the Pontificia Universidad Javeriana Colombia. A. Ordoñez, F. Suárez.

969/B Genetic Testing for Hearing Impairment in African Americans. D. M. Pekarek, S. K. Prucka, R. J. H. Smith, N. H. Robin.

970/C Attitudes Toward Genetic Testing and African Ancestry: how is Genetic Research Valued? E. R. Santos, C. Glover, C. Bonilla, W. Hernandez, S. E. Hooker, P. Payne, R. A. Kittles, C. Royal.

971/A The Effect of Genetic Essentialism and Exceptionalism on Law and Policy. M. W. Sharp, T. A. Caulfield.

972/B Are we providing excellent care? Development of novel quality measures for clinical genetics. A. Shealy, C. Scacheri, M. Mettler, R. Rerko, D. Clements, C. Clough, C. Eng, M. R. Natowicz.

973/C Respecting patient confidentiality and professional disclosure while avoiding potential patient harm. J. S. Wilbur, J. L. Kent, J. S. Gass, E. K. Brown, R. D. Legare.

974/A Experts' ethical concerns about a genetic screen for nicotine addiction. M. J. Dingel, B. A. Koenig.

Evolutionary and Population Genetics

975/B Allele Frequencies of CYP2C9, CYP2C19 and CYP2D6 in the Ashkenazi Jewish Population. S. A. Scott, L. Edelmann, R. Kornreich, R. J. Desnick.

976/C Polymorphisms in the integrin super gene family associated with obesity and type 2 diabetes in Japanese- American and Japanese population. T. Awaya, Y. Yokosaki, F. Higashikawa, K. Yamane, N. Kohno, A. Eboshida.

977/A Identification of a unique Alu-based polymorphic locus and its use in human population studies. D. Kass, N. Jamison, M. Mayberry, E. Tecle.

978/B Identifying Genetic variants in Urea Cycle Enzymes. S. Mitchell, M. Neill, L. Hall, M. Summar.

979/C Variation and Selection in the UCSC Genome Browser. D. Thomas, H. Trumbower, A. Kern, D. Haussler, W. J. Kent.

980/A Effects of urban migratory patterns on a contemporary regional gene pool of Quebec. C. Bherer, B. Brais, H. Vézina.

981/B Genetic structure analysis of three Hispanic populations from Costa Rica, Mexico and the Southwest United States, using Y-STRs markers and mtDNA sequence. R. Campos-Sánchez, R. Barrantes, S. Silva, M. Escamilla, A. Ontiveros, H. Nicolini, R. Mendoza, R. Muñoz, H. Raventós.

982/C The African genetic contribution to the Brazilian genetic pool. C. M. B. Carvalho, V. F. Gonçalves, H. J. Bandelt, S. P. Bydlowski, M. C. Bortolini, S. D. J. Pena.

983/A East Asian-specific natural selection at the leukocyte immunoglobulin-like receptor A3 (LILRA3) locus. K. Hirayasu, J. Ohashi, H. Tanaka, K. Kashiwase, M. Takanashi, M. Satake, K. Tokunaga, T. Yabe.

984/B Paternal History of Linguistically diverse East African Populations. J. Hirbo, S. Omar, M. Ibrahim, S. Tishkoff.

985/C Formalization of matching strategies for duplicated Y chromosome STR loci. L. A. D. Hutchison, N. M. Myres, K. Ritchie, R. Hughes, N. Angferhofer, J. Ekins, B. A. Berger, S. R. Woodward.

986/A Population genetic data set of hundreds of thousands of SNPs free of ascertainment bias. A. Keinan, J. C. Mullikin, N. Patterson, D. Reich.

987/B The genetic variation and population history in the Baltic Sea region. P. Lahermo, V. Laitinen, S. Koivumäki, P. Sistonen, P. Anderson, M.-L. Savontaus, K. Huoponen, T. Lappalainen.

988/C Allele frequency estimates from DNA pools for 317,000 SNPs for multiple European and worldwide populations and discovery of Ancestry Informative Markers for Europe. J. Li, D. Absher, A. Southwick, M. D. Shriver, M. Bauchet, P. A. Underhill, L. L. Cavalli-Sforza, G. Barsh, R. M. Myers.

989/A Effects of microsatellite marker choice on measures of human interpopulation genetic relatedness and inferred phylogenies. J. Listman, R. T. Malison, B. Z. Yang, A. Sughondhabirom, N. Thavichachart, H. R. Kranzler, S. Tangwonchai, A. Mutirangura, T. Disotell, J. Gelernter.

990/B Y Chromosome and Mitochondrial DNA Analysis of First Settlers of the Chesapeake Bay's Hoopers Islands to Investigate the Presence of Native American Lineages. H. McCammon, U. A. Perego, J. Ekins, K. Ritchie, N. Myres, R. Hughes, N. Angerhofer, I. Masannat, S. R. Woodward.

991/C Patterns of sequence variation in the human pigmentation candidate gene SLC24A5. H. Norton, M. Hammer.

992/A High Density SNP Analysis of Ashkenazi Jews. K. Offit, A. Olshen, B. Gold, J. Struewing, J. Satagopan, E. Eskin, T. Kirchhoff, J. A. Lautenberger, S. Stefanov, D. Goldgar, E. Friedman, L. Norton, N. Ellis, A. Viale, P. Borgen, K. Lohmueller, A. Clark, J. Boyd.

993/B The Founder Contribution to the Old Order Amish of Lancaster County. T. I. Pollin, R. Agarwala, A. A. Schäffer, A. R. Shuldiner, B. D. Mitchell, J. R. O'Connell.

994/C Cluster analysis of extended Y-STR haplotypes leads to discovery of a large and widespread subclade of Y Haplogroup J2. B. E. Schrack, T. W. Athey, J. F. Wilson.

995/A Did phenylketonuria (PKU) arise after the Out-of-Africa migration? C. R. Scriver, P. Hardelid, M. Cortina-Borja, A. Munro, H. Jones, Y. Foo, M. Cleary, M. Champion, C. Dezateux.

996/B Analysis of nine autosomic STR loci on recent human phylogenies of southeast of Brazil. R. Silva, A. Debes-Bravo, L. Morganti, S. Bydlowski, R. Moura-Neto.

997/C Mapping recombination hotspots in the three Indian consanguineous communities. M. S. Song, H. S. Savithri, X. M. Lu, X. Li, B. S. Gong, H. S. Venkatesha Murthy, A. H. Bittles, N. Appaji Rao, W. Wang.

998/A A likelihood approach to defining homozygous tracts using high-density SNP genotypes. J. P. Struewing, R. J. Clifford, L. H. M. Pereira, M. A. Pineda, C. E. Fasola, H. Zhang, R. P. Finney, J. Zhang, K. H. Buetow.

999/B Comparative analysis of Copy Number Variation polymorphisms between Mexican Mestizos and European population. L. Uribe-Figueroa, A. Hidalgo-Miranda, I. Silva-Zolezzi, J. Estrada-Gil, M. Arrieta, A. Contreras, G. Jimenez-Sanchez.

1000/C Detecting genomic regions subject to natural selection by examining deviations of genealogies from neutral models. Y. Wang, B. Rannala.

1001/A The Effects of Recombination and Mutation on Patterns of Variation surrounding the b-globin HbS allele. E. Wood, D. Stover, M. Nachman, M. Hammer.

1002/B Inference of polyphyletic SNP-ratio by zero-distance limit of fraction of SNP paris in complete linkage disequilibrium. R. Yamada, K. Hirosawa, A. Yoshizumi, V. Renault, M. Yamaguchi, F. Matsuda.

1003/C LRRK2 G2019S in Families with Parkinson's Disease Originating from Europe and the Middle East: Evidence for Two Distinct Founding Events Beginning Two Millennia Ago. C. P. Zabetian, C. M. Hutter, D. Yearout, A. N. Lopez, S. A. Factor, A. Griffith, B. C. Leis, T. D. Bird, J. G. Nutt, D. S. Higgins, J. W. Roberts, D. M. Kay, K. L. Edwards, A. Samii, H. Payami.

1004/A Intracontinental Distribution of Haplotype Variation: Implications for Human Demographic History. M. C. Campbell, S. A. Tishkoff, C. D. Bustamante, J. H. Lee, A. Carracedo, E. J. Parra, R. DeSalle, R. L. Holloway.

1005/B Allelic Frequencies of Polymorphisms Associated with Type 2 Diabetes in Mexican Population. L. del Bosque-Plata, A. Inchaustegui, K. Carrillo-Sanchez, G. Jimenez-Sanchez.

1006/C Association Mapping in Model Organisms under the Effect of Population Structure. H. M. Kang, N. A. Zaitlen, C. Kadie, C. M. Wade, A. W. Kirby, M. J. Daly, D. Heckerman, E. Eskin.

1007/A Unprogrammed presentation number

1008/B Recessive alleles and Longevity among Kurichians: a tribal population of Kerala, India. P. K. R. Thavanati, K. R. R. Kanala, A. Escoto de Dios, P. R. Alaharai, M. G. Lopez Cardona, N. O. Davalos Rodriguez, J. M. Cantu Garza.

1009/C A novel chimeric gene formed by exon-shuffling and retrotransposition in the hominoid lineage. D. V. Babushok, K. Ohshima, X. Chen, Y. Wang, E. M. Ostertag, N. Okada, C. S. Abrams, H. H. Kazazian.

1010/A The Role of A-Tail Heterogeneity in Alu Retroposition Efficiency. M. S. Comeaux, P. Deininger.

1011/B Different evolutionary fates of recently integrated human and chimpanzee LINE-1 retrotransposons. K. Han, J. Lee, R. Cordaux, J. Wang, D. J. Hedges, P. Liang, M. A. Batzer.

1012/C Identification and characterization of novel polymorphic LINE-1 insertions through comparison of two human genome sequence assemblies. M. K. Konkel, J. Wang, P. Liang, M. A. Batzer.

1013/A Geographic Distribution of Polymorphisms in Folate Metabolism Genes in Mexico. L. A. Alfaro, I. Silva-Zolezzi, A. Contreras, R. Goya, G. Jimenez-Sanchez.

1014/B Systemic assessment of MMP2 gene and the risk for endometriosis and adenomyosis. R. S. Wu, H. Y. Hsieh, M. T. Wu, M. C. Huang, E. M. Tsai, S. H. Juo.

1015/C Application of array-CGH method to the study on the genetic effects of atomic bomb radiation: Copy number variants detected in the pilot study. N. Takahashi, K. Sasaki, M. Kodaira, Y. Satoh, Y. Kodama, H. Omine, Y. Shimoichi, K. Sugita, H. Katayama, N. Tsuyama.

1016/A Reconstruction of the ancestral allele of the 8p23 inversion polymorphism. E. Slaten, P. N. Rao, R. A. Ophoff.

1017/B Evolution of the Y chromosome AZFc region in the great ape lineage. P. Yen, Y.-H. Yu, Y.-W. Lin, W. Schempp.

1018/C Multi-species conserved sequences within a chromosome 1q43 region linked to Multiple Sclerosis have reduced SNP density and polymorphism. D. P. Mortlock, J. L. McCauley, S. J. Kenealy, E. H. Margulies, N. Schnetz-Boutaud, S. G. Gregory, S. L. Hauser, J. R. Oksenberg, L. F. Barcellos, M. A. Pericak-Vance, J. L. Haines.

1019/A Gene Diversity at hypervariable polymorphic loci in African populations and its impact on estimating admixture components in admixed African populations of the American continent. H. Lee, W. Niu, R. Chakraborty.

1020/B Genetic contribution and characteristics of founders of Irish origin in the population of Quebec (Canada). M. Letendre, L. Houde, H. Vézina, M. Tremblay.

1021/C Utility of genetic markers used in human identification to detect genetic structure of global populations. W. Niu, H. S. Lee, R. Chakraborty.

1022/A Gene Conversion in Palindromic Regions of the Y Chromosome. A. Turner, U. Perego, N. Myres, R. Hughes, J. Ekins, K. Ritchie, I. Masannat, N. Angerhofer, S. Woodward.

1023/B Y Chromosome and Mitochondrial DNA Analysis of a Large Dataset from Mali, Africa. S. R. Woodward, U. A. Perego, J. E. Gomez, J. Ekins, A. Nelson, M. Nelson, J. Jensen, M. Lunt, T. Tolley, K. Ritchie, I. Masannat, S. Masek, M. Purnell, R. Hughes, N. Angerhofer, N. M. Myres.

1024/C Differential effects of DRB1*0301 and DQA1*0501-DQB1*0201 on the activation and progression of islet cell autoimmunity. E. Eller, P. Vardi, K. K. McFann, S. R. Babu, L. Yu, G. S. Eisenbarth, P. R. Fain.

1025/A Combining case-control association and allele frequency differentiation to detect malaria resistance genes. G. Ayodo, A. Ajwang, A. Keinan, A. Price, M. F. Otieno, N. Patterson, A. S. S. Orago, D. Reich.

1026/B Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes: a novel method applied to the analysis of the Portuguese population. A. Carvalho, P. Maciel, F. Rodrigues.

1027/C Heterogeneity of genetic structure of Hispanic Populations of Continental United States and its impact on understanding their complex disease risks. B. M. Chakraborty, R. Chakraborty.

1028/A Haplotype analysis of the angiotensinogen (AGT) gene in 62 worldwide populations. R. R. Ferrucci, A. Pace, S. W. Watkins, T. Nakajima, L. B. Jorde.

1029/B Widely distributed non-coding selection in the human genome. S. Asthana, W. S. Noble, G. Kryukov, S. Sunyaev, J. A. Stamatoyannopoulos.

1030/C Strong selection pressures have acted in the evolution of forkhead gene family members. C. D. Fetterman, B. Rannala, M. Walter.

1031/A A putatively expressed, imprinted and functional mouse pseudogene proposed to regulate its source gene and cause neonatally lethal disease is actually an inactive relic. T. A. Gray, R. D. Nicholls.

1032/B Haplotype association with common and high CGG repeats at the FMR1 gene in Thai subjects. P. Limprasert, J. Thanakitgosate, T. Sripo.

1033/C ENCODE Multiple Species Sequencing Data elucidate the early history of Mammals and allow the detection of evolutionary characteristics in Hominoid lineage. S. Nikolaev, J. Montoya-Borgos, E. H. Margulies, J. Rougemont, B. Nyffeler, S. E. Antonarakis, NISC Comparative Sequencing Program.

1034/A Molecular evolution of the acyl-CoA dehydrogenase (ACAD) family. Z. Swigonova, J. Vockley.

1035/B Evolution of interaction in disease-related, zinc-finger proteins: stabilization to regulation in WT1, ZIC, and GLI proteins. G. J. Wyckoff, A. K. Solidar, A. Bergen, J. H. Laity.

1036/C Gathering evidence for an adaptive evolution of skin pigmentation in humans. S. Alonso-Alegre, I. Smith-Zubiaga, N. P. Smit, D. Boyano, J. L. Díaz-Pérez, I. Garcia, N. Izagirre, C. de la Rua.

1037/A A multimarker method to localize signals of differential selection by analyzing SNP frequency differences between two populations. M. J. Barber, H. J. Cordell, J. A. Todd.

1038/B Emergence of new primate genes by retrotransposon-mediated sequence transduction. M. A. Batzer, J. Xing, H. Wang, V. P. Belancio, R. Cordaux, P. L. Deininger.

1039/C Human-specific differences in the rates of peroxisomal lipid metabolism relative to the great apes. J. Hacia, A. Moser, K. Ramaswamy, M. Karaman, O. Ryder, P. Watkins.

1040/A Investigating the origins of the BRCA1 mutation c.5385dupC. N. Hamel, L. Foretova, S. A. Narod, L. Tihomirova, V. Zajac, S. Ciernikova, S. Armaou, D. Yannoukakos, C. Greenwood, W. D. Foulkes.

1041/B Parallel Selection on TRPV6 in Human Populations via Soft Sweeps. D. A. Hughes, K. Tang, R. Strotmann, T. Schöneberg, B. Nilius, M. A. Stoneking.

1042/C Insertion/Deletion Polymorphisms in Rajasthan Tribal Populations and Rajputs. S. Kamboj, R. Dada, S. Bhardwaj, K. Kucheria.

1043/A Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. H. Kehrer-Sawatzki, V. Goidts, D. N. Cooper, L. Armengol, W. Schempp, J. Conroy, X. Estivill, N. Nowak, H. Hameister.

1044/B A practical method of genome screening for population-specific selective sweeps: candidate regions contributing to inter-population phenotypic divergences. R. Kimura, A. Fujimoto, K. Tokunaga, J. Ohashi.

1045/C Detecting signals of selection on standing variation. S. Kudaravalli, X. Wen, J. K. Pritchard.

1046/A Allelic Variability and Tests for Natural Selection at the Human ALDH2 Locus. J. Long, C. Lewis, J. Li, R. Malhi, K. Hunley.

1047/B Asian Nomads traces in the mitochondrial gene pool of Slavs. B. A. Malyarchuk, T. Vanecek, M. A. Perkova, M. V. Derenko, M. Sip.

1048/C Molecular characterization of lactase gene regulation in African populations. A. Ranciaro, F. A. Reed, J. Hirbo, K. Powell, M. Osman, S. Omar, M. Ibrahim, S. A. Tishkoff.

1049/A Elevated level of common nonsynonymous variations in human EMR1 gene is consistent with balancing selection. J. Tan, M. L. Hibberd, R. Ong, E. Png, M. Seielstad.

1050/B Mitochondrial DNA Lineages in the Yukaghir, Chukchi and Siberian Eskimos, and Resettlement of Arctic Siberia after the Last Glacial Maximum (LGM). N. V. Volodko, R. I. Sukernik, E. B. Starikovskaya, M. A. Lvova, D. C. Wallace.

1051/C Signatures of recent natural selection in drug-metabolism genes. M. Yeager-Jeffery, F. Hyland, K. Lazaruk, K. Haque, R. A. Welch, F. M. De La Vega.

1052/A Geography-dependent difference in allele frequencies of immune-related loci presumably under malarial selection pressure in Vanuatu. M. Yasunami, M. Kikuchi, N. Okuda, T. Tsukahara, C. Sato, M. Matsuo, R. Ubalee, K. J. Lum, A. Kaneko, K. Hirayama.

1053/B New evidence on the molecular evolution of the ADH gene cluster in primates. H. Oota, R. Kaul, K. Hui, W. C. Speed, A. J. Pakstis, J. R. Kidd, M. Olson, K. K. Kidd.

1054/C Analysis of ancestral origins of three populations using structure. C. A. Brandon, T. Goldstein McHenry, M. E. Cooper, B. S. Maher, K. M. Bardi, J. R. Avila, J. C. Murray, A. R. Vieira, M. L. Marazita.

1055/A Mining the genome diversity of microsatellite markers: genetic signature of population expansion in modern humans. S. Guha, R. Chakraborty.

1056/B Initial Analysis of Linkage Disequilibrium in the Mexican Mestizo Population. A. Hidalgo-Miranda, I. Silva-Zolezzi, J. Estrada, E. Barrientos, S. March, L. del Bosque-Plata, O. Perez-Gonzalez, E. Balam-Ortiz, A. Contreras, A. Inchaustegui, C. Davila, L. Orozco, G. Jimenez-Sanchez.

1057/C Use of Forensic Markers in the Assessment of Population Stratification. C. Oddoux, S. Shajahan, D. Parrott, L. U. A. Pearlman, H. Ostrer.

1058/A Haplotype variation and linkage disequilibrium within 36 genomic regions in two Indian language groups. P. I. Patel, T. J. Pemberton, J. D. Wall, J. K. Pritchard, N. A. Rosenberg.

1059/B Mitochondrial DNA polymorphisms in the Amerindian: Tarahumara, Huichol, and Purépecha, and in one Mestizo Mexican population. L. Sadoval-Ramírez, M. T. Magaña-Torres, M. Casas-Castañeda, J. M. Oliva-Ortiz, G. Vaca, F. Rivas, J. M. Cantú.

1060/C Assessing Exclusionary Power of a Paternity Test Involving a Pair of Alleged Grandparents. D. Einum, R. Staub, M. Scarpetta.

1061/A Genetic differences across Finland using genome-wide SNP data. C. J. Willer, L. J. Scott, H. M. Stringham, T. T. Valle, N. A. Rosenberg, R. N. Bergman, K. L. Mohlke, J. Tuomilehto, F. S. Collins, M. Boehnke.

1062/B Detection and characterization of insertion-deletion polymorphisms in normal human populations. D. A. Wheeler, S. I. Yakub, Y. Ding, D. M. Muzny, R. A. Gibbs.

1063/C Performance of putatively functional variant assays in drug metabolism genes across multiple control populations using the Applied Biosystems TaqMan® DME panel. R. Welch, K. Haque, T. Harkins, F. Hyland, K. Lazaruk, F. M. De La Vega, M. Yeager.

1064/A Whole genome scanning for inversion polymorphisms based on population substructural patterns. L. Deng, J. Kang, T. Liu, Y. Zhang, Q. Wang, H. Yang, C. Zeng, BGI HapMap Group.

1065/B Evaluation of Ancestry and Linkage Disequilibrium Sharing in Admixed Population in Mexico. J. K. Estrada, A. Hidalgo-Miranda, I. Silva-Zolezzi, G. Jimenez-Sanchez.

1066/C Genetic and Cellular Factors Influencing the Frequency of Nonallelic Recombination Among Interspersed Repetitive Elements. D. J. Hedges, P. L. Deininger.

1067/A Determination of parental origin of de novo mutations that were detected in the past protein studies of atomic bomb survivors' children. Y. Satoh, E. Nishikori, N. Takahashi.

1068/B Estimating the age of four common CFTR mutations in Brittany (western France). Y. Fichou, E. Génin, C. Le Maréchal, V. Scotet, C. Férec.

1069/C Migraine Linkage Mapping using the Norfolk Island Genetic Isolate. L. R. Griffiths, C. Bellis, R. M. Hughes, K. N. Begley, S. Quinlan, R. A. Lea, S. C. Heath, J. Blangero.

1070/A Sequence-level population simulations over large genomic regions, with gene conversion, recombination hotspots and selection. D. Balding, J. Whittaker, M. De Iorio, C. Hoggart, T. Clark.

1071/B Rare missense polymorphisms: the good, the bad and the ugly. G. V. Kryukov, S. R. Sunyaev.

1072/C Locus specific mutation databases for human genetics: catalogue and survey of curators. C. Talbot, R. G. H. Cotton AM, O. Horaitis, M. Phommarinh, K. Phillips, Consortium to collect mutations.

1073/A A strong signature of balancing selection on Succinate Dehydrogenase Subunit A gene (SDHA) in the African-American population. B. E. Baysal, E. C. Lawrence, R. E. Ferrell.

1074/B Sequence divergence between Mus Spretus and Mus Musculus across a 13Mb region on chromosome 12. A. E. Toland, K. L. Cooper, A. Dworkin, N. P. Gladman, H.-Y. Cho, J.-H. Mao, A. Balmain.

1075/C The study of DNA hypervariability detected by DNA of phage M13 with the purposes of ecological monitoring. S. N. Petrova, E. V. Shabrova, S. N. Ardashova, S. A. Limborska, E. K. Khusnutdinova.

Gene Structure and Function

1076/A FXR1P modulates FMRP affinity for G-quartets structure, increasing the dynamics of FMRP/FXR1P/RNA complex. B. Bardoni, E. Bechara, L. Davidovic, M. Melko, M. Bensaid, E. W. Khandjian, E. Lalli.

1077/B Identification of RNAs interacting with N-Terminal Domain of FMRP (NDF). B. He, W. Ju, W. T. Brown, N. Zhong.

1078/C In vivo promotor analysis of bioluminescent MC4R transgenic mice. R. Kesterson, C. Lamar, W. Wang, K. Zinn.

1079/A Activity-dependent PP2A dephosphorylation of FMRP suggests a novel, dynamic and immediate phase of translational regulation in neurons. U. Narayanan, M. Nakamoto, D. Pallas, S. T. Warren.

1080/B Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family--Leber's hereditary optic neuropathy in a Chinese family. J. Qu, X. Zhou, Y. Tong, L. Yang, F. Zhao, C. Lu, F. Lu, M. X. Guan.

1081/C Expression pattern of Lgi1 gene in mouse brain during development suggests a possible function. P. A. O. Ribeiro, L. Sbragia, R. Gilioli, F. Cendes, I. Lopes-Cendes.

1082/A The role of NF-kB in TNFa-regulated transcription of the human COMT in astrocytes. I. Tchivileva, R. Sitcheran, A. S. Baldwin, W. Maixner, L. Diatchenko.

1083/B Characterization of expressed anti-parallel transcription units in male germ cells. W.-Y. Chan, S. M. Wu, L. Hovrath, L. Ruszczyk, E. Mikhaylova, O. M. Rennert.

1084/C Large scale DNase I hypersensitivity mapping of the human CFTR gene region. M. O. Dorschner, J. Goldy, M. Weaver, A. Shafer, K. Lee, F. Neri, A. Haydock, P. Sabo, R. Humbert, M. S. Kuehn, J. A. Stamatoyannopoulos.

1085/A Regulation of RUNX2 at the nuclear lamina. P. Fonseca, G. Zhou, P. Hermanns, E. Munivez, Q. P. Zheng, B. Lee.

1086/B Regulation of a sense/antisense transcript within TAF1/DYT3 that contains a sequence change (C>T) exclusively found in patients with X-linked dystonia-parkinsonism. U. Müller, T. Herzfeld, J. A. Kress, D. Nolte.

1087/C Splicing analysis cassette vector system showed that either a polypyrimidine-tract or an exonic splicing enhancer is essential for correct splicing of dystrphin exon19. Y. Habara, M. Doshita, Y. Yokono, M. Yagi, Y. Takeshima, M. Matsuo.

1088/A SNP Regulation of LDLR Splicing Efficiency. I. F. Ling, H. M. Tucker, S. Estus.

1089/B Study of the untranslated region of CFTR (ABCC7) by 5'-RACE in the human tissue. X. Pepermans, V. Janssens, A. Bosmans, N. Bletard, C. Sempoux, C. Verellen-Dumoulin, P. Lebecque, K. Dahan.

1090/C Identification of cis sequence effects on gene transcription using multiple methods. A. Bergen, A. Baccarelli, T. McDaniel, K. Kuhn, E. Chudin, P. Bender, R. Pfeiffer, D. Garcia-Rossi, K. Jacobs, B. Packer, S. J. Chanock, M. Yeager.

1091/A Cytoplasmic FANCC is not Required for a Normal Response to Interstrand Crosslink Damage. A. Hemphill, L. Lucas, M. Al-Dhalimy, Y. Akkari, S. Olson, R. Moses.

1092/B Knockdown of frataxin causes loss of aconitase activity, induction of oxidative stress and induction of heme transcripts. C. Lu, G. C. Cortopassi.

1093/C Molecular Studies on DYX1C1 a candidate gene for dyslexia. I. Tapia-Paez, S. Massinen, J. Kere.

1094/A Maturation process of SUMO1 and SUMO4 in different cell lines. W. Z. Wei, Y. Wang, C. Y. Wang.

1095/B The quantification of the allelic variations of gene expression in peptidylarginine deiminase type 4 (PADI4). A. Suzuki, Y. Kochi, K. Kobayashi, K. Hayashi, R. Yamada, K. Yamamoto.

1096/C Mutations in the leucine zipper domain of ORF1p adversely affect L1 reverse transcription. A. E. Hulme, D. A. Kulpa, J. N. Athanikar, J. V. Moran.

1097/A Differential Alu retrotransposition in HeLa cells. H. C. Kopera, J. L. Garcia-Perez, J. V. Moran.

1098/B Down-regulation of the Dopamine Receptor D2 (Drd2) in mice lacking Ataxin 1. A. Matilla-Dueñas, A. Hunt, M. Hubank, J. Holton, T. Revesz, A. Pastore, R. Goold.

1099/C Limited instability of fragile X full mutation alleles. S. L. Nolin, X. Ding, G. E. Houck, W. T. Brown, C. Dobkin.

1100/A Investigations of the effect of CTCF on the promoters of the anti-apoptotic Bcl-2 gene. A. Molouki, E. Klenova, H. Najmabadi.

1101/B Molecular analysis of a novel FLN1 gene mutation. S. S. Tsuneda, F. R. Torres, M. A. Montenegro, M. Guerreiro, F. Cendes, I. Lopes-Cendes.

1102/C Screening for mutations in NEMO in a large cohort of Incontinentia Pigmenti patients. M. V. Ursini, F. Fusco, G. Fimiani, A. Pescatore, G. Napolitano, M. G. Miano, M. D'Urso.

1103/A Nucleocytoplasmic shuttling defects in heterotaxy. J. E. J. Bedard, S. M. Ware.

1104/B hnRNP E1 transcriptional and translational regulation profiles. N. Zhong, L. R. Huo, J. H. Zou, M. Yan, D. Wu, W. Ju.

1105/C Restricted DNA Copy Number Variation in CNS Versus Lymphocyte Derived DNA. R. A. Holt, G. Turecki, G. M. Wilson.

1106/A E-Selectin Ligand 1 Negatively Regulates TGFb in the Golgi during Skeletogenesis. T. Yang, R. Mendoza-Londono, H. Lu, K. Li, B. Keller, M. Jiang, Y. Chen, T. K. Bertin, B. Dabovic, D. B. Rifkin, J. Hicks, A. L. Beaudet, B. Lee.

1107/B Detection of genomic copy number variations (CNV) using the SNPlex™ genotyping system. M. Wenz, F. de la Vega, R. Koehler, A. Tobler, T. Hemming Karlsen, A. Franke, S. Schreiber, J. Hampe.

1108/C A-Richness and the Repression of L1 Protein Expression. N. Wallace, P. Deininger.

1109/A Genetic characterization of a family with asymptomatic high serum gamma-glutamyltransferase (GGT) concentration. A. De Grandi, B. Taibi, F. Marroni, I. Pichler, S. Pedrotti, C. Beu Volpato, P. P. Pramstaller.

1110/B A genomewide scan for variation in the polyadenylation signal and correlation to expression levels. L. R. L. Davies, C. J. Cotsapas, R. R. Graham, D. Altshuler.

1111/C A member of the immunoglobulin superfamily, CD96 contributes to cell adhesion and growth. T. Kaname, K. Yanagi, H. Maehara, F. Kanaya, Y. Kubota, Y. Oike, K. Naritomi.

1112/A Hyaluronan synthetase 2 is a target gene of human SIM2 transcription factor. Y. Shimizu, A. Yamaki, S. Asai, A. Ueno, J. Kudoh, N. Shimizu.

1113/B Molecular pathogenic studies of Hutchinson-Gilford progeria syndrome. Y. H. Li, W. Ju, W. T. Brown, N. Zhong.

1114/C Identification of genes involved in tooth development by differential microarray gene expression. F. Li, T. J. Pemberton, G. A. Mendoza, Y. Hsu, M. L. Snead, R. Mehrian-Shai, P. I. Patel.

1115/A Characterization of the Mus musculus Tcof1 minimal promoter. K. Shows, R. Shiang.

1116/B A novel mutation in the RAB27A gene causing Griscelli Syndrome. M. Tuchman, R. Kleta, M. Gunay-Aygun, M. Huizing, W. Westbroek, A. Helip-Wooley, J. M. Hertz, W. A. Gahl.

1117/C The IKBL protein inhibits activation of gene expression by NF kappa B. A. K. Mankan, J. Daly, E. Caraher, D. Kelleher, R. McManus.

1118/A Generation and characterization of Elovl4 Y270X knockin mouse. Z. Tong, D. Gibbs, S. Kamaya, H. Chen, Z. Yang, C. Wang, D. J. Cameron, Y. Chen, A. Praggastis, E. Pearson, K. Howes, K. Zhang.

1119/B Functional and genetic analysis of hnRNPA1 as modifier gene in spinal muscular atrophy (SMA) discordant siblings. A. Vielle-Canonge, I. Bagni, L. Vallo, L. Alias, E. Also, E. Tizzano, M. Bertoli, G. Novelli, P. Spitalieri, E. Bonifazi, A. Botta.

1120/C Interacting proteins of Autoimmune Regulator (AIRE). M. C. Rosatelli, D. Corda, E. Fiorillo, A. Cao, A. Meloni.

1121/A Protein walking of hnRNP E1 with a yeast “n-hybrid” system. L. R. Huo, W. Ju, N. Zhong.

1122/B Clinical features and molecular analysis of eight LHON Chinese families carrying the ND6 T14484C mutation. X. Zhou, J. Qu, Y. Sun, F. Zhao, L. Yang, Y. Tong, Q. Wei, R. Li, Y. Qian, F. Lu, M. X. Guan.

1123/C A Bardet-Biedl syndrome type 1 (BBS1) M390R mouse model results in ventriculomegaly, leptin resistance and a defect in regulation of neuronal cilia synthesis. R. E. Davis, K. Agassandian, K. Rahmouni, R. F. Mullins, A. R. Philp, C. C. Searby, D. Y. Nishimura, M. P. Andrews, M. Tayeh, M. D. Cassell, B. Yang, E. M. Stone, V. C. Sheffield.

Genetic Counseling and Clinical Testing

1124/A Molecular Investigation SCA in 28 patients suspected to SCA in Iran. S. Saber, M. Rostami, M. M. Banoei, S. H. Nafisi, M. Houshmand.

1125/B Multiple Sclerosis North American Pregnancy Program (MS-NAPP). A. Sadovnick, E. Dwosh, C. Guimond.

1126/C Phenylketonuria (PKU) disease knowledge and health locus of control. M. Applegarth, V. Vandergon, M. Fox, N. Dorrani, S. Charnofsky, C. Palmer.

1127/A Toward the development of an adolescent-focused framework for genetic counseling. M. L. Galvin, C. Shuman, R. Babul-Hirji, D. Chitayat, M. J. Esplen, M. Kaufman.

1128/B Investigation of Subjective Social Status in orofacial cleft Case families versus Controls. K. M. Bardi, M. E. Cooper, D. E. Polk, C. A. Brandon, M. L. Marazita.

1129/C Barriers and Motivators to Family-Based Screening for Hereditary Hemochromatosis (HH). D. K. Wagener, K. Bandel, M. Reyes, D. Dunet, M. Trisolini.

1130/A Midwives and genetics in Australia: current practice, anticipated needs. S. A. Metcalfe, M. Bishop, Y. Bylstra, C. Gaff.

1131/B CNS Tumors, Melanosis and More: a Lesson in the Value of Research and Longitudinal Genetic Counseling. K. Zbuk, A. Shealy, C. Eng.

1132/C Rare case of vertical transmission of transposition of the great arteries. C. Rigelsky, C. Eng.

1133/A Dystrophin gene's hotspots in Iranian patients suspected to DMD or BMD. M. Dehghan Manshadi, T. Majidizadeh, M. Shafa, S. M. Seyed Hassani, M. Houshmand.

1134/B Prenatal diagnosis of a rare European Cystic Fibrosis (CF) mutation in a fetus of Jewish descent. R. Shtoyerman, A. Kaftori, Z. Appelman.

1135/C Family history and electronic medical records in primary care. W. Feero, E. Piekarz, D. Meyer.

1136/A Genetic conversations — a bridge toward delivery of genetic services in medical subspecialties. M. Cloutier, C. Shuman, R. Weksberg, D. Chitayat, F. Miller.

1137/B Preconceptional or prenatal Fragile X screening. Experience of 14 years in a Belgian Center for Human Genetics. P. Hilbert, S. Boulanger, L. Van Maldergem, Y. Gillerot, Ch. Verellen-Dumoulin.

1138/C Newborn screening for cystic fibrosis in the Czech Republic: results from a pilot study. A. Holubova, F. Votava, V. Skalicka, V. Vavrova, D. Zemkova, P. Kracmar, M. Libik, J. Camajova, T. Piskackova, M. Macek.

1139/A Counseling Implications in Familial 3q29 Microdeletion Syndrome. S. Jamal, X. L. Huang, H. F. L. Mark, J. M. Milunsky.

1140/B Extending Mendelian Mutation Prediction Models to Account for Medical Interventions: application to Incorporating Oophorectomy into BRCAPRO. H. A. Katki.

1141/C The accuracy of family history questionnaires as a genetic counseling tool in a familial cancer setting. J. M. McCuaig, S. Randall Armel, A. Finch, R. Demsky, B. Rosen.

1142/A Family Functioning, Age, and Coping Mechanisms in Smith-Magenis Syndrome (SMS). R. S. Morse, R. A. Bernert, W. Introne, A. C. M. Smith.

1143/B Experiences of genetic counseling in eight families with Vietnamese wives in Taiwan. H.-P. Pan, S. J. Lin, M. C. Huang.

1144/C Genetic and reproductive knowledge among adolescents and adults with cystic fibrosis. N. H. Robin, G. H. Houser, H. Gutierez, J. P. Clancy, K. R. Young, C. Holt.

1145/A Clinical diagnostic testing for autosomal recessive polycystic kidney disease. J. Dong, M. A. Chen, S. Nolet, M. P. Herbst, S. Yao, Y. Su, R. Sayer, L. Guay-Woodford, L. M. Messiaen.

1146/B Rapid implementation of MLPA using synthetic probes increases the mutation detection rate in DNA diagnostics. L. H. Hoefsloot, M. H. A. Ruiterkamp-Versteeg, G. M. G. Schobers, K. P. van der Donk, I. J. de Wijs, W. M. Nillesen, H. Scheffer, E. A. Sistermans.

1147/C Beta Evaluation of the NanoChip 400 CFTR assay for Cystic Fibrosis carrier detection in a tertiary care hospital. N. I. Lindeman, P. Flatley, D. Hall, P. Jarolim, J. A. Longtine.

1148/A Physician Survey on Asthma Genotyping. I.-W. Yu, T. Stith, A. Ferreira-Gonzalez, L. B. Schwartz, A.-M. Irani, B. L. Bukaveckas.

1149/B Assessing Genetic Literacy in Undergraduate Students. E. E. Acra, C. A. Huether, B. V. Bowling, H. Bender.

1150/C Development and Use of a Genetic Literacy Concept Inventory for Undergraduates. B. V. Bowling, C. A. Huether, E. E. Acra.

1151/A An interactive web-based genetics case for medical students. J. Cowan, S. Albright, D. Walker, L. Demmer.

1152/B Online Interdisciplinary Healthcare Training: A Model for Genetic Education. S. DeLany Dixon, S. Ashley, K. Gordes, L. Doucette.

1153/C A descriptive study of international genetic counselor education: program features and student characteristics. S. M. Gilinsky, R. Medh, F. Field, S. Charnofsky, J. G. Edwards.

1154/A Genetic Tools: an online resource to help primary care faculty integrate genetics into primary care training. A. M. Laberge, K. Fryer-Edwards, S. B. Trinidad, W. Burke.

1155/B Analysis of Inquiries to a Federal Public Education and Health Care Professional Resource on Genetic and Rare Diseases. J. Lewis, D. Lea, H. Hyatt-Knorr.

1156/C Analysis of Transcriptomes: a Genomics Multimedia Module. M. I. Roche, D. J. Lofland.

1157/A Developing genetic competency in undergraduate nursing students through the context of disease and the constructivist framework. L. Tribble.

1158/B Aneuploidy risk evaluation according to the degree of analyte deviation in combined I. trimester screening. M. Macek, M. Simandlova, S. Vilimova, R. Vlk, H. Cuckle, I. Spalova, A. Lashkevich, B. Cardova, M. Turnovec, J. Diblik, M. Havlovicova, M. Macek, Jr.

1159/C Simple F-ratio test reveals Gene-Gene Interactions in Case-Control Studies. G. Chen, A. Yuan, J. Zhou, A. Adeyemo, C. Rotimi.

1160/A Simultaneous detection of common alpha-thalassemia point mutations and deletions by reverse-hybridization. C. Oberkanins, H. Najmabadi, H.-Y. Law, W. Krugluger, E. Baysal, V. Viprakasit, S. Pissard, A. Taher, A. Al-Ali, H. Puehringer.

1161/B Improved Beta-thalassemia genotyping by means of reverse-hybridization teststrips tailored to population-specific mutations. H. Puehringer, H. Najmabadi, W. Krugluger, H.-Y. Law, V. Viprakasit, C. Oberkanins.

1162/C Development of verified quality control materials from the Coriell Cell Repositories fulfills needs of genetic testing community. T. Sellers, D. L. Coppock, L. Kalman.

1163/A Development of Clinical Molecular Genetics Testing for Primary Ciliary Dyskinesia. M. A. Zariwala, M. Langley, M. W. Leigh, J. Booker, M. R. Knowles, K. Weck.

1164/B A novel method for rapid carrier screening of Fragile X syndrome. D. Huang, Y. Li, J. Rooke, S. Potts, W. Sun, M. McGinniss, C. Strom.

1165/C Sequence analysis of small SMN1 mutations in SMA compound heterozygotes. D. C. Mihal, S. J. Bridgeman, R. E. Pyatt, T. W. Prior.

1166/A Comprehensive analysis for large deletions in TSC1 and TSC2 in TSC patients: frequency, utility and reliability of MLPA, and genotype-phenotype correlations. P. Kozlowski, P. S. Roberts, S. Dabora, D. Franz, J. Bissler, H. Northrup, K.-S. Au, S. Jozwiak, D. J. Kwiatkowski.

1167/B RET proto-oncogene genotyping using unlabeled probes, the masking technique and amplicon high-resolution melting analysis. R. L. Margraf, R. Mao, W. E. Highsmith, L. M. Holtegaard, C. T. Wittwer.

Genomics

1168/C High-throughput genotyping of International HapMap Project Populations with Applied Biosystems TaqMan® Drug Metabolism Genotyping Assays: an automated laboratory and analysis pipeline. K. A. Haque, K. D. Lazaruk, J. S. Ziegle, L. M. Wronka, M. B. Beerman, R. A. Welch.

1169/A Frequency of variants in 184 genes involved with metabolism and transport using a novel analytical platform. R. Hockett, T. Daly, P. Hardenbol, X. Miao, C. Bruckner, R. Njau, N. Bauer, C. Dumaual, R. Haman, N. Lewin-Koh, S. Kirkwood.

1170/B Development of High Throughput Genotyping Assays for Pharmacogenomics using Multiple Technology Platforms. M. S. Phillips, I. Mongrain, N. Gaudreault, A. M. K. Brown, Y. Renaud, P. Guelpa, A. Mallah, C. Beck, T. Van Rooij.

1171/C Proteomic analysis of the purkinje cell degeneration mouse yields evidence for a bioenergetics basis for the neurodegeneration. L. Chakrabarti, S. Ryu, B. Gallis, S. Schaffer, D. Goodlett, A. La Spada.

1172/A Analysis of SMS1 mRNA expression in focal cerebral ischemia in rats after treatment with neuropeptide Semax and its C-terminal Pro-Gly-Pro tripeptide. V. G. Dmitrieva, E. V. Torshina, O. V. Povarova, L. V. Dergunova, S. A. Limborska, V. I. Skvortsova.

1173/B Identification of prosencephalon-specific enhancer of SALL1: comparative genomic approach using chick embryonic system. K. Izumi, M. Aramaki, M. Uchikawa, H. Kondoh, Y. Naito, R. Kosaki, T. Takahashi, K. Kosaki.

1174/C Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome. N. Kibiryeva, D. C. Bittel, R. A. White, D. J. Driscoll, M. G. Butler.

1175/A Broad Institute Genetic Analysis Platform Utilizing Illumina BeadLab Technology. S. Gupta, J. Moore, A. Camargo, M. Hagar, N. Beattie, Y. Hoshida, M. Nizzari, T. R. Golub, S. B. Gabriel.

1176/B Copy Number Variation Analysis on the HapMap DNA Samples Using TaqMan® Assays for CYP2D6, CYP2E1, CYP2A6, GSTM1 and GSTT1. K. Li, K. A. Haque, R. A. Welch, K. Lazaruk.

1177/C DigiTag2 assay for multiplex SNP typing. N. Nishida, T. Tanabe, M. Takasu, A. Suyama, K. Tokunaga.

1178/A A simplified medium-throughput 48-plex SNP genotyping method. L. Pawlikowska, C. Chu, Z. Jiang, P.-Y. Kwok.

1179/B Evaluating HapMap data transferability in a Shanghai Chinese population. C. Hu, W. Zhang, C. Wang, R. Zhang, Q. Fang, J. Lu, X. Ma, W. Jia, International Type 2 Diabetes 1q Consortium.

1180/C 2DE-DIGE proteomic analysis in mesial temporal lobe epilepsy. M. J. Murai, R. Horiuchi, D. Martins, C. V. Maurer-Morelli, J. C. Novello, F. Cendes, I. Lopes-Cendes.

1181/A Biotin changes multiple proteins expression in S. cerevisiae grown under fermentative and aerobic conditions. A. Velázquez-Arellano, V. Pérez-Vázquez, A. Hernández-Mendoza, M. Hernández, G. Martínez-Batallar, S. Encarnación, S. Uribe, D. Ortega-Cuéllar.

1182/B High-resolution genomic profiling with Infinium™ Whole Genome Genotyping BeadChips. D. A. Peiffer, T. Jenniges, F. Garcia, E. Chudin, K. Haden, E. Allen, F. Steemers, J. Le, D. Barker, R. Shen, K. L. Gunderson.

1183/C Quantitative analysis using decreasing amounts of genomic DNA to assess the performance of the Agilent oligo comparative genome hybridization microarray system. S. Song, D. Ilsley.

1184/A Identification of regulatory regions nearby COL18A1 gene. E. Kague, L. Armelin-Correa, O. T. Suzuki, M. C. Sogayar, M. R. Passos-Bueno.

1185/B Chromosome map reveals stage-specific gene signatures and identifies genetic hotspots during murine embryonic gonad development. T. L. Lee, D. Alba, V. Baxendale, O. M. Rennert, W. Y. Chan.

1186/C How mutations at the 3' end region of exons cause aberrant splicings? - In silico and in vitro analyses to answer the question -. K. Sahashi, J. Shinmi, G. Sobue, K. Ohno.

1187/A A Genomic Approach to Neurofibromin Function. A. Pemov, L. Messiaen, D. Stewart.

1188/B Regulation of endogenous L1 expression by splicing and polyadenylation. V. P. Belancio, P. L. Deininger.

1189/C Initial Unbiased Identification of Genes for Exceptional Longevity in Humans. G. Atzmon, K. Ye, N. Barzilai.

1190/A The OpenArray Platform: enabling high-throughput SNP genotyping applications in nanoliter volumes. S. Liu-Cordero, K. D. Munnelly, J. Garcia, K. Yoder, J. Cho, A. Katz, T. Kanigan, T. Morrison, C. Brenan, D. G. W. Roberts.

1191/B X-linked and autosomal gene expression in human tissues: male and female comparisons. Z. Talebizadeh, S. D. Simon, M. G. Butler.

1192/C 100 Robust Dosage PCR (RD-PCR) assays: easy to develop and highly accurate dosage assays can robustly detect germline deletion mosaicism at a level of 1.4 copies per genome. V. Q. Nguyen, J. Han, C. H. Buzin, C. Kasper, S. S. Sommer.

1193/A Development of upQMPSF and mutation-specific multiplex PCR for detecting large germline genomic rearrangements. S. Azrak, L. Li, W. D. Foulkes, P. Liang.

1194/B Use of challenging sample types on oligo aCGH microarrays. F. Cifuentes, M. Nair, C. Rizzo, R. Taylor.

1195/C Identification of Novel Deletions of 15q11q13 in Angelman Syndrome by Array-Based Comparative Genomic Hybridization (CGH): Large Segmental Duplicons Flank the Breakpoints. S. Peters, T. Sahoo, J. R. German, C. A. Shaw, L. M. Bird, V. Kimonis, A. L. Beaudet, C. A. Bacino.

1196/A High-throughput genotyping for detecting structural genomic variation in healthy African Americans. S. W. Scholz, M. Matarin, H. C. Fung, J. Simon-Sanchez, D. Hernandez, A. Britton, J. R. Gibbs, A. Singleton, A. B. Zonderman, M. K. Evans.

1197/B The difference of crossover pattern between male and female. H. Xi, Z. Jiang, R. Deka.

1198/C Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumor formation. M. Shahid, V. S. Dhillion, M. Raish, A. Ahmad, N. J. Khan, Rahimunnisha, S. A. Husain.

1199/A Genotype-calling algorithm for high-throughput chip-based TaqMan SNP assays. B. Q. Doan, B. Carvalho, S. N. Liu-Cordero, B. Bishe, A. Fink, A. Chakravarti, R. Irizarry, D. E. Arking.

1200/B The ciliary proteome database: An integrated community resource for the genetic and functional dissection of cilia. E. E. Davis, A. Gherman, N. Katsanis.

1201/C PhenCode: Connecting Genome and Phenotype. B. Giardine, W. J. Kent, R. C. Hardison, PhenCode Consortium.

1202/A FFIGdb - A Fast, Flexible, Integrated Genotype Database for storing very large genotype and phenotype data sets. W. Rayner, E. Zeggini, M. I. McCarthy, and the International Type 2 Diabetes 1q Consortium.

1203/B Gene Expression Profiling in CD4+CD25+high T cells from a recent-onset Type 1 Diabetic subject reveals reduced expression of HLA genes. P. Jailwala, S. Glisic-Milosavljevic, J. Waukau, S. Jana, J. Rovensky, L. Meyer, M. Hessner, S. Ghosh, V. Magnuson.

1204/C The HR-Amp™: A closed-tube mutation scanning and genotyping platform for genetic analysis. D. A. David, C. T. Wittwer, J. T. Mckinney, S. F. Dobrowolski, V. E. Dujols, L. M. Nay, R. J. Pryor, D. D. Hawks, S. K. Marland.

1205/A DNA array profiling of genes involved in differentiation of stem cell to spinal cord precursor cell in mouse. H. Jeong, J. I. Ahn, H. J. Jeong.

1206/B Assessing copy number variation in individuals with autism spectrum disorder using Affymetrix 500K SNP arrays. C. R. Marshall, L. Feuk, L. He, T. Miller, J. Skaug, P. Szatmari, L. Zwaigenbaum, B. Fernandez, W. Roberts, S. W. Scherer.

1207/C Copy number variation of immune genes. S. J. White, E. van den Akker, E. van de Vosse, A. W. de Visser, J. T. den Dunnen, M. H. Breuning.

1208/A Mutations of a novel tight junction protein are associated with DFNB49 nonsyndromic hearing loss. S. Riazuddin, Z. M. Ahmed, A. S. Fanning, K. Ramzan, A. Lagziel, R. S. Shaikh, P. Chattaraj, P. L. Friedman, J. M. Anderson, I. A. Belyantseva, A. Forge, S. Riazuddin, T. B. Friedman.

1209/B Molecular profiling of idiopathic hirsutism for markers of androgenic metabolism and insulin endothelial regulating genes. D. Minella, F. Amati, M. Biancolella, G. Grassi, F. Gullotta, A. M. Nardone, P. Spitalieri, A. Farcomeni, S. Bueno, G. Chillemi, D. Lauro, A. Desideri, C. Moretti, G. Novelli.

1210/C Insights from Three ChIP-on-chip Platforms. D. O. Ricke, S. Wang, D. Cohen.

1211/A Gene Expression Differences between Patients and Controls in Type 1 Diabetes weakly correlates with Gene Divergence Rate. A. Solidar, K. Kover, S. Svojanovsky, W. V. Moore, G. J. Wyckoff.

1212/B Nonsense-medicated mRNA decay is not a major contributor to downregulate the Alu-containing splicing variants. K. Inoue, K. Takano, Y. Goto.

1213/C Characterization of the ubiquitin hydrolase activity of mouse ataxin-3 and of its subcellular localization in skeletal muscle. M. C. Costa, A.-J. Rodrigues, P. Maciel.

1214/A Identifying transcriptional targets in cancer. K. Johanson, A. Sidhu, A. Hollenbach.

1215/B Prevalence of somatic alterations in sporadic prostate cancer genomes. N. Makridakis, T. Phipps, J. Reichardt.

1216/C A human fetal cartilage-specific gene expression profile. V. Funari, A. Day, D. Krakow, Z. Cohn, S. Nelson, D. Cohn.

1217/A Tissue Specific Expression Of Type X Collagen In Hypertrophic Chondrocytes Is Specified By A 150 BP Col10a1 Distal Promoter Element. Q. Zheng, B. Keller, G. Zhou, D. Napierala, Y. Chen, A. Parker, B. Lee.

1218/B Single Gene Transcriptome Analysis of Combinatorially Spliced Calcium Channels. X. Zhong, M. C. Emerick, D. A. Hanck, W. S. Agnew.

1219/C Data Quality Assessment of STR Fragment Analysis on the 3730xl DNA Analyzer. M. Vogel, D. V. Walker, D. D. Einum, C. L. Mouritsen.

1220/A DNA pooling for whole genome association studies on the Illumina Infinium Assay arrays. A. E. Baum, N. Akula, I. Cardona, W. Corona, A. Singleton, J. Hardy, S. Detera-Wadleigh, F. J. McMahon.

1221/B Capillary array SSCP analysis of pooled DNA for association testings. K. Hayashi, K. Masumoto, Y. Okazaki, A. Yoshinaga, K. Higasa, Y. Kukita, T. Tahira.

1222/C Genome-Wide Association (GWA) Studies: performance experience with the Illumina® HumanHap300 Genotyping Beadchips in a high-throughput setting. K. Hetrick, C. Bark, E. Kwasnik, J. Gearhart, J. Romm, M. Zilka, C. Ongaco, A. Robinson, J. Goldstein, R. King, L. Watkins, M. Barnhart, B. Craig, M. Boehnke, E. Pugh, K. Doheny.

1223/A Genotyping by Whole Genome Hybridization. K. W. Jones, P.-H. Wang, J. Yang, J. Huang, G. Fu.

1224/B Genome-wide association study of acute post-surgical pain in humans. H. Kim, H. Lee, J. Brahim, J. Rowan, S. Wahl, R. A. Dionne.

1225/C Whole-genome association in Alzheimer disease using high-density SNP genotyping microarrays: a comparison of the Affymetrix DM and BRLMM genotype-calling algorithms. D. H. Lince, K. L. Ohlsen, X. Wang, K. J. Elliot, M. Ryder, L. Bertram, R. E. Tanzi, K. D. Becker.

1226/A A new test for hardy-weinberg disequilibrium using genotypes. A. Murphy, C. Lange, S. Weiss.

1227/B Impact of Long Term Storage and Purification of Whole Genome Amplified DNA on High Throughput Genotyping Technologies. R. Tewhey, C. Guiducci, A. Rachupka, L. Gianniny, L. Ziaugra, S. Gabriel, L. Groop, N. P. Burtt, D. Altshuler.

1228/C Performance and data quality comparison for two genome wide association products: Illumina Sentrix® Human-1 Genotyping Beadchip and Affymetrix GeneChip® Human Mapping 100K Set using AREDS study samples. Y.-Y. Tsai, C. Bark, K. Hetrick, H. Hobbs, J. Strand, E. Kwasnik, M. Barnhart, J. Gearhart, H. Chin, P. Dudley, K. Doheny, E. Pugh.

1229/A High-density QTL mapping for loci influencing gene expression patterns in entire biochemical pathways. M. A. Zapala, J. Wessel, N. J. Schork.

1230/B A Robust, Scaleable Solution for High Throughput Data Production Using Affymetrix 500K SNP Arrays. B. Blumenstiel, M. DeFelice, M. Parkin, W. Winslow, C. Healy, D. Mirel, P. Lin, B. Handsaker, M. Nizzari, P. DeBakker, M. Daly, D. Altshuler, S. Gabriel.

1231/C Follow up genome-wide SNP assay reveals additional structural variation and confirms extended homozygosity and cell-line induced alterations in normal individuals. A. F. Britton, J. Simon-Sanchez, S. Scholz, H.-C. Fung, M. del Mar Matarin, D. Hernandez, J. R. Gibbs, F. Wavrant de Vrieze, E. Peckham, K. Gwinn-Hardy, A. Crawley, J. C. Keen, J. Nash, D. Borgaonkar, J. Hardy, A. Singleton.

1232/A Performance of Whole Genome Amplified DNA on the Affymetrix GeneChip® Human Mapping 500K Array Set. C. Guiducci, R. Tewhey, B. Blumensteil, M. DeFelice, I. Pe'er, P. deBakker, S. Gabriel, L. Groop, N. P. Burtt, D. Altshuler.

1233/B Direct isolation of short sequence length polymorphisms in 3' flanking sequences of Alu repeats for microarray analysis. J. J. Jonsson, H. G. Thormar, B. Gudmundsson, G. H. Gunnarsson, M. H. Halldorsson, Y. Vigfusson, H. Thorgeirsson.

1234/C High-density oligonucleotide array-based genotyping using whole genome amplified DNA. M. Kibriya, F. Jasmine, I. Andrulis, E. John, J. Chang-Claude, H. Ahsan.

1235/A An accurate and robust high density SNP genotyping microarray platform. K. Kuhn, P. C. Ng, S. S. Murray, L. Zhou, L. Galver, C. Tsan, D. Bullis, P. Merrit, F. Steemers, K. Gunderson, R. Shen.

1236/B Detection of copy number changes in patients with mental retardation using high density SNP microarrays. J. Wagenstaller, S. Spranger, B. Heye, B. Kazmierczak, M. Cohen, P. Freisinger, T. Meitinger, M. Speicher, T. M. Strom.

1237/C Novel Unbiased Cloning Vectors, Methods, and Applications. R. Godiska, N. Ravin, S. Vande Zande, V. Gilbert, D. Mead, C. Wu.

1238/A Target DNA Production for Chip Resequencing. D. T. Okou, M. E. Zwick.

1239/B Large-scale sequence variation detection in diploid samples using Affymetrix arrays. A. B. Sparks, N. Patil, F. Collin, S. Walsh.

1240/C Universal Detector for Single Sample SNP Genotyping. A. Broomer, D. Merrill, R. Koehler, C. Chen.

1241/A Repeated Analysis of Limited Amount of DNA/RNA Samples Using an Irreversible Binding Matrix. C. Brown, V. Boyd, E. Gerber, K. Hunkapiller, S. Chen, A. Lakdawalla.

1242/B An Inexpensive Bead-Based Oligonucleotide Ligation Assay for SNP Genotyping. S. E. Bruse, N. McGregor, M. A. Azaro, B. Xu, L. M. Brzustowicz.

1243/C Use of HapMap Data and TagZilla to Design Large Scale Multiplex Assays for Candidate Gene And Gene Pathway Analyses. L. Burdett, K. Jacobs, R. Welch, M. Beerman, B. Staats, L. Qi, T. Li, Z. Wang, S. Chanock, M. Yeager.

1244/A A simple and robust method for estimating allele frequencies in pooled DNA samples. H.-H. Chen, Y. S. Jou, W. H. Pan.

1245/B Discovery of low abundance sequence variants in mitochondrial heteroplasmy with a Quantitative Sequencing method. S. Chen, A. Lakdawalla, K. Hunkapiller, C. Brown, E. Gerber, K. Livak.

1246/C A high-throughput method for direct sequencing from bacterial cultures. T. Ganguly, P. Chen, R. Teetsel, L. Zhang.

1247/A Comparison between BAC and oligo array platforms in detecting submicroscopic genomic rearrangements. P. Hixson, E. Laritsky, X. Wang, T. Jiang, S. Cheung, I. Van Den Veyver, W. Cai.

1248/B Concordance Measurements and Genotyping Error Rate in the HapMap Dataset. J. Huang, J. Yang, K. Hao, S. Cawley, K. W. Jones.

1249/C Detection of large deletions and duplications in genomic DNA using a semi-quantitative multiplex PCR-based assay on capillary electrophoresis systems. S. Karudapuram, S. Jankowski, M. Barrois, A. Miniere, A. Rico.

1250/A Binding prediction and probe design for non-continuous probes used for molecular haplotying, genotyping and multiplex-genotyping. G. Pont-Kingdon, R. L. Margraf, A. Phansalkar, A. Millson, K. Damjanovich, E. Lyon.

1251/B Multiplex Genotyping by Small Amplicon Melting and Unlabeled Probes: application to HFE Genotyping. R. J. Pryor, C. T. Wittwer.

1252/C A rapid and sensitive method for RNA integrity determination on capillary electrophoresis systems. A. B. Shah, S. Karudapuram, L. K. Joe, M. Rhodes, Y. Lou, J. Keefe, J. Briggs, M. Wenz, C. Waldron, C. Carver, S. Bass.

1253/A Genome-wide detection of human copy number variations using high density DNA oligonucleotide arrays. M. H. Shapero, F. Shen, W. Chen, V. Truong, K. R. Fitch, D. Komura, S. Ishikawa, J. Zhang, G. Liu, H. Aburatani, K. W. Jones, J. Huang.

1254/B Universal detector assay for measuring DNA copy number changes. A. R. Tobler, A. J. Broomer, R. T. Koehler, D. C. Merrill, K. J. Guegler, C. Chen.

1255/C Single Cell Whole Genome Amplification Method. D. Vassar-Nieto, C. Brown, C. Brueck, E. Mueller.

1256/A Copy number analysis and allele quantitation by 60,000 plex Molecular Inversion Probes (MIPs) on GeneChip® arrays using 75ng genomic DNA. Y. K. Wang, M. Moorhead, S. Lin, C. Chen, T. D. Willis, G. Karlin-Neumann, M. Faham.

1257/B Synergistic effects of nucleotide content on SNP formation. E. Arehart, N. Barney, W. Holden, J. Hwa, J. H. Moore.

1258/C Genome assembly comparison to identify structural variation in the human genome. L. Feuk, R. Khaja, J. Zhang, J. R. MacDonald, Y. He, A. M. Joseph-George, J. Wei, M. A. Rafiq, L. Armengol, X. Estivill, C. Lee, S. W. Scherer.

1259/A Large Scale Association Study Genotype Data at the National Center for Biotechnology Information. S. T. Sherry, M. Feolo, L. Phan, M. Mailman, M. Ward, A. Vinokurov, M. Kholodov, D. Hoffman, R. Dunivin, A. Kitts, A. Graef, J. Ostell.

1260/B New Communities Added to the International HapMap Project Resource: analysis of Microsatellite Frequencies. L. H. Toji, C. M. Beiswanger, B. A. Frederick, D. L. Coppock.

1261/C Proteomic Analysis of Retinoic Acid-induced Clubfoot-like Deformity in Rat Fetuses. W.-N. Fu, K. L. Sun, Z. G. Li, H. Ji, H. T. Zhou, S. J. Ji, Y. Y. Zhao, C. L. Jin.

1262/A Confirmation of PREDICTED and generation of novel sequences for the calcitonin (CALCR) and vitamin D3 (VDR) receptors in Bos taurus. M. J. Paolella, K. M. Bilides, M. L. Fitzmaurice, C. E. Horbal, S. M. Lombardi, K. E. Mannion, V. L. Martucci, R. A. Nunez, J. E. Pachesa, B. K. Reidy.

1263/B Combined effect of several common SNPs on plasma level of HDL-cholesterol. S. Sunyaev, V. Spirin, S. Schmidt, J. Cohen.

1264/C The CIDR GWA LIMS — A Laboratory Process Tracking System for the Illumina® HumanHap300 and Human-1(100K) BeadChip Products. M. Barnhart, J. Goldstein, B. Craig, C. Bark, R. King, K. Hetrick, K. F. Doheny, L. Watkins.

1265/A Mouse models: using mutant phenotypes to investigate human disease. S. M. Bello, D. L. Burkart, M. A. Cassell, L. L. Washburn, B. Richards-Smith, A. Anagnostopoulos, R. Babiuk, H. Onda, M. Tomczuk, I. Lu, H. Dene, C. Smith, J. T. Eppig.

1266/B Splicing Sequences Finder: a bioinformatics resource to identify sequences involved in splicing. C. Beroud, D. Hamroun, S. Tuffery-Giraud, O. Leroy, G. Collod-Beroud, M. Claustres.

1267/C The development of an open platform LIMS solution to address the complexity of genomics and systems biology workflows, data management, and analysis. D. Bronnikov.

1268/A Informatics for next-generation DNA sequencing using single molecule clusters and sequencing-by-synthesis (SBS). C. Brown, A. Cox, L. Davies, C. Goddard, N. Spiridou, K. Maisinger, M. Parkinson, D. Bentley.

1269/B The HUGO Gene Nomenclature Committee. E. A. Bruford, M. W. Wright, K. M. B. Sneddon, T. P. Sneddon, M. J. Lush, V. K. Khodiyar, R. C. Lovering, C. C. Talbot , Jr., S. Povey.

1270/C Development of a Coordinated Approach to Experimental Design and Analysis. K. P. Clancy, M. Duan, J. Yen, F. Liang.

1271/A Collection of human genome variation: The Human Variome Project? R. Cotton.

1272/B Gene copy number variation and the limits of detection using Affymetrix GeneChip® Human Mapping 100K and 500K arrays. A. D. Delaney, R. A. Holt, H. Li, T. Nayar, A. Baross, A. Ally, J. Asano, D. Bailey, P. Birch, M. Brown-John, M. Cao, S. Chan, P. Eydoux, N. Fernandes, S. Flibotte, A. Go, G. Kennedy, S. Langlois, J. M. Friedman, M. A. Marra.

1273/C A Direct Long SAGE Tag-to-Gene Mapping Scheme. A. E. Dellinger, T. Wang, C. B. Rickman, M. A. Hauser.

1274/A EURExpress, a web-based transcriptome atlas of the developing mouse embryo. G. Diez-Roux, EURExpress Consortium.

1275/B High-throughput gene expression analysis of skin from psoriatic patients and normal controls. J. Ding, J. E. Gudjonsson, R. P. Nair, P. E. Stuart, D. Ghosh, J. J. Voorhees, G. R. Abecasis, J. T. Elder.

1276/C Bayesian Networks for Modeling SNP Markers. H. Dong, L. Jin, M. Xiong.

1277/A GeneSniffer, A Gene Prioritization Tool: New Developments and Application to Type 2 Diabetes Genetics. K. Elliott, W. Rayner, E. Zeggini, S. Wiltshire, J. T. Bell, M. McCarthy, International Type 2 Diabetes Chromosome 1q Consortium.

1278/B Amyotrophic lateral sclerosis (ALS) and superoxide dismutase (SOD1) mutations: an intronic perspective. R. M. Game, J. Lynes, N. J. Schisler.

1279/C High resolution detection of copy number changes and LOH using the Affymetrix GeneChip® 500K Mapping Array on formalin-fixed, paraffin-embedded tumor tissue. S. Jacobs, E. R. Thompson, Y. Nannya, Y. Go, R. Pillai, S. Ogawa, D. K. Bailey, I. G. Campbell.

1280/A Browsing Associations. W. J. Kent, D. Haussler, UCSC Genome Bioinformatics Group.

1281/B In silico analysis of histone deacetylases. S. Khuri, G. Dimicco, L. J. Elsas.

1282/C Expansion of ALFRED, the ALlele FREquency Database. K. K. Kidd, H. Rajeevan, K.-H. Cheung, R. Gadagkar, S. Stein, U. Soundararajan, J. R. Kidd, A. J. Pakstis, P. L. Miller.

1283/A Evaluation of Sequencing Analysis Software for Complex Disease Studies. C.-Y. Liu.

1284/B PseudoFinder: a genome-wide pseudogene finding method. Y. T. Lu, D. Haussler.

1285/C Managing gene-specific information at NCBI. D. R. Maglott.

1286/A Characterizing Intronic Sequences by Chromosomal Location: valleys in the Genomic Terrain. C. M. Malcom, G. J. Wyckoff.

1287/B The NCBI RefSeq Project: maintaining annotated genomes. K. Pruitt.

1288/C The Mouse Genome Informatics Database (MGI): biological data mining in the 21st century. B. A. Richards-Smith, J. A. Blake, C. J. Bult, J. Kadin, M. Ringwald, J. T. Eppig.

1289/A Mutalyzer: a tool to improve descriptions of DNA sequence changes in mutation databases and in literature. P. E. M. Taschner, M. Wildeman, E. van Ophuizen, J. T. den Dunnen.

1290/B Genome-wide In Silico Prediction of USF1 Binding Sites and Target Genes. T. Wang, J. J. Connelly, S. G. Gregory, E. R. Hauser.

1291/C An automated method for extracting normalized mentions of human genes and proteins in biomedical text. P. S. White, K. Murphy, R. O'Hara, M. D'arcy, S. Carroll, Y. Jin, H.-R. Fang, J. Kim, M. Mandel, M. Liberman, R. McDonald, F. Pereira.

1292/A Origin of complex human mutations. J. Zhang, L. D. Liu, Y. F. Yin, H. L. Gao, L. Xiao, K. Li.

1293/B Sample size estimation under fixed statistical power and FDR (false discovery rate) control in microarray experiments using a nonparametric test. J. G. Zhang, J. F. Liu, H. W. Deng.

1294/C Energy Balance Analysis of Metabolic Networks. Q. Zhou, L. Jin, M. Xiong.

1295/A Examining the Multiple Dye-Swap Design for Efficient and Effective Microarray Studies. T. K. Kim.

1296/B Inferring TGF-B pathway using time series data. X. Yang, P. Yan, X. Sun, L. Jin, M. Xiong, X. Zhou, D. Lu.

1297/C Using next generation technology for human genome sequencing and SNP discovery. D. Bentley.

1298/A The medical sequencing pipeline at the Washington University GSC. Y. Kasai, L. Ding, E. Mardis, R. Wilson, GSC Medical Sequencing Team.

1299/B The effect of heating rate on DNA duplex melting: implications for mutation scanning and real-time PCR. O. Elenitoba-Johnson, R. M. Watson, C. T. Wittwer.

1300/C High throughput targeting induced mutations using Applied Biosystems' 3730 series capillary electrophoresis system. L. Joe, B. Finkelnburg, D. Baker, L. MacPherson, J. Clarke.

1301/A Prioritizing disease genes through a protein map of yeast mitochondria. F. Perocchi.

1302/B A rapid and flexible multiplexed SNP based procedure to screen for DNA variation in the mitochondrial genome. W. Tang, J. Petros, K.-H. Huang, M. Wilson, M. Benton, M. Bouzyk.

1303/C Texas Institute for Genomic Medicine (TIGM): Knocking out all murine genes in embryonic stem cells. R. Finnell, D. Markesich, G. Hansen, C. Friddle, A. Abuin.

1304/A The Jackson Laboratory Repository: new mouse models of human disease. S. Rockwood, D. Bergstrom, B. Chang, L. R. Donahue, K. R. Johnson, C. M. Lutz, M. Sasner, M. T. Davisson, The Repository Team.

1305/B Absence of ataxin-3 causes transcriptomic deregulation of the ubiquitin-proteasome pathway, signal transduction, transcription regulation, and cell-structure/motility genes in C. elegans. A.-J. Rodrigues, G. Coppola, C. Santos, M. C. Costa, M. Aillion, J. Sequeiros, D. Geschwind, P. Maciel.

1306/C Genotyping of factor VIII by TTGE (Temporal Temperature Gradient Gel Electrophoresis) and I-PCR (Inverse-Polymerase Chain Reaction) followed by sequencing in a family segregated with severe hemophilia A. S.-P. Chang, M. Chen, D. J. Lee, M. C. Shen.

1307/A High-resolution Melting Curve Analysis: a laboratory tool capable of more than mutation detection only. J. T. Den Dunnen, R. H. A. M. Vossen, G. J. B. van Ommen.

1308/B Direct sequencing quality control: a novel software approach to reducing researcher labor. K. Hunkapiller, E. Vennemeyer.

1309/C Evaluation and introduction of new techniques in the genetic testing service by EuroGentest. N. van der Stoep, G. Matthijs, M. Macek, E. Bakker.

1310/A Extensive in silico analysis of pathogenic NF1 splicing defects identified by RNA-based mutation analysis uncovers predictors for splicing outcome of 5' splice-site disruption. K. Wimmer, X. Roca, H. Beiglboeck, T. Callens, R. R. Atmakuri, J. Etzler, C. Fonatsch, L. Messiaen.

Metabolic Disorders

1311/B Gitelman syndrome and sclerochoroidal calcifications: the critical importance of renal regulation in calcium homeostasis. K. O'Brien, E. Tsilou, M. Lynch, C. Stuart, A. Jeong, R. Kleta, W. A. Gahl.

1312/C Isolated renal transplantation in an adult with cobalamin-responsive methylmalonic acidemia. A. Gropman, K. O'Brien, J. Sloan, C. P. Venditti.

1313/A Maternal uniparental disomy of the telomeric end of chromosome 16 is responsible for a malonic aciduria. S. Malvagia, L. Papi, A. Morrone, M. A. Donati, F. Ciani, E. Pasquini, H. R. Scholte, M. Genuardi, E. Zammarchi.

1314/B Dilated Cardiomyopathy In Propionic Acidemia Patients. S. R. Romano, V. V. Valayannopoulos, F. L. Lacaille, D. B. Bonnet, D. R. Rabier, A. R. Rotig, A. M. Munnich, G. T. Touati, P. de Lonlay.

1315/C Impairment of the Hypothalamus-Pituitary-Thyroid axis in Patients with Glycogen Storage Disease type I (GSD1): increased prevalence of thyroid autoimmunity and hypothyroidism in GSD1b but not in GSD1a. G. Andria, G. Parenti, R. Pivonello, M. Sibilio, F. Balivo, R. Della Casa, R. Taurisano, M. Salerno, G. Lombardi, G. Sebastio, A. Colao, D. Melis.

1316/A Anti-inflammation treatment by Indomethacin extended the life span of the Krabbe disease variant saposin A deficient mice. S. Barnes, Y. Sun, G. Grabowski.

1317/B A prospective study of neurological manifestations and other comorbidities in adult Type 1 Gaucher disease. M. Beck, L. Marodi, M. Biegstraaten, I. N. van Schaik, C. Niederau, D. Hughes, P. Giraldo, C. E. M. Hollack.

1318/C A link between hyperammonemia, potassium and water homeostasis and interastrocyte signaling. U. Lichter-Konecki, J. M. Mangin, V. Gallo.

1319/A Correlation between inflammatory cytokines genes polymorphisms and Mainz Severity Score Index (MSSI) in patients with Fabry disease. R. Safyan, C. Whybra, D. Elstein, G. Chicco, M. Beck, G. Altarescu.

1320/B Gaucher Disease: Novel Null and Hypomorphic Alleles in Chitotriosidase, a Diagnostic and Therapeutic Marker. M. E. Grace, M. Balwani, R. J. Desnick.

1321/C Comparative analysis of serum proteomes for the discovery of biomarkers in Wilson disease. S. H. Heo, G.-H. Kim, S.-W. Park, H.-W. Yoo.

1322/A Mass Spectrometric Identification of Proteins in Patients with Platelet Storage Pool Deficiencies. D. M. Maynard, H. F. G. Heijnen, M. K. Horne, J. G. White, H. D. Edwards, L. C. Riney, A. Helip-Wooley, W. A. Gahl.

1323/B Expanded newborn screening using tandem mass spectroscopy in Mississippi in 2005. C. A. Friedrich, T. Carey, P. Hoggatt, B. Polk, D. Freer, H.-G. O. Bock.

1324/C An exonic point mutation in SBCAD is very frequent in the Hmong ethnic group and causes exon 10 skipping by simultaneous ESE disruption and ESS strengthening. B. S. Andresen, P. Madsen, V. C. Dung, N. T. Liem, N. T. Hoan, D. Hougaard, T. J. Corydon, R. J. A. Wanders, J. P. N. Ruiter, A. Kar, J. Y. Wu, L. Schroeder, N. Gregersen.

1325/A PRODH sequence variants in 22q11 deletion syndrome (22q11DS). A. S. Willis, J. A. S. Vorstman, M. De Sain-van der Velden, B. Dorland, B. S. Emanuel, D. Valle.

1326/B IL-6 promoter polymorphisms and quantitative traits related to the metabolic syndrome in KORA S4. T. Illig, H. Grallert, C. Huth, M. Kolz, C. Meisinger, C. Herder, K. Strassburger, G. Giani, H.-E. Wichmann, J. Adamski, W. Rathmann.

1327/C Paternal uniparental disomy (UPD) of chromosome 1 results in both Gaucher disease type 3 and hereditary sensory motor neuropathy. K. S. Hruska, W. S. Benko, M. J. Eblan, O. Goker-Alpan, P. S. Hart, R. Schiffmann, E. Sidransky.

1328/A Morphological abnormalities of the mitochondrial network in fibroblasts of patients affected with autosomal dominant and recessive optic neuropathies. N. Kadhom, S. Gerber, F. Barbet, A. Munnich, J. Kaplan, J. M. Rozet.

1329/B Complex management of a patient with a contiguous Xp11.4 gene deletion involving the ornithine transcarbamylase gene. M. Deardorff, P. Kaplan, J. Ganesh, C. Ficicioglu, R. Deberardinis, M. Yudkoff, T. Markello, B. Loechelt, U. Lichter-Konecki.

1330/C Early Markers of Disease Severity in Female Patients in the Fabry Outcome Survey. P. B. Deegan, D. A. Hughes, F. A. Baehner, M.-A. Barba-Romero, M. Beck on behalf of the European FOS Investigators.

1331/A The Hunter Outcome Survey (HOS): a registry of mucopolysaccharidosis II (MPS II) patients. R. Martin, M. Beck, E. Wraith, R. Giugliani, J. Clarke, J. Muenzer.

1332/B Neonatal hypertrophic cardiomyopathy (HCM) due to mitochondrial SCO2 deficiency: an enzyme histochemical and targeted mutation approach to the diagnosis of a novel mutation. H. Vogel, L. J. Wong, E. J. Prijoles, A. M. Dubin, G. M. Enns.

1333/C Chemokine Levels and Their Receptors are Increased in Hermansky Pudlak Syndrome Type I. H. Dorward, T. Markello, W. A. Gahl.

1334/A Identification of Polymorphisms with Remedial Metabolic Impact. N. Marini, J. Ziegle, J. Gin, K. Hunkapiller, D. Ginzinger, D. Gilbert, J. Rine.

1335/B Severe Liver Disease and Urea Cycle Disorders. K. Cusmano-Ozog, S. L. Rutledge, A. Boneh, G. Gottesman, M. Tuchman, L. Pickler, J. Van Hove, G. M. Enns.

1336/C Cerebrotendinous Xanthomatosis: early presentation and response to treatment with Chenodeoxycholic acid. M. T. Geraghty, P. Chakraborty, C. Armour, L. Kratz.

1337/A Genetic Profiling of Tay Sachs neuroglia cells and delineation of events associated with disease mechanism. S. A. Igdoura, B. Trigatti, J. P. King.

1338/B A second family with COG7 deficiency reveals a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. E. Morava, R. Zeevaert, E. Korsch, D. J. Lefeber, K. Huijben, S. Wopereis, G. Matthijs, R. Wevers.

1339/C Fabry disease in women and daughters: the key role of family history in the diagnosis, the dilemmas of treatment and prenatal diagnosis. A. Raas-Rothschild, B. Mitchnick, A. J. J. T. Rein, M. Zeigler, G. Bach, R. Backenroth.

1340/A Succinate dehydrogenase deficiency associated with chronic neutropenia. F. Scaglia, A. M. Adesina, J. V. Hunter, L.-J. C. Wong.

1341/B Females with X-linked Fabry disease frequently have significant organ involvement. W. R. Wilcox, D. P. Germain for the Female Working Group of the North American and European Fabry Registry Board of Advisors.

1342/C Tubulopathy and pancytopenia with normal pancreatic function: A variant of Pearson syndrome. A. Atale, A. Rotig, A. Fischer, S. Perez-Martin, C. Thauvin-Robinet, P. Bonneau-Amati, F. Huet, L. Faivre.

1343/A The genetics of Hermansky-Pudlak Syndrome. R. Hess, A. Helip-Wooley, R. Kleta, M. Huizing, W. A. Gahl.

1344/B Clinical Complications in Adults with Congenital Disorders of Glycosylation type Ia (CDG-Ia). D. Krasnewich, K. O'Brien, S. Sparks.

1345/C Genotype-phenotype correlation: a comparison between MPS II siblings. T. A. Vieira, I. V. Schawrtz, L. L. C. Pinto, M. V. Muñoz, A. Pires, R. Giugliani.

1346/A Long-term follow-up of a 21 year old female with methylcobalamin-treated methionine synthase deficiency. D. Adams, B. Brooks, J. Sloan, J. Filiano, H. Levy, C. Venditti.

1347/B Characterization of New SBCAD Gene Sequence Variants in Patients with 2-Methylbutyrylglycinuria Identified by Newborn Screening with Tandem Mass Spectrometry. J. Alfardan, N. Majumder, D. Matern, J. Kant, J. Vockley.

1348/C Oxidative stress in treated Maple Syrup Urine Disease patients. A. G. Barschak, A. Sitta, M. Deon, M. C. Pigatto, T. Terroso, A. Barden, C. S. Dutra-Filho, M. Wajner, R. Giugliani, C. R. Vargas.

1349/A Unusual coexistence of mild PKU and Fabry disease: case report. D. Concolino, M. Rapsomaniki, M. T. Moricca, E. Disabella, E. Arbustini, P. Strisciuglio.

1350/B Lysinuric protein intolerance is present worldwide and is not a rare disorder. S. Fecarotta, M. P. Sperandeo, P. Annunziata, P. Piccolo, A. Pepe, G. Andria, G. Sebastio.

1351/C Is disease severity in alkaptonuria modified by a common SNP in the organic anion transporter MRP4 / ABCC4? M. A. Kayser, P. Suwannarat, W. Introne, H. A. Austin, M. Tuchman, B. Tinloy, C. Klein, K. O'Brien, I. Bernardini, W. A. Gahl, R. Kleta.

1352/A Genetic testing of nonketotic hyperglycinemia: detection of genomic deletion within GLDC by multiplex ligation-dependent probe amplification. S. Kure, J. Kanno, T. Hutchin, F. Kamada, A. Narisawa, Y. Aoki, Y. Matsubara.

1353/B Mutation spectrum in nonketotic hyperglycinemia. J. Van Hove, G. Scharer, E. Spector, V. Mahieu, E. Schollen, G. Matthijs, C. Freehauf, C. Wilson.

1354/C Is alpha-1-antitrypsin a modifier gene for Cystic Fibrosis? R. Mirfakhraie, M. Gorgipoor, F. Mirzajani.

1355/A Natural History of MPS II: Clinical Aspects. L. L. C. Pinto, I. V. D. Schwartz, M. V. R. Muñoz, T. A. Vieira, R. Giugliani.

1356/B Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C deficiency. P. Tanpaiboon, P. F. Callahan, J. Sloan, D. Zand, U. Lichter-Konecki, C. P. Venditti.

1357/C Results from a Multi-national, Multicenter, Prospective, Observational Study in Patients with Late-onset Pompe disease. J. Wokke, D. Escolar, A. Pestronk, P. Laforet.

1358/A Coexistence in the same family of both focal and diffuse forms of hyperinsulinism. F. Sauvat, V. Valayannopoulos, M. Vaxillaire, F. Jaubert, J. Rahier, M. Ribeiro, M. Polak, C. Nihoul-Fekété, P. de Lonlay.

1359/B Congenital hyperinsulinism in Kabuki syndrome. D. Genevieve, D. Sanlaville, C. Bellane, C. Bernardini, A. Munnich, M. Vekeman, B. Isidore, M. Rio, V. Cormier-Daire, S. Lyonnet, P. de Lonlay, J. Amiel.

1360/C Common genetic variants of the ion channel transient receptor potential membrane melastatin 6 and 7 (TRPM6 and TRPM7), magnesium intake, and risk of type 2 diabetes in women. Y. Song, Y. H. Hsu, J. E. Manson, J. E. Buring, S. Liu.

1361/A Screening of Nuclear Genes Encoding Proteins Critical For Mitochondrial Genome Replication and Maintenance, and Physiological Function: Retrospective Analysis of Clinical Samples Manifesting Mitochondrial Disorder Phenotypes Without Known Pathogenic Mutations Or Deletions In Mitochondrial DNA. M. Koul, J. Hempel, S. Edstrom, J. Stoddard, B.-L. Wu, S. Lilleberg.

1362/B FOS — the Fabry Outcome Survey — a newly expanded global outcomes database for patients with Fabry disease. M. Beck, J. Clarke, A. Linhart, A. Mehta, G. Sunder-Plassmann on behalf of the FOS Investigators.

1363/C Animal Model of Fabry disease: new findings. L. G. Rodrigues, M. Pais-Vieira, M. J. Ferraz, M. C. Sá-Miranda.

1364/A PCSK9, from gene to protein and plasma. M. Abifadel, B. Jessica, A. Marques, M. Devillers, D. Erlich, J. P. Rabès, C. Boileau, M. Varret.

1365/B Genotype-phenotype correlations in MCADD. G. L. Arnold, R. Erbe, K. Verdassdonk, P. A. Galvin-Parton, D. F. Kronn.

1366/C Understanding diseases associated with mutations in the GNE gene, coding for UDP-GlcNAc 2-epimerase/ManNAc kinase. C. Ciccone, D. Krasnewich, R. Klootwijk, I. Manoli, S. Sparks, W. A. Gahl, M. Huizing.

1367/A Glycerol Kinase Expression Increases Metabolic Flux through the Pentose Phosphate Pathway: Implications for Glycerol Kinase Deficiency. K. Dipple, L. Rahib, J. He, A. E. Campos, J. C. Liao, G. Sriram.

1368/B Lack of response to high dose ERT in a patient with Type III Gaucher Disease and a mesenteric mass consisting of Gaucher Cells. D. Freedenberg, M. Dudek, G. Tiller, A. Bircher, W. Rhead.

1369/C Feasibility of neonatal screening of lysosomal tripeptidyl peptidase 1 (TPP1) for classical late-infantile neuronal ceroid lipofuscinosis (NCL2). Y. Huang, W. Ju, N. Zhong.

1370/A X-Linked Creatine Transporter Deficiency Presenting as a Mitochondrial Disorder. K. Limbo, C. Parker, J. Vockley, T. Wood, M. Friez, O. A. Abdul-Rahman.

1371/B Heritability of plasma amino acid levels in different nutritional states. K. L. McBride, J. W. Belmont, W. E. O'Brien, T. J. Amin, S. Carter, B. H. Lee.

1372/C A reliable, quantitative method for GSH and GSSG determination using tandem mass spectrometry. A. K. Niemi, G. M. Enns, T. Kwan, K. R. Atkuri, T. M. Cowan.

1373/A First report: phenotypic and Molecular analysis in an extensive Colombian Pedigree with Fabry disease. P. Paez, A. Lopez, S. Ospina, N. Gelvez, C. Duran, J. C. Prieto.

1374/B Development of a high-throughput assay for the identification of small molecule inhibitors of human galactokinase. K. J. Wierenga, K. Lai.

1375/C Progressive CNS lesions in (GCase) null with skin rescued mice and conduritol B epoxide injected Gaucher mice. Y.-H. Xu, R. Reboulet, B. Quinn, J. Huelsken, G. A. Grabowski.

1376/A GNPTA Disorders: Mutations in 25 patients with Mucolipidosis II and III. R. Bargal, M. Zeigler, A. Abu-Libdeh, V. Zuri, H. Mandel, Z. Ben Neriah, F. Stewart, N. Elcioglu, T. Hindi, M. Le Merrer, M. Penttinen, G. Bach, A. Raas-Rothschild.

1377/B Study of CFTR gene mutations in Iranian CF patients. F. Mirzajani, R. Mirfakhraie, M. Amiri, M. Jalalirad, H. Kianifar, M. Rafiei, E. Talachian, M. Houshmand.

1378/C Evaluation of the Risk for Tay-Sachs Disease in Individuals of French Canadian Ancestry Living in New England. M. R. Natowicz, D. C. Martin, B. L. Mark, B. L. Triggs-Raine.

1379/A Increased Specificity for the Detection MSUD by the Addition of a 2nd-tier LC-MS/MS Assay of Alloisoleucine. D. Oglesbee, J. M. Lacey, C. D. Spolar, K. A. Strauss, B. Casetta, S. Tortorelli, S. H. Hahn, P. Rinaldo, D. Matern.

1380/B Expression profiling supports peroxisome proliferator-activated receptor alpha (PPARa) activation in livers of 70kDa Peroxisomal Membrane Protein (PMP70) deficient (Abcd3-/-) mice. I. Silva-Zolezzi, S. Bradley, D. Valle, G. Jimenez-Sanchez.

1381/C Dynamics of GLB1 gene expression levels by RT PCR and molecular analysis of GM1 gangliosidosis and Morquio B patients. A. Caciotti, M. A. Donati, E. Procopio, M. Filocamo, W. Kleijer, W. Wuyts, B. Blaumeiser, A. D'Azzo, L. Simi, C. Orlando, F. McKenzie, A. Fiumara, E. Zammarchi, A. Morrone.

1382/A Lysosomal Disease Network launches research Web site. D. Erickson, J. Barranger, J. Muenzer, C. Eng, G. Grabowski, J. O'Brien, G. Pastores, E. Shapiro, R. Steiner, W. Wilcox, S. Walkley, B. Davidson, S. Patel, B. Wedehase, C. Whitley.

1383/B Phenotypic heterogeneity of N370S homozygotes with type 1 Gaucher disease: An analysis of 798 patients from the ICGG Gaucher Registry. C. Fairley, A. Zimran, M. Cizmarik, J. Yee, N. Weinreb, S. Packman.

1384/C Mucolipidosis II and III: Clinical and Molecular Characterization. M. Friez, S. Cathey, K. Draper, J. Leroy.

1385/A Hermansky-Pudlak Syndrome in Non-Puerto Rican Hispanic Children. G. A. Golas, R. Hess, A. Helip-Wooley, M. Huizing, W. A. Gahl.

1386/B Neonatal screening for Pompe disease: result from the Taiwan screening program. W.-L. Hwu, J. Keutzer, S.-C. Chiang, X. Zhang, Y.-H. Chien, N.-C. Lee, S. Young, D. Millington, M. Fietz.

1387/C Psychosocial Outcomes of Bone Marrow Transplant for MPS I Hurler Disease: Patient Self Report of Personality and Personal Adjustment. C. Pitt, C. Lavery, N. Wager.

1388/A Leptin and adiponectin in Gaucher disease. A. Rosenberg, G. Litvin, G. Altarescu, A. Zimran, D. Elstein.

1389/B Aortic smooth muscle reactivity in a-galactosidase A knockout mice. P. Rozenfeld, M. Frtiz, A. Kulkarni, R. Brady, C. Fossati, G. Rinaldi.

1390/C Quantitative determination of gangliosides in the cerebrospinal fluid of patients with GM2 gangliosidosis using tandem mass spectrometry. C. J. Tifft, J. Gu, J. Kurtzberg, R. L. Proia, S. J. Soldin.

1391/A OST3 mutation in nonsyndromic mental retardation expands the spectrum of Congenital Disorders of Glycosylation? F. Molinari, S. Romano, W. Morelle, P. de Lonlay, A. Munnich, L. Colleaux.

1392/B Expanding spectrum of CDG-Ig: Siblings with prenatal-onset skeletal dysplasia, B-cell lymphopenic hypogammaglobulinemia, cardiac and genital malformations, and fatal outcome. A. A. Basinger, C. Kranz, M. Gucsavas-Calikoglu, C. M. Powell, F. W. Henderson, H. H. Freeze, A. S. Ayslworth.

1393/C Classical and Duarte galactosemia: Newborn screening, biochemical phenotype, and clinical outcome. A. Cunningham, C. Techakittiroj, R. Sharma, C. T. Dvorak, P. Hooper, D. Baye, H. C. Andersson.

1394/A The characterization of RNA instability mutations in carbamyl phosphate synethetase I (CPSI) through inhibition of nonsense mediated decay. A. Eeds, D. Mortlock, R. Wade-Martins, M. Summar.

1395/B Functional characterization of an R488H mutation in the plasma membrane carnitine transporter OCTN2, identified in a patient with moderate but symptomatic carnitine deficiency. R. Gallagher, T. Urban, C. Morgan, S. Packman, K. Giacomini.

1396/C Chronic subdural hematomas in a male with ornithine transcarbamylase deficiency. M. Gucsavas-Calikoglu, J. Koepke, M. Tennison, R. Greenwood, J. Muenzer.

1397/A Interaction of Hermansky Pudlak Proteins Within Biogenesis of Lysosome-related Organelle Complex-2. P. K. Held, W. Westbroek, M. Ayub, H. Dorward, A. Helip-Wooley, M. Huizing, W. A. Gahl.

1398/B Sequencing Analysis of two Iranian patients with Allgrove Syndrome. L. Komeilian, S. Salehpour, H. Tonekaboni, M. Houshmand.

1399/C Deletion or duplication of multiple exons account for a significant percentage of mutant GLDC alleles in glycine encephalopathy. B. Kuchinka, J. Toone, J. Mitchell, R. Martin, K. Martin, D. Applegarth, B. Casey.

1400/A The experience of a newborn screening referral/treatment site with expanded newborn screening. P. Levy.

1401/B Acute presentation of beta ketothiolase deficiency: should PALS take into consideration metabolic disorders? L. Lukose, T. Markello.

1402/C A Fourth Phenotype for Autosomal Dominant Hypercholesterolemia. A. Marques, M. Abifadel, J. Bonneau, K. Ougerram, Y. Zair, M. Devillers, D. Erlich, M. Krempf, C. Junien, A. Munnich, J.-P. Rabès, C. Boileau, M. Varret.

1403/A Utility of acylcarnitine analysis by LC-MS for follow-up of abnormal C5OH on MS/MS screening. S. E. McCandless, M. Stoll, P. E. Minkler, S. Yang, C. L. Hoppel.

1404/B Molecular analysis of MCCC1 and MCCC2 genes of infants whose newborn screening results are suggestive of 3MCCD. P. B. McWhorter, J. D. Cogan, R. Hamid, M. T. Weingartner, J. A. Phillips III.

1405/C SLOS like phenotype in two sisters with low serum cholesterol and normal enzymatic activities of cholesterol pathway, a new cholesterol disorder? M. Michelson, C. Vinkler, T. Lerman-Sagie, D. Lev.

1406/A Molecular Diagnosis of Norrie Disease. G. Modabber, M. Houshmand, M. H. Sanati.

1407/B Novel mutations in four patients with pyruvate carboxylase deficiency. S. Monnot, V. Serre, B. Chadefaux-Vekemans, S. Romano, P. De Lonlay, J. Aupetit, V. Paquis, A. Munnich, J. P. Bonnefont.

1408/C Mucopolysaccharidosis IVA: characterization of novel mutations causing attenuated phenotype. A. M. Montaño, K. Sukegawa, Z. Kato, R. Carrozzo, P. Di Natale, E. Christensen, T. Orii, N. Kondo, S. Tomatsu.

1409/A Newborn Screening Programs in Asia: program Implementation and Strategic Policy Formulation. C. Padilla.

1410/B A mouse model for Sjögren-Larsson syndrome produced by targeted knockout of the ALDH3A2 gene encoding fatty aldehyde dehydrogenase. W. B. Rizzo, G. Carney, J. Bridger, R. Spieker, L. Bunnell, L. Spaulding, J. A. Stribley, J. M. Salbaum.

1411/C SLC3A1 knockout mice model human cystinuria. A. Sahota, E. Cui, H. J. Vernon, M. Yang, J. Chen, C. Osborne, E. Stambrook, S. Bledsoe, A. P. Evan, J. A. Tischfield.

1412/A Genetic mutations on acid a-glucosidase gene of Brazilian Pompe patients according to the Pompe Registry. A. A. P. Santa Rosa, S. K. N. Marie, J. C. Llerena, C. R. Berditchevsky, H. Pimentel, C. D. Marrone.

1413/B Unusual presentation of partial hypoxanthine phosphoribosyltransferase deficiency in a female patient. I. Sebesta, O. Martincova, B. Stiburkova, L. Dvorakova, M. Hrebicek, J. Minks, Z. Vernerova, I. Rychlik.

1414/C Unexpected results of molecular diagnostics in a patient with CDG Ia. K. Vesela, T. Honzik, H. Hansikova, E. Schollen, G. Matthijs, J. Zeman.

1415/A Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic review and meta-analysis. S. E. Waisbren, H. Leibowitz, K. Fahrbach, K. Noel, A. Dorenbaum, H. Levy.

1416/B Hearing loss in biotinidase deficiency: preliminary results indicate genotype-phenotype correlation. B. Wolf, H. S. Sivri Kalkanoglu, G. A. Genc, L. Sennaroglu, H. I. Aydin, A. Dursun, A. Tokatli, T. Coskun.

1417/C Carnitine palmitoyltransferase-1b (CPT-1 muscle isoform) deficiency in the mouse. P. A. Wood, S. Ji, D. A. Hamm, J. Kerner, C. L. Hoppel, T. R. Schoeb, W. S. H. Chick, Y. You.

1418/A Novel mutations in medium-chain acyl-CoA dehydrogenase gene. B. Z. Yang, J. H. Ding, L. Sweetman, C. R. Roe.

1419/B Low serum carnitine in patients with phenylketonuria may not be due to inadequate carnitine intake. S. Yano, K. Moseley, E. Baldwin, R. Koch.

1420/C Defining the importance of mitochondrial gene defects in Maternally Inherited Diabetes and Deafness and in neuromuscular presentations suggesting respiratory chain dysfunction: Screening of the entire mitochondrial genome in 100 patients with Surveyor™ nuclease strategy. S. Bannwarth, V. Procaccio, C. Rouzier, B. Vialettes, D. Raccah, B. Chabrol, C. Desnuelle, J. Pouget, J. F. Pellissier, D. Wallace, J. C. Lambert, V. Paquis-Flucklinger.

1421/A Mutations in the ND5 subunit of complex I of the mtDNA are a frequent cause of OXPHOS disease. M. J. Blok, L. Spruijt, I. F. M. DeCoo, K. Schoonderwoerd, A. Hendrickx, H. J. M. Smeets.

1422/B Identification of a novel locus for mitochondrial DNA depletion. J. Mollet, J. P. Jais, E. Sarzi, D. Chretien, A. Munnich, A. Rotig.

1423/C Mitochondrial DNA depletion is a major cause of multiple respiratory chain defects. E. Sarzi, A. Bourdon, D. Chretien, M. Zahrate, J. Corcos, A. Slama, V. Cormier-Daire, P. de Lonlay, A. Munnich, A. Rotig.

1424/A Mt-DNA deletions in muscle biopsies: interpretation and analysis of responsible genes. M. Tesarova, T. Honzik, J. Buzkova, H. Hansikova, J. Zeman.

1425/B A lethal autosomal dominant defect of mitochondrial and peroxisomal fission. H. R. Waterham, J. Koster, C. W. T. van Roermund, P. A. W. Mooijer, J. V. Leonard, R. J. A. Wanders.

1426/C MtDNA mutations in Leigh syndrome expression: recurrent incidence of the ND5 genetic defect. S. Zhadanov, E. Grechanina, Y. Grechanina, V. Gusar, N. Fedoseeva, S. Lebon, A. Munnich, T. Schurr.

1427/A Iminoglycinuria: molecular findings. R. Kleta, T. Coskun, B. Tinloy, H. I. Aydin, M. Gunay-Aygun, H. Stanescu, I. Bernardini, W. A. Gahl.

1428/B Elastogenesis in MPS IVA patients' fibroblasts and identification of mutations in GALNS gene. L. Carraresi, M. A. Donati, A. Caciotti, E. Procopio, C. Valleriani, R. Parini, G. Sersale, D. Antuzzi, R. Ricci, O. Gabrielli, G. Parenti, M. Sibilio, M. Filocamo, S. Tomatsu, A. D'Azzo, A. Morrone, E. Zammarchi.

1429/C Biochemical and molecular analysis of 14 patients with thiamine-responsive pyruvate dehydrogenase deficiency. E. Naito, M. Ito, I. Yokota, Y. Kotani, K. Shinahara.

Mapping, Linkage and Linkage Disequilibrium

1430/A A novel autosomal recessive degenerative phenotype of cerebellar atrophy: homozygosity mapping to a 1.5cM locus on chromosome 22. S. Khateeb, O. Birk, R. Ofir, H. Flusser.

1431/B Identification of a novel region for AIS on chromosome 12p with an autosomal recessive model of inheritance. P. Giampietro, C. Raggio, C. Zhao, D. Dorshorst, S. Dobrin, J. Weber, R. Blank.

1432/C Homozygosity Mapping of Autosomal Recessive Disease Gene in Patient of a Consanguineous Family by High Density Oligonucleotide Arrays. J.-Y. Wu, H. H. Wang, C. F. Chang, F. J. Tsai, Y. T. Chen.

1433/A Allelic heterogeneity in autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P). K. Maeda, R. Kaji, S. Makino, K. Yasuno, H. Takashima, M. Nakagawa.

1434/B Suggestive evidence for linkage to chromosome 4qter for autosomal dominant distal motor neuronopathy. M. Muglia, A. Magariello, L. Citrigno, L. Passamonti, A. Patitucci, F. L. Conforti, A. L. Gabriele, R. Mazzei, T. Sprovieri, C. Ungaro, M. Bellesi, A. Quattrone.

1435/C Homozygosity mapping in 13 families with autosomal recessive primary microcephaly: linkage of three families to MCPH3 locus on Chr. 9q34. A. J. Parsian, M. A. Karim, M. Cleves, A. Jankhah, S. M. Elsayed, E. Elsobky, A. Parsian.

1436/A Linkage analysis identifies a novel locus for Restless Legs Syndrome on chromosome 2q in a South Tyrolean population isolate. I. Pichler, F. Marroni, C. Beu Volpato, S. Pedrotti, J. F. Gusella, C. Klein, G. Casari, A. De Grandi, P. P. Pramstaller.

1437/B Genome-wide linkage analysis of two Norwegian families with epilepsy. K. K. Selmer, T. Egeland, M. H. Solaas, K. Brandal, K. O. Nakken, L. A. Corey, D. E. Undlien.

1438/C Genetic study of a large Chinese motor neuron diseases (MND) family. Y. Q. Song, G. C. Y. Fong, W. L. Ho, H. H. Kwok, C. Y. Chu, Y. Li, P. Sham, S. L. Ho.

1439/A Fine-mapping of a large multiplex neural tube defect (NTD) family at 2q and 7p. D. S. Stamm, L. Mehltretter, S. Slifer, B. Zhao, D. Siegel, T. M. George, J. R. Gilbert, M. C. Speer.

1440/B Unbiased Evaluation of TagSNP Panels' Genetic Coverage. K. Hao, S. Cawley.

1441/C Accounting for genotyping errors in tagging SNP selection. W. Liu, T. Yang, W. Zhao, G. A. Chase.

1442/A Validation and implementation of a panel of SNPs for large-scale zygosity testing and population genetics. U. Hannelius, C. M. Lindgren, C. Lagerberg, V.-V. Mäkelä, A. Lindstedt, L. Gherman, G. Tybring, J. Kere.

1443/B Genetic Investigation of Hearing loss in Iranian Population (a seven year survey). H. Najmabadi, N. Meyer, K. Kahrizi, Y. Riazalhosseini, A. Daneshi, M. Farhadi, M. Mohseni, N. Bazazzadegan, F. Esteghamat, M. Avenarius, C. Nishimura, M. Malekpour, S. Arzhangi, R. J. H. Smith.

1444/C Significant Linkage to Airway Responsiveness on Chromosome 12q24 in Families of Children with Asthma in Costa Rica. J. C. Celedon, M. E. Soto-Quiros, L. Avila, S. L. Lake, C. Liang, E. Fournier, M. Spesny, C. P. Hersh, J. S. Sylvia, T. J. Hudson, A. Verner, B. J. Klanderman, N. B. Freimer, E. K. Silverman, S. T. Weiss.

1445/A Searching for novel genes predisposing to breast cancer: a high-density linkage scan at the telomeres. S. Casadei, T. Walsh, J. Higgins, K. Roach, S. Stray, M. K. Lee, M.-C. King.

1446/B Linkage disequilibrium in an isolated population from Norfolk Island. C. Bellis, K. N. Begley, R. M. Hughes, S. Quinlan, R. A. Lea, S. C. Heath, J. Blangero, L. R. Griffiths.

1447/C A new locus for keloids with hypertrophic scarring. L. Boon, M. Amyere, M. Vikkula.

1448/A Variations in RANK Gene are Associated with Adult Height in Caucasians. Y. Chen, D. H. Xiong, T. L. Yang, F. Yang, H. Jiang, F. Zhang, H. Shen, P. Xiao, H. W. Deng.

1449/B Exclusion of MSX1 and PAX9 gene mutations in four families with anodontia. P. Gambhir, S. K. Nath, J. V. Solanki, U. C. Patel, R. Memon, U. Ratnamala, U. Radhakrishna.

1450/C Association between genes on Chr 4p16 and Nonsyndromic Oral Clefts in 4 Populations. R. G. Ingersoll, J. B. Hetmanski, J. W. Park, M. D. Fallin, I. MacIntosh, E. W. Jabs, C. VanderKolk, Y. H. Wu-Chou, P. K. Chen, V. Yeow, S. S. Chong, F. Cheah, J. W. Sull, S. H. Jee, A. F. Scott, T. H. Beaty.

1451/A A locus for an autosomal dominant paroxysmal abdominal pain maps to 8q13.2-22.3. B. Kremeyer, N. G. Pineda-Trujillo, M. W. Burley, F. Lopera, G. Bedoya, A. Ruiz-Linares.

1452/B Association of POU2F1 genetic polymorphisms with type 2 diabetes in Hong Kong Chinese. V. K. L. Lam, J. S. K. Ho, W. Y. So, R. C. W. Ma, J. C. N. Chan, M. C. Y. Ng.

1453/C A novel autosomal dominant Hereditary Spastic Paraplegia with generalized dystonia: linkage to 2q34-2q31. E. Leslie, D. Gilbert, M. Keddache, N. Leslie.

1454/A Variants in FOXE1 are Highly Associated with Nonsyndromic Cleft Lip with or without Cleft Palate. M. A. Mansilla, L. M. Moreno, M. Johnson, S. A. Bullard, A. Jugessur, R. T. Lie, A. Wilcox, K. Christensen, T. H. McHenry, B. S. Maher, M. E. Cooper, P. Chines, A. C. Lidral, M. L. Marazita, J. C. Murray.

1455/B Association of ENPP1 Variants with Quantitative Measure of Glucose Homeostasis and Adiposity: The IRAS Family Study. N. Palmer, A. Lehtinen, J. Campbell, J. Norris, M. Bryer-Ash, S. Haffner, C. Langefeld, D. Bowden.

1456/C Genetic Variants in ADIPOR2 are Strongly Associated with Triglyceride and Adiponectin levels in Mexican Americans. D. K. Richardson, J. Schneider, J. Blangero, M. P. Stern, R. A. DeFronzo, R. Duggirala, C. P. Jenkinson.

1457/A An Apoptosis Gene Differentiates Childhood Absence Epilepsy from Juvenile Absence Epilepsy. L. J. Strug, M. Durner, E. Cayanis, F. Zhang, D. Politis, I. Klotz, E. Dicker, D. A. Greenberg, Our collaborators, critical to this study. Space limitations make it impossible to name them here.

1458/B HNF4A variants predispose to high serum lipid levels and the metabolic syndrome. D. Weissglas, A. Huertas-Vazquez, T. Tusie-Luna, C. Aguilar-Salinas, M.-R. Taskinen, T. W. de Bruin, C. J. van der Kallen, P. Pajukanta.

1459/C Association between Low-density Lipoprotein Receptor-Related Protein 5 (LRP5) Gene and Bone Mineral Density in Caucasian and Chinese Populations. D. H. Xiong, S. F. Lei, L. Wang, W. Wang, H. Shen, H. W. Deng.

1460/A HDC Gene Polymorphisms Are Associated with Age at Natural Menopause in Caucasian Women. F. Zhang, D. H. Xiong, W. Wang, H. Shen, P. Xiao, F. Yang, H. W. Deng, * The first two authors contribute equally to this work.

1461/B Plasma Adiponectin is associated with Ghrelin receptor in African-Americans. X. Zhu, H. N. Lyon, T. Bersaglieri, M. Egyud, D. Kan, R. S. Cooper, J. N. Hirschhorn.

1462/C Simulating association studies: a data-based resampling method for candidate regions or whole genome scans. F. Zou, H. Huang, X. Guan, K. Gamiel, C. Jeffries, W. T. Barry, F. Pardo-Manuel, P. F. Sullivan, K. C. Wilhelmsen, F. A. Wright.

1463/A A novel de novo frameshift mutation of the EDA gene in a Chinese family with hypohidrotic ectodermal dysplasia. X. Tu, Q. Yang, C. Huang, T. Ke, Q. Wang, M. Liu.

1464/B Evidence of a new QTL for BMI on chromosome 1 in the isolated population of Campora. M. Ciullo, C. Bourgain, V. Colonna, C. Bellenguez, T. Nutile, M. Astore, A. Calabria, M. G. Persico.

1465/C Linkage study of familial thoracic aortic aneurysms and dissections to known chromosomal loci. D. C. Guo, H. Pannu, V. T. Tran-Fadulu, N. Avidan, R. K. Yu, A. L. Estrera, H. J. Safi, M. C. Willing, D. Divecha, J. H. Chen, J. Yuan, R. He, S. E. Scherer, S. Shete, D. M. Milewicz.

1466/A Chiari type I malformation: phenotypic definition by MRI and significant linkage to 15q21.3 and 9q22.31 with a high-density SNP genomic screen. A. L. Boyles, D. S. Enterline, P. H. Hammock, D. G. Siegel, S. H. Slifer, L. Mehltretter, J. R. Gilbert, D. Hu-Lince, D. Stephan, B. J. Iskandar, T. M. George, T. H. Milhorat, M. C. Speer.

1467/B A High Density SNP Genome Screen For Age Related Macular Degeneration Reveals Novel Loci. M. A. Hauser, S. Schmidt, R. R. Allingham, P. Gallins, W. K. Scott, A. Argawal, E. Postel, K. L. Spencer, J. L. Haines, M. A. Pericak-Vance.

1468/C Clinical phenotype and autozygosity mapping of phenotypic diarrhea of infancy. J. L. Hartley, P. Gissen, B. Dawood, S. Watson, R. Pollitt, W. H. Kahr, D. Chitayat, D. A. Kelly, C. A. Johnson.

1469/A Tachyon: a new frontier for exact multipoint likelihood calculations on large pedigrees. J. R. O'Connell.

1470/B Rapid Analysis and Visualization of Genomewide Association Data with GWAVA. J. E. Wigginton, G. R. Abecasis.

1471/C Genome-wide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence for linkage at 13q33.1-34. S. Beiraghi, U. Ratnamala, M. Gaines, D. Hutchings, S. A. Husain, P. S. Gambhir, J. J. Sheth, F. J. Sheth, G. K. Chetan, M. Naveed, J. V. Solanki, U. C. Patel, R. Memon, G. S. Antonarakis, S. E. Antonarakis, S. K. Nath, U. Radhakrishna.

1472/A Identification of a genetic locus for Donnai-Barrow syndrome. S. Kantarci, P. K. Donahoe, R. S. Hill, L. Al-Gazali, D. Lacombe, N. Chassaing, E. Bieth, G. Black, D. Donnai, C. Walsh, B. R. Pober.

1473/B Ordered Stratification to Reduce Obesity Heterogeneity in Linkage Analyses of Type 2 Diabetes Quantitative Traits. A. K. Manning, J. Dupuis, C. Lui, C. Fox, L. A. Cupples, J. Meigs.

1474/C Variants in the Trehalase Gene (TREH) are Associated with Type 2 Diabetes Mellitus and Determine Trehalase Activity in Pima Indians. Y. Muller, G. Nishimoto, J. Loebel, R. Hanson, S. Kobes, J. Goswami, W. Knowler, C. Bogardus, L. Baier.

1475/A Gender-specific linkage of quantitative traits for obesity in Hong Kong Chinese. M. C. Y. Ng, C. H. T. Tam, V. K. L. Lam, J. C. N. Chan.

1476/B Genome-wide Scan of Factors for the Metabolic Syndrome in Non-diabetic Hong Kong Chinese. C. H. T. Tam, M. C. Y. Ng, V. K. L. Lam, J. C. N. Chan.

1477/C Large-scale genomewide association analysis of multiple disease phenotypes: The Wellcome Trust Case-Control Consortium Study. P. Donnelly for the Wellcome Trust Case-Control Consortium.

1478/A Genome scanning of chromosome 21 identifies DYRK1A gene as a risk factor for late-onset Alzheimer disease. R. Kimura, K. Kamino, M. Yamamoto, T. Tanaka, T. Kudo, H. Akatsu, H. Yamagata, T. Miki, M. Takeda.

1479/B Genome-wide scan for split-hand/foot malformation with long bone deficiency (SHFLD) (OMIM 119100) in a large multigenerational UAE family shows a novel susceptibility locus on chromosome 1q42.13-1q43. M. Naveed, M. T. Al-Ali, S. K. Murthy, S. Al-Hajali, N. Al-Khaja, U. Ratnamala, A. Bottani, S. E. Antonarakis, M. Gaines, J. Golla, D. Hutchings, S. K. Nath, U. Radhakrishna.

1480/C Fine mapping and candidate gene screening within a major familial Ménière disease locus on human chromosome 14. M. E. S. Bailey, Y. Lowe, C. MacKay, A. W. Morrison, G. A. J. Morrison.

1481/A Genetic heterogeneity in hereditary capillary malformation. M. Amyere, I. Eerola, N. Revencu, L. Boon, M. Vikkula.

1482/B A genome-wide scan suggests a region on chromosome 16p is a determinant of serum ferritin after adjusting for HFE: The HEIRS Family Study. R. Acton, B. Snively, J. Barton, C. McLaren, P. Adams, S. Rich, J. Eckfeldt, R. Press, P. Sholinsky, C. Leiendecker-Foster, G. McLaren, M. Speechley, E. Harris, F. Dawkins, V. Gordeuk.

1483/C Linkage studies in an Ecuadorian population with Keratoconus. B. A. Bejjani, D. Winters, A. Molinari, J. A. Pitarque, M. H. Chahrour, S. M. Leal, M. Gajecka, R. A. Lewis.

1484/A Linkage study in three Italian families with autosomal dominant nocturnal frontal lobe epilepsy. S. Carrideo, E. V. De Marco, A. Gambardella, A. Labate, F. Annesi, I. C. Cirò Candiano, P. Tarantino, F. E. Rocca, D. Civitelli, M. Caracciolo, G. Annesi.

1485/B Genomewide linkage analysis for aggressive prostate cancer in Utah high risk pedigrees. G. B. Christensen, N. J. Camp, J. M. Farnham, L. A. Cannon-Albright.

1486/C Four Different ABCA4 Mutations in a Large Family, With Several Loops of Consanguinity, Affected With Autosomal Recessive Cone-Rod Dystrophy: Further Evidence for a High Frequency of ABCA4 Heterozygote Carriers. D. Ducroq, S. Shalev, A. Habib, A. Blumenfeld, A. Munnich, J. Kaplan, J. M. Rozet.

1487/A Combined Linkage and Association Mapping of Quantitative Trait Loci with Missing Genotype Data. R. Fan, L. Liu, J. Jung, M. Zhong.

1488/B A new autosomal dominant distal myopathy: linkage to chromosome 3q and candidate gene analysis. A. Gad, D. Chen, M. Matsushita, M. Kumar, L. Chen, J. Wolff, H. Lipe, T. Bird, W. Raskind.

1489/C Usher Syndrome Type 1a: From Myth to Reality. S. Gerber, D. Bonneau, A. Munnich, J. L. Dufier, J. M. Rozet, J. Kaplan.

1490/A Autism Genetics Cooperative: Preliminary results of a combined linkage genome scan. R. Goedken.

1491/B Multipoint PPL analysis of cleft lip with/out cleft palate (CL/P) provides compelling evidence in favor of linkage. M. Govil, M. L. Marazita, J. C. Murray, L. L. Field, V. J. Vieland.

1492/C Identification of distinct QTLs linked to length or weight variability in humans. S. Heath, D. Fradin, J. Lepercq, M. Lathrop, P. Bougnères.

1493/A Identification of susceptibility genes for Behçet's disease using the genomic convergence approach. T. Krug, B. V. Fonseca, G. Jesus, M. F. Moraes-Fontes, A. Bernardino, M. Coutinho, C. Neves, J. Vedes, M. J. Serra, J. Vaz Patto, C. Resende, B. Martins da Silva, J. Correia, C. Vasconcelos, J. Demengeot, J. Crespo, S. A. Oliveira, Portuguese Group for the Study of Behçet's Disease.

1494/B Novel mutation in GJA8 linked with autosomal dominant congenital cataract in an Indian family. V. Kumar, H. C. Hennies, D. Singh, P. Nürnberg, K. Sperling, J. R. Singh.

1495/C A genome-wide scan for quantitative trait loci of serum lactate dehydrogenase -- the Framingham Offspring Study. J.-P. Lin, L. A. Cupples, C. J. O'Donnell.

1496/A Exploiting genetic model information to identify homogenous pedigrees. M. W. Logue, J. W. Park, J. F. Cremer, A. M. Segre, V. J. Vieland.

1497/B Homozygosity mapping in the Old Order Amish identifies a region of Chromosome 3 as linked to obesity related traits. P. F. McArdle, J. R. O'Connell, A. R. Shuldiner, B. D. Mitchell, M. Abney.

1498/C A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe's syndrome. M. A. Melis, M. Addis, C. Meloni, A. Cao, R. Congiu, S. Santaniello, M. Loi, F. Emma, O. Zuffardi, R. Ciccone, G. Sole, M. Cau.

1499/A Rod monochromacy: a genetic heterogeneity in the Tunisian population. F. Ouechtati, A. Merdassi, K. Derouiche, L. Larguech, L. El Matri, S. Abdelhak.

1500/B Genetic Analysis of Benign Positional Paraoxysmal Vertigo. L. R. Peddareddygari, M. Gizzi, D. Gordon, A. Dutra, M. Hirano, A. Abubakr, R. P. Grewal.

1501/C Follow-up linkage mapping and family-based association analyses of SNPs in NTRK2 in the candidate region at 9q22 in the NIMH Alzheimer Disease Genetics Initiative cohort. R. T. Perry, H. Wiener, L. E. Harrell, D. Blacker, R. E. Tanzi, L. Bertram, S. S. Bassett, R. C. P. Go.

1502/A Linkage Analysis of Obesity Related Traits on Chromosomes 3, 7, 10 and 17 in a Yup'ik Eskimo Population. R. Plaetke, Y. Wang, A. Goropashnaya, S. Hopkins, A. G. Comuzzie, G. V. Mohatt, B. B. Boyer.

1503/B A Novel X-Linked Locus for Metacarpal Synostosis. A. Praggastis, Z. Yang, Y. Zhao, J. Baird, E. Pearson, Z. Tong, K. Zhang.

1504/C Autosomal dominant hidradenitis suppurativa is not linked to 1p21.1-1q25.3, in two large multigenerational Indian families. U. Radhakrishna, T. Y. Mehta, J. V. Solanki, U. C. Patel, U. Ratnamala, S. K. Nath.

1505/A Whole genome SNP linkage screen for successful aging loci in the Amish. W. K. Scott, P. J. Gallins, H. J. Munger, J. L. McCauley, L. Jiang, P. C. Gaskell, A. E. Crunk, M. Creason, L. Caywood, D. Fuzzell, C. Knebusch, M. C. Morey, E. R. Hauser, C. E. Jackson, J. R. Gilbert, M. A. Pericak-Vance.

1506/B Impact of haplotype frequency estimation and use of molecularly phased haplotypes in linkage analysis of a candidate gene region with linkage disequilibrium. W. Sieh, C.-E. Yu, T. D. Bird, G. D. Schellenberg, E. M. Wijsman.

1507/C A new autosomal dominant distal arthrogryposis syndrome characterized by plantar tendon contractures in large Utah kindred maps to 2q. D. A. Stevenson, R. Toydemir, K. Swoboda, H. Coon, M. Bamshad.

1508/A The GenDisCAN project (Gene Discovery for Complex traits in Asian population of Northeast) - study design and interim results -. J. Sung, J.-S. Seo, H.-R. Kim, J.-I. Kim, S.-I. Cho, H.-S. Park, M. Lee.

1509/B Linkage and mutational study in two families with Familial Hemiplegic Migraine. P. Tarantino, E. V. De Marco, F. Bono, A. Gambardella, P. Forabosco, S. Carrideo, F. Annesi, D. Civitelli, F. E. Rocca, I. C. Cirò Candiano, G. Annesi.

1510/C Promising susceptibility loci for lipid levels in blood serum detected in extended pedigrees from Samoa. K. Åberg, F. Dai, E. D. Keighley, G. Sun, D. Smelser, S. Viali, J. Tuitele, S. R. Indugula, Q. Zhang, R. Deka, D. E. Weeks, S. T. McGarvey.

1511/A Two stage whole genome linkage analysis of a phonological working memory component phenotype of dyslexia: Identification of a locus on chromosome 4p. Z. Brkanac, N. H. Chapman, R. P. Igo, J. B. Thomson, M. Matsushita, T. Holzman, V. W. Berninger, E. M. Wijsman, W. H. Raskind.

1512/B Whole genome association studies for ADHD using samples from the Quebec founder population. B. Paquin, J. Raelson, P. van Eerdewegh, R. Little, R. Paulussen, V. Bruat, M. Lapalme, J. Hooper, A. Belouchi, T. Keith.

1513/C Negative association between polymorphism rs225014 of DIO2 gene and bipolar disorder. T. Zhang, B. He, N. Zhong.

1514/A Genetic mapping for RET-dependent modifiers in Hirschsprung disease (HSCR). P. Y. Fong, M. Garcia-Barcelo, P. Sham, P. Ng, C. Lau, M. T. So, W. Mak, P. Tam.

1515/B Utilization of whole genome SNP panels for efficient genetic mapping in the mouse. J. L. Moran, A. Bolton, J. Moore, D. Mirel, S. Gabriel, D. R. Beier.

1516/C Complete X-linkage map in the domestic cat (Felis catus). A. Schmidt-Küntzel, E. Eizirik, A. A. Schäffer, S. S. Hannah, B. Neelam, V. David, S. J. O'Brien, M. Menotti-Raymond.

1517/A Dissecting the role of the IL1 Gene Cluster in Ankylosing Spondylitis. A.-M. Sims, J. J. Pointon, A. E. Timms, B. P. Wordsworth, M. A. Brown, The International Genetics of Ankylosing Spondylitis Consortium.

1518/B Linkage studies in autosomal dominant lateral temporal lobe epilepsy: searching for the alternative locus. F. R. Torres, N. S. Ferreira, R. Secolin, M. C. Gonsales, E. Kobayashi, L. A. C. Sardinha, F. Cendes, I. Lopes-Cendes.

1519/C Localization of a Fifth Gene involved in Autosomal Dominant Hypercholesterolemia. M. Varret, M. Abifadel, A. Marques, J. Bonneau, M. Devillers, D. Erlich, A. Munnich, J.-P. Rabès, C. Boileau.

1520/A P-Values for haplotype association may be very different depending on the analysis method. E. Fransen, M. Thys, E. Van Eyken, L. Van Laer, G. Van Camp.

1521/B The New Zealand Maori Population as a Candidate for Admixture Gene Mapping. R. A. Lea, D. Hall, G. K. Chambers, L. R. Griffiths.

1522/C A genome-wide linkage scan of adiponectin levels in the GEMS study. H. Ling, H. Stirnadel, N. Galwey, V. Mooser, D. Waterworth, B. D. Mitchell, The GEMS Investigators.

1523/A Multi Information for Measuring Linkage Disequilibrium among Multiple Loci and its Applications. L. Luo, M. Xiong.

1524/B Evidence for a susceptibility locus for mammographic density. C. M. Vachon, V. S. Pankratz, J. M. Cunningham, E. C. Carlson, C. A. Hilker, A. H. Wang, R. L. Smalley, T. A. Sellers.

1525/C Bivariate Linkage Analysis Identified Genomic Regions for Body Fat Mass and Bone Mineral Density. P. Xiao, Z. H. Tang, H. Shen, H. W. Deng.

1526/A Genome-wide association mapping under the Malecot model and composite likelihood. W. Zhang, A. Collins, W. Jia, C. Hu, N. E. Morton.

1527/B Haplotype analysis of Hailey-Hailey disease in Tunisian families. M. Bchetnia, S. Deghais, R. Benmously, C. Charfeddine, S. Kassar, M. Mokni, S. Boubaker, A. Dhahri Ben Osman, I. Mokhtar, S. Abdelhak.

1528/C “Flip-flop” associations: confirmation or spurious findings? P. I. Lin, J. M. Vance, M. A. Pericak-Vance, E. R. Martin.

1529/A Incorporating single locus tests into haplotype cladistic analysis in case control studies. J. Liu, J. Zhang, C. J. Papasian, H. Deng.

1530/B Applications of Pedigree-Free Identity-By-Descent Mapping to Localizing Disease Genes. S. Nelson, B. Merriman, Z. Chen, M. Ogdie, J. Stone, S. Strom.

1531/C Contactin-associated protein-like 2 is a positional candidate gene for idiopathic adolescent scoliosis. L. M. Nelson, J. Braun, J. W. Ogilvie, K. Ward.

1532/A Morbid obesity is associated with multiple obesity genes: PPARG, UCP2, GNB3, and ESR1. W. H. Pan, H. H. Chen, C. S. J. Fann, W. J. Lee.

1533/B Analysis methods for whole-genome, whole-population association and application to Metabolic Syndrome in the island of Kosrae, Micronesia. I. Pe'er, J. K. Lowe, J. Salit, S. Purcell, M. L. Blundell, P. E. Bonnen, R. P. Lifton, J. L. Breslow, J. M. Friedmann, M. Stoffel, M. J. Daly, D. M. Altshuler.

1534/C Comparison of results for whole genome association studies of schizophrenia using pooled DNA samples and individually genotyped samples. J. Raelson, P. Croteau, V. Perepetchai, P. Van Eerdewegh, R. Allard, H. Fournier, N. Laplante, M. Lapalme, Q. Nguyen-Huu, N. Paquin, B. Paquin, J. Segal, J.-M. Vidal, T. Keith, A. Belouchi.

1535/A Genetic Analysis of Osteoarthritis. B. H. Reck, A. Philip, M. Chiano, U. Atif.

1536/B Genetic analysis for ordinal traits. H. Zhang, Y. Ye, X. Wang.

1537/C Dense SNP marker analysis identifies regions of linkage for rheumatoid arthritis. C. I. Amos, W. V. Chen, X. Liu, D. Mosher, W. Maksymowych, D. Zhu, S. Shete, K. Siminovitch.

1538/A A locus for familial mesial temporal lobe epilepsy mapped on chromosome 18p. C. V. Maurer-Morelli, R. Secolin, R. R. Domingues, R. B. Marchesini, N. F. Santos, E. Kobayashi, F. Cendes, I. Lopes-Cendes.

1539/B Genome-wide mapping of susceptibility to epilepsy-related photosensitivity identifies a novel locus on chromosome 13q13. D. Pinto, U. Tauer, S. Lorenz, H. Muhle, B. A. Neubauer, S. Waltz, K. P. Lenzen, G. Rudolf, G.-J. de Haan, D. Lindhout, B. P. Koeleman, T. Sander, D. G. Kasteleijn-Nolst Trenité, U. Stephani.

1540/C Autosomal Dominant Early Onset Paget's Disease of the Bone and Progressive Proximal Myopathy Maps to Chromosome 16q22.3-q24.1 in a family. G. Watts, E. C. Fulchiero, S. Ramdeen, S. G. Mehta, C. Zhao, V. E. Kimonis.

1541/A Genome-wide linkage scan of blood pressure in the Beaver Dam Eye Study: confirmation of multiple loci and identification of novel loci. C. Xing, B. E. K. Klein, R. Klein, K. E. Klein, S. K. Iyengar.

1542/B Comparison of the mapping coverage provided by model-free and model-based tagging SNP definitions. M. Nothnagel, A. Wollstein, M. Krawczak.

1543/C Redefining a locus for autosomal dominant Fanconi syndrome with kidney failure. H. Stanescu, R. Unwin, T. J. Heikkila, C. Willoughby, C. M. Laing, M. Kashgarian, K. O'Brien, N. Siegel, W. A. Gahl, S. Povey, R. Kleta.

1544/A Efficient Analysis of Associations between Haplotypes and Quantitative Traits in Family Studies. G. Diao, D. Y. Lin.

1545/B Origin of IVS6-1g>t Allele in Fumarylacetoacetate Hydrolase Gene among Hispanic Patients with Tyrosinemia Type I. J.-Y. Huang, D. Xu, C. R. Scott.

1546/C Association Analysis of vitamin D binding protein (DBP) Gene Polymorphisms with Variations of Obesity Related Traits in Caucasian Nuclear Families. H. Jiang, D. H. Xiong, Y. F. Guo, F. Yang, Y. Chen, F. Zhang, H. W. Deng, The first two authors contributed equally to this work.

1547/A Candidate gene analysis at 16q12-13 for SLE susceptibility. S. K. Nath, X. Kim-Howard, F. Ota, M. Gains, P. Viswanathan, R. Vijayaraghavan, D. Mandhyan, J. Kelly, K. Kaufman, J. B. Harley.

1548/B Landmark study of LD in a genetic Sardinian isolate using 500k SNP: prerequisite for GW association approach. N. Pirastu, E. Mocci, G. Mancosu, L. Casula, M. Cosso, F. Marras, M. Pirastu, A. Angius.

1549/C Haplotyping Human Leukocyte Antigen (HLA) and Killer Immunoglobulin-like Receptor (KIR) Genes with Haplotype-Specific Extraction. G. S. Scavello, C. Turino, D. Ferriola, M. Kunkel, J. Dapprich, N. Murphy.

1550/A Genetic Partitioning of Polycystic Ovary Syndrome (PCOS) families provides evidence for two susceptibility loci within the TGFbeta signaling pathway. C. Ackerman, M. Urbanek.

1551/B Association study of the GABA(A) receptor cluster at 15Q12 with autism in the French Canadian population. R. F. Gillis, J. B. Riviere, J. Gauthier, N. Girard, S. Laurent, E. Fombonne, R. Joober, L. Mottron, G. A. Rouleau.

1552/C Phenotype-association based ranking of human disease protein complexes. K. Lage, E. O. Karlberg, Z. M. Størling, P. I. Olasson, O. Rigina, A. Gorm, Z. Tumer, F. Poicot, N. Tommerup, S. Brunak.

1553/A Exclusion of the GOUT1 candidate region on chromosome 4q25 in a large Indian family with an autosomal dominant inherited hyperuricemia and gout. R. Meda, S. K. Nath, J. V. Solanki, U. C. Patel, R. Memon, U. Ratnamala, U. Radhakrishna.

1554/B An algorithm for simulating genetics data based on linkage and linkage disequilibrium maps. C. Chen, L.-Y. Wei, S. S. Shete.

1555/C Localization of chronic obstructive pulmonary disease susceptibility genes on chromosome 2q. C. P. Hersh, R. Lazarus, B. J. Klanderman, B. A. Raby, A. A. Litonjua, D. L. DeMeo, J. J. Reilly, S. T. Weiss, E. K. Silverman.

1556/A KELVIN: a 2nd generation distributed multiprocessor linkage and linkage disequilibrium analysis program. Y. Huang, A. Segre, J. O'Connell, H. Wang, V. Vieland.

1557/B Spurious Evidence for Two Neighboring Disease Loci can be Caused by Different Patterns of Linkage Disequilibrium. I. Ionita, L. J. Strug, J. Zhang, D. A. Greenberg.

1558/C Comparison of linkage disequilibrium patterns between a cohort from Cebu, Philippines and the four populations genotyped by HapMap. A. F. Nave, L. A. Lange, E. M. Lange, Y. Wang, L. S. Adair, K. L. Mohlke.

1559/A Haplotype and copy number variation in the low affinity Fcg receptor 3B in the Pima Indians of Arizona. K. M. Schroeder, V. M. Ossowski, L. Baier, C. Bogardus, M. Prochazka.

1560/B Empirical observations on detection of linkage disequilibria by testing homozygosity of haplotypes. X. Sheng, S. Guha, R. Chakraborty.

1561/C QTL fine-mapping reveals several discrete loci with small individual effects. E. M. Smith, L. Martin, A. Kissebah, M. Olivier.

1562/A Comparison of two admixed populations for MALD: 2,000 years versus 200 years. S. Xu, W. Huang, Y. Wang, H. Wang, J. Qian, L. Jin.

1563/B Empirical evaluation in 8 diverse populations reveals that common variation is well-captured by transferred tags, but tag combinations are highly divergent from specified tests. E. Zeggini, N. W. Rayner, L. R. Cardon, M. I. McCarthy for the International Type 2 Diabetes 1q Consortium.

1564/C Genomewide linkage analysis of components of the metabolic syndrome in the Beaver Dam Eye Study. C. Y. Cheng, K. E. Lee, P. Duggal, R. Klein, E. L. Moore, J. E. Bailey-Wilson, B. E. Klein.

1565/A Genome-wide SNP linkage scan of schizophrenia in a large multicenter sample. D. F. Levinson, P. V. Gejman, C. Laurent, M. J. Owen, A. E. Pulver, B. Riley, D. B. Wildenauer, K. S. Kendler, J. Mallet, B. J. Mowry, G. Nestadt, M. C. O'Donovan, A. R. Sanders, S. G. Schwab, V. K. Lasseter, I. Nikolov, R. Segurado, P. A. Holmans, Schizophrenia Linkage Collaborative Group.

1566/B Linkage analysis using GeneChip Microarray maps a possible locus for Crohn's disease to chromosome 3p. N. Magal, R. Rahav, R. Shapiro, T. Shohat, M. Shohat.

1567/C QTL-ALL: software for QTL linkage analysis using score statistics and other new approaches. N. Mukhopadhyay, S. Bhattacharjee, C.-L. Kuo, D. E. Weeks, E. Feingold.

1568/A A Novel Form of Autosomal Recessive Lethal Congenital Arthrogryposis Mapped to Chromosome 19p13 Using SNP microarrays. G. Narkis, D. Landau, E. Manor, R. Ofir, K. Elbedour, O. S. Birk.

1569/B Using a murine model to identify genes important in pulmonary arterial hypertension (PAH). M. W. Pauciulo, L. Liu, W. A. Tuchfarber, P. T. Hale, T. Foroud, W. C. Nichols.

1570/C Sex-specific Linkage to Total Serum Immunoglobulin E in Families of Children with Asthma in Costa Rica. B. A. Raby, M. E. Soto-Quiros, L. Avila, S. L. Lake, C. Liang, E. Fournier, M. Spesny, J. S. Sylvia, R. Lazarus, A. Verner, T. J. Hudson, B. J. Klanderman, N. B. Freimer, E. K. Silverman, S. T. Weiss, J. C. Celedon.

1571/A Familial high myopia in a Polish population. M. Rydzanicz, A. Frajdenberg, M. Podfigurna-Musielak, S. M. Leal, K. Pecold, B. A. Bejjani, M. Gajecka.

1572/B Genetic Heterogeneity and Genetic Interaction study of Parkinson Disease in Seventy-Six Multiplex Tunisian Families. L. Warren, R. Gibson, L. Ishihara, S. Thomas, R. Amouri, N. Gouider-Khouja, M. Kefi, M. Zouari, S. Sassi, S. Yahmed, E. Euch-Fayeche, A. Roses, L. Middleton, F. Hentat.

1573/C Genomic Study of Human Complex Disorders Using Twins: design Options and Sample Size. F. Zhang, N. Whitehead, P. Levy, L. Corey, V. Vannappagari, P. Chulada, P. Blackshear.

1574/A A Genome-wide Scan for Quantitative Trait Loci Underlying Obesity -Related Variation in 434 Caucasian Families. L. Zhao, Y. J. Liu, P. Xiao, H. Shen, D. H. Xiong, Y. Z. Liu, R. Recker, H. W. Deng.

1575/B A Markov Chain Approach to Estimating Kinship Coefficients. K. L. Ayers, E. Sobel, K. Lange.

1576/C DFNB21 locus, the second cause of autosomal recessive nonsyndromic hearing loss in Iranian population. N. Bazazzadegan, N. Meyer, K. Kahrizi, M. Mohseni, P. Imani, S. Arzhangi, B. Azadeh, A. Daneshi, M. Farhadi, R. J. H. Smith, H. Najmabadi.

1577/A BRLMM: an improved genotyping calling method for Affymetrix® mapping arrays. S. Cawley, X. Di, E. Hubbell, S. Lincoln, M. Moorhead, W. Short, T. P. Speed, C. Sugnet, J. Veitch, T. Webster, A. Williams, G. Yang.

1578/B Genome-wide detection of human copy number variations using high density DNA oligonucleotide arrays. S. Ishikawa, K. Fitch, D. Komura, J. Hung, F. Shen, W. Chen, R. Mei, J. Zhang, G. Liu, K. Nishimura, H. Nakamura, S. Ihara, M. H. Shapero, K. W. Jones, H. Aburatani, Genome Structural Variation Consortium.

1579/C Pitfalls in Homozygosity Mapping - Revisited. G. Landoure, H. Stanescu, M. A. Knight, A. A. Taye, M. Arcos-Burgos, D. Pineda, W. A. Gahl, K. H. Fischbeck, R. Kleta.

1580/A GOLDsurfer2: a comprehensive tool for the analysis and visualization of whole genome association studies. F. Pettersson, A. P. Morris, P. S. Derwent, M. R. Barnes, L. R. Cardon.

1581/B Test Interaction between Two Unlinked Loci Using Composite Linkage Disequilibrium. X. Wu, L. Jin, M. Xiong.

1582/C A comparison of robust methods for QTL mapping in nuclear families. S. Bhattacharjee, C. Kuo, N. Mukhopadhyay, D. E. Weeks, E. Feingold.

1583/A A Score Test for Linkage Analysis of Ordinal Traits Based on IBD Sharing. R. Feng, H. Zhang.

1584/B Nonparametric linkage analysis incorporating unaffected siblings. A. G. Matthews, E. Feingold.

1585/C Analysis of Iranian patients with hearing loss For the second most prevalent locus DFNB4. M. Mohseni, K. Kahrizi, F. Azizi, C. Nishimura, N. Bazazzadegan, G. Asaadi Tehrani, M. Sayfati, M. Taghdiri, P. Jamali, A. Daneshi, R. J. H. Smith, H. Najmabadi.

1586/A The Chemokine (C-C-motif) receptor 3 (CCR3) Gene is Linked and Associated with Age at Menarche in Caucasian Females. F. Yang, D. H. Xiong, Y. Guo, H. Shen, P. Xiao, F. Zhang, H. W. Deng, * The first two authors contribute equally to this work.

1587/B A genomewide scan for genes involved in vesicoureteral reflux. D. E. Barton, H. Kelly, A. Yoneda, J. M. Darlow, D. Shields, C. Molony, A. J. Green, P. Puri.

1588/C Fine linkage mapping of a cognitive trait to chromosome 14. S. Buyske, M. E. Bates, N. Gharani, T. C. Matise, J. A. Tischfield, P. Manowitz.

1589/A Selecting SNPs for Association Studies with SNPbrowser™ Software. F. M. De La Vega, C. R. Scafe, H. Isaac.

1590/B Genome-wide linkage study in the NIMH Bipolar data sets of alcohol dependence and correlation with loci significant for psychosis. B. Kerner, D. L. Brugman, N. B. Freimer.

1591/C The effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer Disease. X. Liang, E. R. Martin, N. Schnetz-Boutaud, J. Bartlett, B. M. Anderson, S. Zuchner, H. Gwirtsman, D. Schmechel, R. Carney, J. Gilbert, M. A. Pericak-Vance, J. L. Haines.

1592/A A method for finding risk haplotypes using cases and their parents. M. Shi, D. M. Umbach, C. R. Weinberg.

1593/B Distant Relative Identical-By-Descent Mapping in Autism. S. Strom.

1594/C DNA repair gene polymorphisms and G2 chromosomal radiosensitivity. C. S. Wilding, G. B. Curwen, E. J. Tawn, X. Sheng, J. F. Winther, J. D. Boice, Jr., R. Chakraborty.

1595/A Genome-wide linkage scan for primary open angle glaucoma (POAG) loci in a Caucasian population. A. Woodroffe, C. M. Krafchak, M. Soehnlen, N. Fuse, P. R. Lichter, S. E. Moroi, R. Schertzer, C. A. Downs, M. Boehnke, J. E. Richards.

1596/B Enhanced linkage maps from family-based genetics studies. C. He, X. Kong, S. Buyske, D. E. Weeks, T. C. Matise.

1597/C Investigation of four MCPH loci (MCPH1, MCPH2, MCPH3, MCPH5) based on Homozygosity mapping in 30 families. S. Esmaeeli Nieh, S. S. Abedini, K. Kahrizi, F. Behjati, S. Ghasemi Firoozabadi, V. Hadavi, R. Vazifehmand, D. Habibi, M. Falah, A. W. Kuss, S. Banihashemi, H. H. Ropers, H. Najmabadi.

1598/A A copula approach to missing data in genetic association studies. G. M. D'Angelo, E. Feingold.

1599/B Autosomal dominant Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM, MPD2, 5q31): Refinement of the candidate interval and identification of a second VCPDM family. S. M. Garvey, J. Senderek, I. Tournev, C. Stendel, A. Urtizberea, V. Guergueltcheva, V. Mihailova, H. Feit, J. Weis, H. Lochmüller, J. S. Beckmann, E. Seboun, M. A. Hauser, C. E. Jackson.

Molecular Basis of Disorders with Complex Inheritance

1600/C C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase gene and elevation of transaminases in Mexican patients with rheumatoid arthritis treated with methotrexate. J. Mena, I. P. Dávalos, L. González, J. Gamez-Nava, L. Sandoval, L. E. Figuera, J. Sánchez, A. Celis-de la Rosa, M. Salazar-Páramo.

1601/A Mutational Screening of CDO using dHPLC in Holoprosencephaly (HPE) Patients. S. Domene, M. Ouspenskaia, E. Roessler, R. Krauss, M. Muenke.

1602/B Toward identification of molecular pathways in dyslexia and related disorders. J. Kere, M. Peyrard-Janvid, I. Tapia-Paez, H. Anthoni, N. Kaminen, S. Massinen, M. Zucchelli, H. Matsson, P. J. Lindsberg, E. Castren, K. Hannula-Jouppi.

1603/C Genetic evaluation of the serotonergic system in Chronic Fatigue Syndrome. A. K. Smith, M. S. Rajeevan.

1604/A Association of 5' region polymorphic markers of the Fibrillin-1 gene with systemic sclerosis and related pulmonary fibrosis in caucasian european patients. Y. Allanore, J. Wipff, M. Giraud, H. J. Garchon, A. Kahan, C. Boileau.

1605/B Association Analysis of CTLA4 Polymorphisms in Mexican Population with Childhood-Onset Systemic Lupus Erythematosus. G. Salas, V. Baca, R. Velazquez, F. Espinoza, S. Jimenez, G. Jimenez, L. Orozco.

1606/C The CHRNA5/A3/B4 gene cluster variability as an important determinant of alcohol and tobacco initiation in young adults. I. Schlaepfer, A. Collins, R. Corley, T. Crowley, J. Hewitt, C. Hopfer, K. Krauter, J. Lessem, S. Rhee, M. Stallings, S. Young, J. Zeiger, M. Ehringer.

1607/A Association between an endoglin gene polymorphism and systemic sclerosis related pulmonary arterial hypertension. J. Wipff, A. Kahan, E. Hachulla, J. Cabane, O. Meyer, L. Mouthon, L. Guillevin, C. Boileau, Y. Allanore.

1608/B A study of common SNP variation around 10 genes in the SREBP and HMG CoA reductase pathway and a testing of their association with BMI in a Caucasian case control panel. E. K. Speliotes, H. Lyon, J. L. Butler, J. A. Drake, J. Nemesh, M. J. Daly, D. Altshuler, S. Purcell, J. N. Hirschhorn.

1609/C Localization of psoriasis susceptibility gene PSORS4 to the LEP/SPRR cluster of genes within the epidermal differentiation complex (EDC) on chromosome 1q21. C. Helms, J. Robarge, K. Gold, S. Duan, R. Donaldson, P. Stuart, R. Nair, J. Elder, A. Bowcock.

1610/A Expression analysis of the IRF6 gene in placental tissue. F. Rahimov, J. C. Murray.

1611/B Beta adrenergic receptor (ADRB2) SNP and lung function in preschool children. J. Hankinson, L. Lowe, S. John, A. Custovic, A. Woodcock, W. Ollier, A. Simpson.

1612/C Association study between asthma and candidate genes identified by microarrays. K. Tremblay, M. Lemire, A. Montpetit, D. Daley, A. J. Sandford, P. D. Paré, T. J. Hudson, C. Laprise.

1613/A G72/G30 transgenic mice and gene expression profiling. L. Cheng, E. Hattori, A. Nakajima, Y. Tang, E. Gershon, C. Liu.

1614/B Glutathione-S-Transferase M1, T1, and P1 polymorphisms in childhood asthma from the INMA study: assessing the effects of passive smoking on allergy and wheeze. F. Castro-Giner, M. Àlvarez, M. Torrent, J. Sunyer, X. Estivill, R. de Cid on behalf of the INMA Study Group.

1615/C Fine-mapping of INSIG2 variation associated with obesity. H. Lyon, J. Butler, T. Bersaglieri, E. Speliotes, X. Zhu, R. Cooper, J. Hirschhorn.

1616/A Analysis of Genes Affecting Susceptibility to Systemic Lupus Erythematosus. T. Tahira, T. Horiuchi, D. Sakaguchi, M. Yamai, H. Miyagawa, H. Tsukamoto, K. Hayashi.

1617/B Association Study of Reading Disabilities and Genes in the Chromosome 15q21.3 region. K. Wigg, J. Couto, Y. Feng, B. Anderson, T. Cate-Carter, R. Tannock, M. Lovett, T. Humphries, C. L. Barr.

1618/C Mutational analysis of mitochondrial tRNALeu(UUR) gene in 740 Chinese subjects with type 2 diabetes. J. Lu, D. Wang, W.-L. Wei, J. Ji, W. Ye, J. Zhao, R. Li, M. Guan.

1619/A Factor D Deficient Mice as Model of Mesangial Immune Complex Glomerulonephritis. M. A. Abrera-Abeleda, Y. Xu, M. C. Pickering, R. J. H. Smith, S. Sethi.

1620/B CGH-array study of 40 holoprosencephaly patients: the observed large scale quantitative alterations continuum is not correlated with phenotypic severity. C. Bendavid, C. Dubourg, S. Le Gallou, I. Gicquel, L. Pasquier, M. R. Durou, C. Henry, S. Odent, V. David.

1621/C Neonatal RDS and Polymorphisms in the Corticosteroid Metabolism Pathway. K. S. Borowski, J. M. Dagle, J. C. Murray.

1622/A Asthma and genes encoding components of the vitamin D pathway. Y. Bosse, C. Laprise, M. Lemire, J. H. White, T. J. Hudson.

1623/B Analysis of Transforming Growth Factor b3 gene (TGFB3) in Pierre Robin Sequence patients. D. Bueno, L. D. Lopes, C. E. R. Amaral, M. R. Passos-Bueno.

1624/C Identification of candidate genes specific to asthma and atopy using microarray data. A. Chamberland, J. Chakir, M.-C. Bernier, M. Laviolette, C. Laprise.

1625/A CRISPLD2 and Nonsyndromic Cleft Lip with or without Cleft Palate. B. T. Chiquet, S. H. Blanton, S. Stal, J. B. Mulliken, J. T. Hecht.

1626/B Association of Polymorphisms in S-nitroso-glutathione Reductase with Asthma. S. Choudhry, L. Liu, L. G. Que, C. Eng, S. Nazario, J. Casal, A. Torres, I. Gomez, J. K. Fagan, J. Salas, R. Chapela, J. G. Ford, P. C. Avila, W. Rodriguez-Cintron, E. G. Burchard.

1627/C Analysis of Polymorphisms in Complement Factor H (CFH) and Hypothetical LOC387715 in Mexican Mestizos with Advanced Age-related Macular Degeneration. A. Contreras, I. Silva-Zolezzi, A. Hidalgo, A. Inchaustegui, R. A. Cano Hidalgo, J. C. Zenteno Ruiz, R. Ayala Ramirez, H. Perez-Cano, S. March, E. Graue, G. Jimenez-Sanchez.

1628/A Association of PON2 variants with PON activity in systemic lupus erythematosus (SLE). S. Dasgupta, F. Y. Demirci, R. L. Minster, M. Kenney, P. Shaw, A. Kao, C. Kammerer, F. Bontempo, S. Manzi, M. I. Kamboh.

1629/B Ameloblastin (AMBN) is Associated with Low Caries Experience. K. Deeley, E. K. Rose, C. A. Brandon, J. M. Resick, S. Wendell, M. L. Marazita, A. R. Vieira.

1630/C Association of a common interferon regulatory factor 5 (IRF5) variant with increased risk of systemic lupus erythematosus (SLE). F. Y. Demirci, S. Manzi, R. L. Minster, F. Bontempo, P. S. Shaw, A. H. Kao, M. I. Kamboh.

1631/A An association study of CD74 and Metallothioneins in multiple sclerosis. K. Duvefelt, M. Swanberg, C. M. Lindgren, O. Lidman, T. Olsson, H. Harbo, J. Saarela, A. Oturai, J. Hillert.

1632/B The Role of Protein Tyrosine Phosphatase 1 Beta (PTP1B) Sequence Variants in Obesity and the Metabolic Syndrome. J. Eckert, T. Wang, J. Kim, A. Kissebah, M. Olivier.

1633/C Islet-specific glucose-6-phosphate catalytic subunit-related protein (IGRP) is a candidate gene for plasma glucose. D. Fradin, F. Letourneur, P. Bougneres.

1634/A Testing for association between type 2 diabetes and 225 candidate genes in 2357 Finnish cases and controls. K. J. Gaulton, K. N. Conneely, Y. Li, A. U. Jackson, L. J. Scott, W. L. Duren, P. S. Chines, N. Narisu, L. Bonnycastle, A. Swift, T. T. Valle, J. Tuomilehto, R. N. Bergman, F. S. Collins, M. Boehnke, K. L. Mohlke.

1635/B Molecular analysis of the CYP1B1 gene from FTA® cards in primary congenital glaucoma in European patients. F. Gerson, O. Herbert, J. P. Moisan.

1636/C Association of toll-like receptor polymorphisms and pulmonary tuberculosis. C. D. Hamilton, W. F. Hulme, J. B. Rimmler, S. G. Patillo, A. W. Mosher, M. E. Stryjewski, E. H. Abbate, R. Estevan, J. R. Gilbert, W. K. Scott.

1637/A Association of Eukaryotic Translation Initiation Factor 2-alpha Kinase 3(EIF2AK3/PERK) with Bone Mineral Density in the Old Order Amish. N. Hoppman, E. A. Streeten, A. R. Shuldiner, J. R. O'Connell, B. D. Mitchell, D. J. McBride.

1638/B Association of -308A Allele of Tumor Necrosis Factor Gene (TNF?) with Asthma in Mexican Pediatric Patients. S. Jiménez-Morales, F. Cuevas, Y. Saldaña, J. Ramírez, L. Orozco.

1639/C Genetic Variations in the TORC2 Gene Are Not Associated with Type 2 Diabetes in Japanese. P. Keshavarz, H. Inoue, M. Itakura.

1640/A Molecular Genetics of Primary-Angle Closure Glaucoma in a Chinese family Molecular Genetics of Primary-Angle Closure Glaucoma in a Chinese family. H. Li, X. H. Dai, J. Y. Liu, M. G. Liu, Q. Wang.

1641/B Phenotypic characterization of alveolar macrophages from atopic asthmatic subjects. A.-M. Madore, V. Turmel, M. Laviolette, E. Bissonnette, C. Laprise.

1642/C Association of the IL18 gene with celiac disease in the Irish population. R. McManus, K. Brophy, A. Ryan, C. Feighery, C. O'Morain, N. Kennedy, R. McLoughlin, F. Stevens, D. Kelleher.

1643/A Evidence for FOXE1 Having an Etiologic Role in Nonsyndromic Cleft Lip With or Without Cleft Palate (CL/P). L. M. Moreno, S. A. Bullard, J. Martin, M. A. Mansilla, M. Johnson, M. Arcos-Burgos, H. Mishima, B. S. Maher, T. H. Goldstein McHenry, M. E. Cooper, C. Valencia-Ramirez, A. Hing, E. J. Lammer, M. Jones, A. Jugessur, N. H. Robin, P. Chines, J. C. Murray, M. L. Marazita, A. C. Lidral.

1644/B A variant in CDKN2a is associated with physical function in older people. A. Murray, T. M. Frayling, A. J. Hurst, L. W. Harries, H. Song, K. T. Khaw, R. Luben, P. G. Surtees, S. Bandinelli, A. M. Corsi, L. Ferrucci, J. M. Guralnik, R. B. Wallace, A. T. Hattersley, P. D. Pharoah, D. Melzer.

1645/C A Single Nucleotide Polymorphism in the COX2 gene is significantly associated with prostate cancer in men of European Ancestry. P. Pal, H. Xi, R. Kaushal, G. Sun, J. Mallik, B. K. Suarez, W. J. Catalona, R. Deka.

1646/A Genetics of obesity and its dietary interactions. L. Perusse.

1647/B Investigation of the TNF receptor-associated factor (TRAF) genes with rheumatoid arthritis. C. Potter, J. Worthington, A. Barton.

1648/C Association Study of RANTES Polymorphisms in Childhood-Onset Systemic Lupus Erythematosus and Juvenile Rheumatoid Arthritis in Mexican Population. J. Ramirez, V. Baca, R. Velazquez, M. Morales, F. Espinosa, L. Orozco.

1649/A Genomic convergence to prioritize candidate genes for primary open-angle glaucoma. V. Raymond, N. Boivin, P. Belleau, E. Deilhes, A. Marquis, R. Arseneault, J. St-Amand, E. Calvo, M. A. Rodrigue, J. L. Anctil.

1650/B Human genetic association study of 232 osteoarthritis candidate genes in patients with radiographically confirmed knee OA. J. Richmond, L. Wood, K. Durham, S. Yocum, D. Aguiar, A. Seymour.

1651/C Polymorphisms in the PDCD1 are associated with childhood-onset Systemic Lupus Erythematosus in Mexican population. Y. Saldaña, V. Baca, R. Velazquez, F. Espinosa-Rosales, M. Morales-Marin, S. Jimenez-Morales, G. Jimenez-Sanchez, L. Orozco.

1652/A Polymorphisms in the PTPN22 region are associated with psoriasis of early onset. R. L. l. Smith, R. B. Warren, S. Eyre, H. S. Young, C. E. M. Griffiths, J. Worthington.

1653/B Identification of Novel Asthma Susceptibility Loci Using a Family-Based Screening Approach. K. G. Tantisira, A. Murphy, A. A. Litonjua, J. Lasky-Su, B. A. Raby, R. Lazarus, B. Klanderman, E. K. Silverman, C. Lange, S. T. Weiss.

1654/C Chronic renal insufficiency among South Indians with Type 2 diabetes mellitus: role of oxidative stress pathway genes. B. K. Thelma, A. K. Tiwari, P. Prasad, K. M. Prasanna Kumar, A. C. Ammini, A. Gupta, R. Gupta.

1655/A Association of a functional SNP in the Interferon Regulatory Factor 5 (IRF5) Gene with Childhood-onset Systemic Lupus Erythematosus in Mexican Population. R. Velazquez, V. Baca, F. Espinosa-Rosales, M. Morales-Marin, G. Jimenez-Sanchez, L. Orozco.

1656/B The polymorphism of INSIG2 is associated with fatty liver, hypertriglyceridemia and insulin resistance in type 2 diabetes. M. Zenibayashi, Y. Hirota, K. Miyake, T. Teranishi, K. Kouyama, K. Sakaguchi, T. Ohara, M. Kasuga.

1657/C CFH and LOC387715 genes and susceptibility to Age-Related Maculopathay: AREDS cohort and a meta-analysis. Y. Conley, J. Jakobsdottir, T. Mah, D. Weeks, R. Ferrell, M. Gorin.

1658/A A high density admixture scan in 1,670 African Americans with hypertension and 387 normotensive controls. R. Deo, N. Patterson, A. Tandon, G. McDonald, C. Haiman, K. Ardlie, B. Henderson, S. Henderson, D. Reich.

1659/B Myocilin and Optineurin Sequence Variants in Primary Open Angle Glaucoma in a Hispanic Population of Mexican Descent. K. LaRocque-Abramson, X. Yin, C. Santiago-Turla, A. Ventura-Viray, L. Ramirez, M. Alvarez, A. Beltran, M. Pericak-Vance, M. Hauser, R. R. Allingham.

1660/C KDR gene polymorphism is associated with coronary artery lesions in Kawasaki disease. I. S. Park, E. J. Seo, J. K. Lee, K. J. Kim, J. J. Kim, S. J. Hong, Y. H. Kim, J. G. Ko.

1661/A Locus homogeneity in Glomuvenous Malformation. P. Brouillard, L. M. Boon, O. Enjolras, J. B. Mulliken, M. Vikkula.

1662/B Extended family relationships in idiopathic adolescent scoliosis pedigrees: a founder effect. M. C. Meade, L. M. Nelson, V. Argyle, T. Berry, S. Murphy, J. Braun, J. W. Ogilvie, K. Ward.

1663/C Genetic analysis of large four generation families with idiopathic adolescent scoliosis. K. Ward, M. C. Meade, L. M. Nelson, V. Argyle, T. Berry, S. Murphy, J. Braun, J. W. Ogilvie.

1664/A Genomewide Study of Isolated Cleft Palate Only (CPO) Using the 50K Affymetrix SNP Chips. M. Ghassibe, B. Bayet, N. Revencu, Ch. Verellen-Dumoulin, Y. Gillerot, R. Vanwijck, M. Vikkula.

1665/B Lack of genotypic effect of polymorphism in C-Reactive protein gene on serum CRP level in a Japanese rheumatoid arthritis cohort. K. Ikari, S. Momohara, E. Inoue, M. Hara, T. Tomatsu, H. Yamanaka, Y. Kawaguchi, N. Kamatani.

1666/C Linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate in the Italian population. P. Carinci, L. Scapoli, A. Palmieri, M. Martinelli, F. Pezzetti, F. Carinci.

1667/A Exploring cryptic genomic aberrations responsible for multiple congenital anomaly with mental retardation using in-house CGH-arrays. S. Hayashi, S. Shozo, I. Imoto, J. Inazawa.

1668/B Mendelian Randomization using ApolipoproteinAV and lipoprotein lipase genotypes provides no evidence that increased plasma triglyceride concentrations are causally associated with insulin resistance. T. M. Frayling, K. J. Ward, M. S. Sandhu, M. N. Weedon, R. Harbord, B. Shields, B. Knight, J. Luan, Y. Ben-Shlomo, A. Jeffrey, T. Wilkin, S. Ebrahim, N. Timpson, D. Lawlor, G. Davey-Smith, N. Wareham, A. T. Hattersley.

1669/C Whole Genome Association Studies at the NCBI. M. D. Mailman, Y. Jin, Z. Wang, R. Bagoutdinov, L. Phan, J. D. Beck, A. Graeff, K. Sirotkin, D. R. Maglott, S. T. Sherry, J. Ostell.

1670/A Modulation of genetic susceptibility by behavioral factors and glucose regulation status in the general population exemplified by the impact of the APOA5 -1131T>C variant on serum lipids. G. Andersen, T. Sparsø, S. I. Castella, A. Albrechtsen, C. Glümer, K. Borch-Johnsen, T. Jørgensen, T. Hansen, O. Pedersen.

1671/B A Genome-Wide Study for Determinants of Type 2 Diabetes Mellitus in the Pima Indians. L. Baier, R. Hanson, W. Knowler, C. Bogardus.

1672/C Genetic modifiers of cystic fibrosis-related diabetes. S. M. Blackman, S. Hsu, K. Naughton, B. Coleman, T. Lai, A. Bowers, D. J. Cutler, G. R. Cutting.

1673/A The P2 Promoter of Hepatocyte Nuclear Factor-4 alpha Gene is Associated with Type 2 Diabetes, the AADM Study. Y. Chen, G. Chen, J. Zhou, A. Doumatey, H. Huang, A. Adeyemo, G. Dunston, F. S. Collins, C. Rotimi.

1674/B Polymorphisms in the Activating Transcription factor 6 (ATF6), a candidate gene, are associated with Type 2 Diabetes (T2DM) in Utah Caucasians. W. S. Chu, S. K. Das, S. C. Elbein, International Type 2 Diabetes Chromosome 1q Consortium.

1675/C TCF7L2 polymorphisms are associated with type 2 diabetes (T2DM) and reduced insulin sensitivity in U.S. Caucasians. S. K. Das, W. S. Chu, S. C. Elbein.

1676/A Genomewide analysis of gene expression in transformed lymphocytes from sib pairs discordant for type 2 diabetes (T2DM). S. C. Elbein, W. S. Chu, S. K. Das.

1677/B Evidence for a susceptibility gene for type 2 diabetes on chromosome 11. M. R. Erdos, H. M. Stringham, P. S. Chines, N. Narisu, A. U. Jackson, W. L. Duren, L. L. Bonnycastle, C. J. Willer, L. J. Scott, K. F. Doheny, E. W. Pugh, N. L. Riebow, T. T. Valle, R. M. Watanabe, T. A. Buchanan, R. N. Bergman, J. Tuomilehto, K. L. Mohlke, M. Boehnke, F. S. Collins.

1678/C Evidence of Association between Polymorphism on UCPs and Type 2 Diabetes in a Northwestern Population from Colombia. L. Franco, C. Duque, N. Gallego, F. Uribe, A. Villegas, G. Bedoya, A. Ruiz-Linares.

1679/A Evaluation of the aryl hydrocarbon receptor nuclear translocator (ARNT) gene on 1q21 as a type 2 diabetes (T2DM) susceptibility gene in the Old Order Amish. M. Fu, C. Damcott, M. Sabra, S. Ott, X. Shi, A. C. Naj, L. Reinhart, J. Gunton, T. Pollin, J. O'Connell, B. D. Mitchell, C. R. Kahn, A. R. Shuldiner.

1680/B Association analyses of common SNPs in TCF7L2 with type 2 diabetes covariates, gender, age of onset and BMI, and the interaction with other diabetes risk alleles. L. Gianniny, R. Saxena, N. Burtt, V. Lyssenko, C. Giuducci, M. Sjögren, J. C. Florez, P. Almgren, B. Isomaa, M. Orho-Melander, U. Lindblad, M. J. Daly, T. Tuomi, J. N. Hirschhorn, K. Ardlie, L. Groop, D. Altshuler.

1681/C Variants in TCF7L2 are Associated with Predictors of Type 2 Diabetes Mellitus in Pima Indians. T. Guo, Y. Muller, M. Traurig, J. Mack, L. Ma, R. Hanson, S. Kobes, C. Bogardus, L. Baier.

1682/A Genotyping of Common Variants Near the HNF4A Locus in a Norwegian Population-Based Sample of 1850 Diabetes Cases and 1879 Controls. S. Johansson, H. Raeder, S. A. Eide, K. Midthjell, O. Søvik, A. Molven, P. R. Njolstad.

1683/B Decreased expression of Abcg5/Abcg8 is associated with increased tissue incorporation of dietary plant sterols and stanols in diabetic BB rats. K. A. Scoggan, H. Gruber, L. J. Plouffe, J. M. Lefebvre, H. Rocheleau, B. Wang, J. Bertinato, M. R. L'Abbé, W. N. M. Ratnayake.

1684/C Association of vitamin D receptor haplotypes with early onset type 1 diabetes in Newfoundland. K. S. Wang, M. Liu, B. Bharaj, H. T. Chen, J. A. Curtis, L. A. Newhook, A. D. Paterson.

1685/A Genetic variation in the endothelin converting enzyme-like 1 gene is associated with type 2 diabetes (T2DM) in the Old Order Amish. Y. Wang, X. Shi, P. F. McArdle, C. M. Damcott, Y. C. Chang, A. R. Shuldiner, B. D. Mitchell, N. I. Steinle.

1686/B Variant of transcription factor 7-like 2 gene and the risk of type 2 diabetes mellitus in large cohorts of U.S. women and men. C. Zhang, L. Qi, D. J. Hunter, J. B. Meigs, J. E. Manson, R. M. Van Dam, F. B. Hu.

1687/C Human TRIM5a Polymorphisms and Haplotypes are Associated with Susceptibility to Human Immunodeficiency Virus Infection. P. An, G. W. Nelson, G. D. Kirk, R. Detels, S. Buchbinder, S. Donfield, J. J. Goedert, J. Sodroski, S. J. O'Brien, C. A. Winkler.

1688/A Association analysis of RAGE and BTNL2 genes with sarcoidosis in the Italian population. C. Bombieri, I. Campo, M. Zorzetto, I. Ferrarotti, P. F. Pignatti, M. Luisetti.

1689/B Association between iNOS and Age-related Macular Degeneration: Potential effect modification by cigarette smoking. G. E. Byfield, S. Schmidt, P. Gallins, E. A. Postel, W. K. Scott, A. Agarwal, K. Spencer, J. L. Haines, M. A. Pericak-Vance, M. A. Hauser.

1690/C Localization of a Prostate Cancer Predisposition Gene to a 416,515 bp Region on Chromosome Xq28 in Utah High-Risk Pedigrees. L. A. Cannon-Albright, J. M. Farnham, N. J. Camp.

1691/A High density SNP screening of the major histocompatibility complex in systemic lupus erythematosus. L. A. Criswell, S. L. Clark, P. P. Ramsay, M. F. Seldin, L. F. Barcellos.

1692/B Association of systemic lupus and lupus glomerulonephritis and copy number variation in FCGR3B: a follow-up study. M. Fanciulli, E. Petretto, P. Norsworthy, M. K. Kumaran, T. Cook, T. Vyse, T. Aitman.

1693/C Unraveling the genetic etiology of stroke in Pakistan. P. M. Frossard, D. Saleheen.

1694/A X-chromosome inactivation patterns in multiple sclerosis: a twin study. B. M. Herrera, K. M. E. Morrison, S. V. Ramagopalan, M. R. Lincoln, S. Orton, M. J. Chao, M. Z. Cader, G. C. Ebers.

1695/B Whole genome association study of chronic inflammatory arthritis. S. John, A. Hinks, N. Shephard, M. Cargill, Y. Turpaz, E. Wang, A. Barton, S. Eyre, W. Thomson, J. Worthington, G. Kennedy.

1696/C Association of IL4R gene polymorphisms with asthma in Chinese population. X. Kong, H. Zhang, Q. Zhang, L. Wang, H. Chen, Y. Li, T. Cui, W. Huang, L. Zhang, F. Yan, L. Wang, Y. Xu, L. Hu.

1697/A Possible role of the TNFRSF4 gene in the pathogenesis of women's essential hypertension. Y. Mashimo, Y. Suzuki, K. Hatori, Y. Tabara, T. Miki, K. Tokunaga, A. Hata.

1698/B Genome-wide association study of human narcolepsy using 500,000 SNPs. T. Miyagawa, M. Kawashima, N. Nishida, J. Ohashi, R. Kimura, A. Fujimoto, M. Honda, Y. Honda, K. Tokunaga.

1699/C A sequence variation of the Myelin Oligodendrocyte Glycoprotein (MOG) gene in the HLA-Class I region is involved in susceptibility to Multiple Sclerosis (MS). P. Momigliano-Richiardi, N. Barizzone, F. Guerini, P. Naldi, S. Calzoni, M. Trojano, S. D'Alfonso.

1700/A Identification of a SNP haplotype of the PON1 gene associated with acute rejection in kidney allografts using a custom SNP chip. W. S. Oetting, S. Basu, M. J. Brott, A. J. Matas.

1701/B Susceptibility genes for childhood and adult asthma. Y. Suzuki, Y. Mashimo, H. Inoue, K. Hatori, A. Hata, T. Hirota, F. Kamada, Y. Matsubara, M. Tamari.

1702/C Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. K. Yamazaki, D. McGovern, J. Ragoussis, M. Paolucci, H. Butler, D. Jewell, L. Cardon, M. Takazoe, S. Saito, A. Iida, A. Takahashi, T. Tsunoda, M. Lathrop, Y. Nakamura, A. Hata.

1703/A Is Ménière’s disease associated with polymorphisms in KCNE1 or KCNE3 in the United States? C.-A. Campbell, C. C. Della Santina, N. B. Smith, J. P. Carey, L. B. Minor, R. J. H. Smith.

1704/B European mitochondrial haplogroups exhibit differential risk of developing presbycusis. S. Ramon, A. C. Braganza, F. M. Mapes, S. T. Frisina, R. D. Frisina, D. R. Frisina, D. A. Eddins, D. L. Newman.

1705/C A High Density Linkage Screen for POAG: Evidence for Different Loci by Race. R. R. Allingham, J. L. Wiggs, F. L. Graham, K. R. LaRocque-Abramson, C. Santiago-Turla, A. Ventura-Viray, J. L. Haines, M. A. Pericak-Vance, M. A. Hauser.

1706/A Evidence of a Hyperhidrosis Risk Gene at 5q11.2. R. M. Cantor-Chiu, F. Chandra, N. Dorrani, C. Swartling, D. Glaser, S. Ahn.

1707/B Linkage and association study of MYO9B variants in Finnish and Hungarian populations supports the role of CELIAC4 locus (19p13) in celiac disease. L. Koskinen, K. Viiri, I. Korponay-Szabo, K. Mustalahti, K. Kurppa, K. Kaukinen, C. Wijmenga, J. Kere, M. Mäki, J. Partanen, P. Holopainen.

1708/C Co-occurring asthma and externalizing symptoms: Genetic and environmental influences by child gender and reporter. R. P. Goin-Kochel, J. L. Silberg, L. J. Eaves.

1709/A Strong genetic evidence for DYX1C1 as a susceptibility factor for dyslexia. M. Zucchelli, F. Dahdouh, H. Anthoni, M. Peyrard-Janvid, I. Tapia Paez, J. Schumacher, G. Schulte-Körne, J. Kere, M. M. Nöthen.

1710/B Higher prevalence of Hirschsprung disease in China explained by a common RET mutation. M. Garcia-Barcelo, J. Amiel, G. Antinolo, S. Borrego, G. Burzynski, I. Ceccherini, E. Emison, C. Eng, R. Fernandez, P. Griseri, R. Hofstra, C. Kashuk, F. Lantieri, S. Lyonnet, X. Miao, P. Tam, A. Tullio-Pelet, K. West, A. Chakravarti.

1711/C Genetic variation in myosin IXB is associated with ulcerative colitis. K. A. Hunt, A. A. van Bodegraven, C. R. Curley, A. J. Monsuur, R. J. Playford, C. G. Mathew, C. Wijmenga, J. D. Rioux, D. A. van Heel, M. J. Daly.

1712/A CARD8 is associated with Crohn's disease in the Puerto Rico population. L. Mei, E. A. Torres, Y. Picornell, X. Su, F. Gregory, R. Mera, P. J. Nieves, D. Dutridge, K. Taylor, H. Yang, J. I. Rotter.

1713/B Genetic and acquired factors for ossification of the posterior longitudinal ligament of the spines in Japan: a case-control study. G. Kobashi, K. Ohta, A. Hata, M. Washio, K. Okamoto, Japan OPLL Epidemiological Study Group.

1714/C Comparative Mouse Genomics Centers Consortium (CMGCC): improved understanding of the biological significance of environmentally-responsive human polymorphisms. K. A. McAllister, F. L. Tyson, E. Maull, G. Collman, CMGCC Steering Committee.

1715/A Influence of b2-adrenergic receptor (ADRB2) haplotypes on obesity-related traits and interaction with physical activity in adolescent Caucasians. C. N. Moran, M. E. S. Bailey, A. Tsiokanos, A. Z. Jamurtas, Y. P. Pitsiladis, R. H. Wilson.

1716/B A confoundings of candidate single nucleotide polymorphisms for pregnancy-induced hypertention in Japan. K. Ohta, G. Kobashi, H. Yamada, A. Hata, H. Minakami, S. Fujimoto, K. Kondo, Hokkaido PIH Epidemiological Study Group.

1717/C Evidence for Association of the KIAA0319-Like (KIAA0319L) gene on Chromosome 1p to Reading Disabilities. C. L. Barr, J. M. Couto, L. Gomez, K. Wigg, T. Cate-Carter, J. Archibald, B. Anderson, R. Tannock, M. Lovett, T. Humphries.

1718/A LOC387715 is associated with increased risk of neovascular age-related macular degeneration in the Utah population. Z. Yang, Z. Tong, Y. Zhao, A. Praggastis, E. Brinton, J. Baird, Y. Chen, D. J. Cameron, E. Pearson, P. S. Bernstein, G. Brinton, C. Wang, K. Howes, N. J. Camp, K. Zhang.

1719/B Plasma obestatin and ghrelin levels in subjects with Prader-Willi syndrome. M. G. Butler, D. C. Bittel.

1720/C Association of the FCRL3 gene with rheumatoid arthritis: a further example of population specificity of disease loci? A. Barton, S. Eyre, J. Worthington.

1721/A Urinary 1-hydroxypyrene: a biomarker for the effects of genetic polymorphisms on the metabolism of PAHs following different degrees of exposure. B. Chen, M. Shao, Y. Hu, L. Zheng, Q. Wang, H. Liu, Y. Liu, T. Jin, D. Lu.

1722/B Genetic variation in the paraoxonase 3 (PON3) gene is associated with serum PON activity. D. K. Sanghera, S. Manzi, P. Shaw, A. Kao, F. Bontempo, C. Kammerer, M. I. Kamboh.

1723/C Identifying the major genetic contribution of complex diseases using pooling-based genome-wide SNP association studies. D. Craig, J. Pearson, M. Huentelman, R. Halperin, W. Tembe, V. Zisman, K. Coon, J. Webster, E. Reiman, D. Stephan.

1724/A A genetic network in age-related macular degeneration. R. J. Klein, M. Othman, J.-Y. Tsai, S. Zareparsi, M. Campos, P. Atmaca-Sonmez, K. H. Branham, A. DeWan, A. K. Henning, E. Y. Chew, F. L. Ferris, H. Grossniklaus, G. Abecasis, C. Barnstable, A. Swaroop, J. Hoh.

1725/B The PTPN22 gene and type 1 diabetes in children. Y. J. Lee, C. Y. Huang, S. G. Shu, F. S. Lo, C. L. Lin, C. K. Chen, Z. C. Wang, H. F. Liu, C. C. Chu, M. Lin, F, Y. Huang.

1726/C Genome-wide association analyses for Metabolic Syndrome on the Micronesian island of Kosrae. J. K. Lowe, I. Pe'er, J. Salit, M. L. Blundell, M. L. Sullivan, H. E. Lee, R. Tewhey, A. Havens, W. Ji, J.-N. Foo, L. Garcia, P. E. Bonnen, N. P. Burtt, K. W. Jones, R. P. Lifton, J. L. Breslow, M. J. Daly, J. M. Friedman, D. M. Altshuler, M. Stoffel.

1727/A Genetics of gene expression for Amyotrophic Lateral Sclerosis (ALS). R. A. Ophoff, C.-Y. Lee, C. G. J. Saris, P. van Vught, S. Horvath, L. H. van den Berg.

1728/B A Novel Method for Integrating SNP and Microarray Data with an Application to Chronic Fatigue Syndrome. A. Presson, E. Sobel, J. Papp, A. Lusis, S. Horvath.

1729/C Association of genetic variations in the G-CSF gene with lung function decline and cross-sectional levels in smoking induced COPD. J. He, K. Shumansky, J. E. Connett, N. R. Anthonisen, P. D. Paré, A. J. Sandford.

1730/A A Study on the correlation between ER-alpha gene polymorphism and Osteoporosis in Iranian women. F. Pouresmaeili, A. Roohi, M. J. Tehrani, E. Azargashb, J. Ghasemi, T. Khalili, S. Samangooee, B. Kazemi, M. Akhoondi, Romatology Department of Loghman Hospital.

1731/B Effect of APOH promoter SNPs on gene expression and plasma levels of APOH. S. Suresh, R. L. Minster, F. Y. Demirci, M. Kenney, P. Shaw, A. Kao, C. Kammerer, F. Bontempo, S. Manzi, M. I. Kamboh.

1732/C Variation in the Human Matrix Metalloproteinase-9 (MMP-9) Gene is Associated with Arterial Stiffness in Healthy Individuals. Y. Yasmin, C. M. McEniery, K. M. O'Shaughnessy, P. Harnett, A. Arshad, S. Wallace, K. Maki-Petaja, B. McDonnell, M. J. Ashby, J. Brown, J. R. Cockcroft, I. B. Wilkinson.

1733/A Alternative Complement Pathway Genes Strongly Associate with Age Related Macular Degeneration (AMD). B. Gold, L. S. Hancox, J. E. Merriam, J. Bergeron, A. J. Taiber, J. Zernant, A. K. Olsh, G. R. Barile, L. I. Hardisty, K. Cramer, J. Neel, R. T. Smith, J. D. Borchardt, G. S. Hageman, R. Allikmets, M. Dean.

1734/B Confirmation of Protective Haplotypes Spanning the CFH Gene in Age-related Macular Degeneration. J. L. Haines, K. Spencer, L. M. Olson, M. A. Hauser, S. Schmidt, W. K. Scott, P. Gallins, N. Schnetz-Boutaud, A. Agarwal, E. A. Postel, M. A. Pericak-Vance.

1735/C Angiotensinogen gene polymorphism predicts blood pressure response to an angiotensin converting enzyme inhibitors therapy. X. Su, L. Lee, X. Li, J. Lu, Y. Hu, S. Zhan, W. Cao, L. Mei, Y. M. Tang, R. Krauss, J. Rotter, H. Yang.

1736/A Genetic basis of Hirschsprung disease in Down syndrome. S. Arnold, A. Chakravarti.

1737/B Testing a genomewide panel of nonsynonymous SNPs for association to multiple common disease phenotypes. P. Deloukas for the Wellcome Trust Case-Control Consortium.

1738/C The BCL2 gene and etiology of autoimmune disease. K. Gendall, C. Guja, A. Colgan, R. Rodger, M. Merriman, P. Chapman, E. Gale, K. Gillespie, P. Gow, A. Harrison, J. Highton, P. Jones, J. O'Donnell, S. Pearce, D. Smyth, J. A. Todd, T. Merriman.

1739/A Analysis of the C-reactive protein gene in sibling pairs extremely discordant for neovascular age-related macular degeneration. I. K. Kim, F. Ji, S. Adams, A. Capone, J. W. Miller, J. Ott, T. P. Dryja, M. M. DeAngelis.

1740/B Association of Innate Immune Response Candidate Genes in Primary Sjögren's Syndrome. D. C. Patel, P. S. Ramos, S. M. Rao, E. S. Emamian, L. M. Tobon, T. W. Behrens, P. M. Gaffney, A. J. W. Huang, N. L. Rhodus, B. Segal, K. L. Moser.

1741/C Evidence for Association of Interferon Regulatory Factor 2 (IRF2) with Systemic Lupus Erythematosus (SLE). P. S. Ramos, R. R. Graham, S. M. Rao, C. D. Gillett, W. A. Ortmann, K. J. Espe, R. C. Ferreira, T. W. Behrens, K. L. Moser.

1742/A Preferential X chromosome loss but random inactivation characterize women with primary biliary cirrhosis. M. Miozzo, C. Selmi, P. Invernizzi, S. M. Sirchia, S. Maitz, B. Gentilin, M. Zuin, M. E. Gershwin, M. Podda.

1743/B Molecular and cytogenetic elucidation of a familial case of Prader-Willi syndrome: evidence of a rare imprinting center mutation. D. Allingham-Hawkins, C. Gibbons, D. Kennedy, J. Tokunaga, M. Bedford, A. Hunter, K. Chun.

1744/C Identification of two sex-specific quantitative trait loci in chromosome 11q for hip bone mineral density in Chinese. Q. Y. Huang, M. Y. M. Ng, C. L. Cheung, V. Chan, P. C. Sham, A. W. C. Kung.

1745/A Investigations of a candidate region for dyslexia on chromosome 7q32. H. Matsson, H. Anthoni, M. Zucchelli, J. Schumacher, G. Schulte-Körne, I. R. Koenig, J. Nopola-Hemmi, H. Lyytinen, M. M. Nöthen, J. Kere, M. Peyrard-Janvid.

1746/B An Age-Related Macular Degeneration Susceptibility Locus on Chromosome 16p12. K. Spencer, S. Schmidt, M. A. Hauser, W. K. Scott, L. M. Olson, P. Gallins, N. Schnetz-Boutaud, A. Agarwal, E. A. Postel, M. A. Pericak-Vance, J. L. Haines.

1747/C Reference DNA in CGH-array studies of inherited anomalies: pool of normal DNA can generate background due to copy number polymorphisms. V. David, S. Le Gallou, I. Gicquel, C. Dubourg, L. Pasquier, M. R. Durou, C. Henry, S. Odent, C. Bendavid.

1748/A Comparison of FLT-1 binding domain of modeled VEGF-C with VEGF-A sheds light on receptor specificity. M. Kasap, A. Sazci.

1749/B Strong evidence for gene-gene interactions in rheumatoid arthritis (RA). L. F. Barcellos, P. P. Ramsay, E. Madden, P. K. Gregersen, L. A. Criswell.

1750/C Family-based association study of the 9p22 chromosomal region in Italian subjects with allergic asthma. A. Begnini, E. Trabetti, G. Malerba, C. Bombieri, L. Xumerle, M. Biscuola, R. Galavotti, P. F. Pignatti.

1751/A Toward the characterization of modifier genes for glaucoma in a huge French-Canadian pedigree carrying the K423E myocilin mutation: identification of clusters for age at onset of the disorder. P. Belleau, K. Lebel, R. Arseneault, J. L. Anctil, A. Duchesne, G. Côté, M. A. Rodrigue, V. Raymond.

1752/B The Apoptotic Pathway and Idiopathic Talipes Equinovarus. A. R. Ester, X. Tang, A. Scott, S. H. Blanton, J. T. Hecht.

1753/C Parent of Origin Effects and HLA-DRB1 Risk in Systemic Lupus Erythematosus. L. K. Komorowski, L. F. Barcellos, P. P. Ramsay, R. R. Graham, G. Artim, M. F. Seldin, J. B. Harley, T. W. Behrens, L. A. Criswell.

1754/A Analysis of candidate genes for nonsyndromic cleft lip and/or palate in Brazilian trios with both a parent and offspring affected. A. L. Silva, L. A. Ribeiro, M. E. Cooper, M. L. Marazita, D. Moretti-Ferreira, J. C. Murray.

1755/B The Familial Mediterranean Fever (FMF) gene (MEFV) as a disease susceptibility gene in Inflammatory Bowel Disease (IBD). A.-C. Villani, M. Lemire, E. Louis, M. Silverberg, Y. Renaud, S. Brunet, C. Collette, G. Fortin, C. Libioulle, A. Bitton, D. Gaudet, A. Cohen, D. Langelier, J. Rioux, P. Rutgeerts, G. Wild, S. Vermeire, T. J. Hudson, D. Franchimont.

1756/C Genome scan follow up studies provide further evidence for a primary open angle glaucoma loci on chromosome 14q11-q22 and 15q11-q15. J. L. Wiggs, R. R. Allingham, M. A. Hauser, L. Olson, C. Santiago-Turla, E. A. DelBono, K. Abramson, F. Lennon, M. A. Pericak-Vance, J. L. Haines.

1757/A Significant associations between MTHFR gene polymorphism and obesity traits were found in a large family sample. X. G. Liu, L. J. Zhao, D. H. Xiong, R. R. Recker, H. W. Deng.

1758/B Role of cytoplasmic DNA in other disease. M. Houshmand.

1759/C Mitochondrial haplogroups are associated with asthma and total serum IgE levels. B. J. Klanderman, S. Mazza, J. C. Celedon, S. T. Weiss, B. A. Raby.

1760/A Mitochondrial DNA haplogroup J alters the susceptibility to inherited type 2 diabetes and complications. D. Mishmar, J. Feder, I. Blech, O. Ovadia, J. Wainstein, I. Raz, S. Dadon, B. Glaser.

Molecular Basis of Mendelian Disorders

1761/B Autosomal recessive severe Brachydactyly caused by a novel BMPR1B mutation. O. Agamy, I. Abuelaish, R. Ofir, O. S. Birk.

1762/C Compound heterozygous mutations in the diastrophic dysplasia sulfate transporter gene (DTDST) in a family with intermediate SEMD phenotype between MED and diastrophic dysplasia. M. Czarny-Ratajczak, K. Kozlowski, A. Latos-Bielenska, D. J. Prockop.

1763/A An EVC2 mutation is associated with Weyers acrofacial dysostosis and severe EvC syndrome in the same pedigree. M. Galdzicka, E. W. Jabs, E. I. Ginns.

1764/B Hypophosphatasia: c.1133A>T, p.D378V is the most common American TNSALP mutation. S. Mumm, D. Wenkert, X. Zhang, M. Geimer, J. Zerega, M. P. Whyte.

1765/C A novel COL1A2 mutation leading to osteogenesis imperfecta type 1 in identical twins. T. P. Ponnapakkam, D. Sledge, R. Gensure.

1766/A The homogeneous mutant collagen in Brtl/Mov compound mice is associated with a milder osteogenesis imperfecta phenotype than occurs in heterozygous Brtl/+ mice, despite increased matrix insufficiency due to the mov13 null allele. T. E. Uveges, J. A. Megnack, E. L. H. Daley, S. A. Goldstein, J. C. Marini.

1767/B RMRP Analysis in Patients with Variable Clinical Presentations of Cartilage Hair Hypoplasia (CHH). S. Vidal-Cardenas, B. Loeys, V. McKusick, C. Francomano, N. Braverman.

1768/C Juvenile Paget’s disease: the second reported, oldest patient is homozygous for TNFRSF11B “Balkan” mutation (966_969delTGACinsCTT) which elevates circulating immunoreactive osteoprotegerin levels. M. P. Whyte, P. N. Singhellakis, M. B. Petersen, S. Mumm.

1769/A Increased Hprt deletions in Blm hypomorphic mice in vivo are mediated by illegitimate recombination. I. V. Tereshchenko, Y. Chen, L. D. McDaniel, R. A. Schultz, J. A. Tischfield, C. Shao.

1770/B Association of Progerin-Interactive Partners with Lamina Proteins. W. Ju, G. Radu, W. T. Brown, N. Zhong.

1771/C Mutation of a putative potassium channel tetramerization domain gene in familial progressive myoclonic epilepsy. M. Abramowicz, R. Azizieh, A. Aeby, L. De Meirleir, F. Christiaens, J. Desir, P. Van Bogaert.

1772/A Mutational analysis of EFHC1 gene in Italian families with Juvenile Myoclonic Epilepsy. F. Annesi, G. Annesi, A. Gambardella, Gruppo di studio Lega Italiana Contro l'Epilessia.

1773/B SIL1 and SARA2 mutations in a family with Marinesco-Sjogren and Chylomicron Retention Diseases. G. Annesi, P. Tarantino, F. Annesi, E. V. De Marco, D. Civitelli, A. Torroni, A. Quattrone.

1774/C Mutation analysis of pantothenate kinase 2 (PANK2) gene in patients with pantothenate kinase-associated neurodegeneration (PKAN). E. Battaloglu, B. Bilir, C. Yalcinkaya, Z. Yapici.

1775/A Expression pattern of WHSC3 (Wolf-Hirschhorn syndrome candidate gene 3) during neocortex and cerebellum development suggests a role in neuronal migration. A. Boerdlein, S. Schlickum, A. Winterpacht, S. U. Endele.

1776/B Mitochondrial coupling defect in fibroblasts from patients with Mnf2-related Charcot-Marie-Tooth type 2A. D. Bonneau, D. Loiseau, C. Verny, A. Chevrollier, V. Guillet, M. A. Pou, Y. Malthièry, P. Amati-Bonneau, P. Reynier.

1777/C Novel genomic rearrangements of ATM gene identified in Ataxia-Telangiectasia Italian patients. S. Cavalieri, A. Funaro, P. Porcedda, V. Turinetto, N. Migone, R. A. Gatti, A. Brusco.

1778/A Rare cases from a large sample of Rett syndrome patients, including a MECP2 mutated male and a female with a novel CDKL5 mutation. F. Cogliati, M. Masciadri, I. Moroni, M. Marchi, P. Vigliano, R. Gaggero, M. T. Bonati, L. Larizza, S. Russo.

1779/B Molecular analyses in a female with symptoms of Rett syndrome and Pelizaeus-Merzbacher disease. G. M. Hobson, T. Alberico, K. Sperle, L. Banser, J. Taube, A. P. Davis-Williams, J. R. Jones, M. J. Friez, G. Bibat, S. Naidu.

1780/C Clinical and genetic correlations in subjects with the puratrophin-1 (-16C>T) genetic change. K. Ishikawa, T. Amino, N. Sato, T. Ishiguro, T. Tsunemi, S. Toru, H. Mizusawa.

1781/A A missense mutation in the canine ortholog of ATF2 in standard poodles with neonatal seizures and encephalopathy. G. S. Johnson, X. Chen, R. D. Schnabel, J. F. Taylor, H. G. Parker, E. E. Patterson, T. Awano, S. Khan, D. P. O'Brien.

1782/B Comparative analysis of the SCA10 ATTCT pentanucleotide repeat indicates the repeat sequence originates from retrotransposons. T. Kurosaki, T. Matsuura, K. Ohno, S. Ueda.

1783/C Distinguishing apparently sporadic CADASIL from other leucoencephalopathies: the role of MRI in the NOTCH3 gene screening. M. Liguori, C. Ungaro, F. L. Conforti, A. Patitucci, A. Magariello, T. Sprovieri, A. L. Gabriele, M. Muglia, R. Mazzei.

1784/A Two novel NOTCH3 mutations not involving cysteine residues in CADASIL patients. R. Mazzei, C. Ungaro, M. Liguori, F. L. Conforti, A. Gambardella, T. Sprovieri, A. Patitucci, A. Magariello, A. L. Gabriele, A. Qualtieri, M. Muglia.

1785/B Poly-Alanine tract expansion in Aristaless-related homeobox (ARX) causes cognitive impairment in MRX87 family. M. G. Miano, C. Laperuta, P. D'Adamo, A. Maiorino, P. Chiurazzi, V. Ventruto, C. Carbone, M. D'Urso, M. V. Ursini.

1786/C Genetic analysis of acute necrotizing encephalopathy. D. Neilson, M. Adams, D. Tefft, K. Trevarthen, D. Kerr, M. Warman.

1787/A Analysis of the 3' UTR of the MECP2 gene in patients with clinical diagnosis of Rett syndrome and mental retardation. M. Santos, A. M. Coutinho, J. Yan, C. Yang, J. Feng, A. Vicente, T. Temudo, S. Sommer, P. Maciel.

1788/B Choreoathetosis gene mapping in a Native American family. A. E. Shrimpton, J. Zeligman, C. Hubbell, J. Pellegrino.

1789/C CAG repeat instability and motor deficit in a transgenic mouse model of Machado-Joseph disease. A. Silva-Fernandes, M. C. Costa, R. Franco-Duarte, P. Oliveira, P. Maciel.

1790/A Mutation analysis approach to uncover the gene responsible of an autosomal recessive spastic ataxia associated with frequent white matter changes that map to 2q33-34. I. Thiffault, M. Tetreault, L. Loiselle, J. Mathieu, M. Vanasse, G. A. Rouleau, J. P. Bouchard, J. Lessage, B. Brais.

1791/B Analysis of gene dosage of a-synuclein gene in multisystem atrophy. T. Tsunemi, K. Ishikawa, H. Jun, H. Mizusawa.

1792/C The novel L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. K. R. J. Vanmolkot, M. Pusch, B. de Vries, A. H. Stam, E. Babini, T. Freilinger, M. A. Welch, N. Ramadan, R. R. Frants, M. D. Ferrari, M. Dichgans, A. M. J. M. van den Maagdenberg.

1793/A Chromatin immunoprecipitation identifies direct neural targets of a gene implicated in human speech and language disorder. S. C. Vernes, E. Spiteri, J. Nicod, M. Groszer, K. E. Davies, D. H. Geschwind, S. E. Fisher.

1794/B Single-exon deletion or a large deletion of 42 exons in dystrophin gene can be detected with multiplex ligation-dependent probe amplification (MLPA) in Chinese DMD patients. X. Z. Wang, F. Yao, N. Zhong.

1795/C Mutations in PLA2G6 cause infantile neuroaxonal dystrophy and neurodegeneration with brain iron. S. K. Westaway, N. V. Morgan, A. Gregory, S. Sonek, J. E. V. Morton, J. Coryell, P. Gissen, H. Cangul, N. Canham, S. Pasha, N. Nardocci, D. Rodriguez, I. Desguerre, B. Wilmot, P. Kramer, J. Gitschier, S. J. Hayflick, E. R. Maher.

1796/A Gene mutations for NELF in 75 patients with Kallmann syndrome and cellular localization of NELF in GnRH neurons. N. Xu, W. C. Xiong, R. S. Cameron, L. C. Layman.

1797/B Molecular analysis of SPG7 in patients with Hereditary Spastic Paraplegia. H. G. Yntema, M. Ruiterkamp-Versteeg, J. Bokhorst, G. Schobers, H. Scheffer, W. M. Nillesen, E. A. Sistermans.

1798/C Spinocerebellar ataxia type 8: bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions. T. Zu, M. L. Moseley, Y. Ikeda, W. Gao, A. K. Mosemiller, R. Daughters, G. Chen, M. R. Weatherspoon, H. B. Clark, T. J. Ebner, J. W. Day, L. P. W. Raumn.

1799/A Variants in TGFb1 are associated with severe lung disease in homozygous DF508 cystic fibrosis patients. L. A. Bremer, S. M. Blackman, L. L. Vanscoy, J. M. Collaco, K. E. McDougal, G. R. Cutting.

1800/B DUX4 transcriptionally regulates paired-like homeodomain transcription factor 1. M. Dixit, Y.-W. Chen.

1801/C Dysregulation of Alternative Splicing of Coagulation Factor V Results in Bleeding Disorder, East Texas Type. L. M. Vincent, V. Tran-Fadulu, W. P. Dubinsky, B. Dahlback, D. M. Milewicz.

1802/A SOS1 mutation alters cell cycle progression in hereditary gingival fibromatosis. S. I. Jang, E. J. Lee, P. S. Hart, M. Ramasawmi, D. Pallos, T. C. Hart.

1803/B Structural and DNA binding differences between VWS and PPS mutations in IRF6. N. K. Rorick, L. Gakhar, T. R. Waldshmidt, D. Schipper, J. C. Murray, B. C. Schutte.

1804/C Short isoform of Myoclonin1/EFHC1 in human and monkey but not in mouse. T. Suzuki, A. Delgado-Escueta, K. Yamakawa.

1805/A Autozygosity mapping of a consanguineous family with an autosomal recessive fifth mandibular incisor phenotype using the 500K SNP Affymetrix microarray. J. M. Gee, S. El-Toum, G. A. Mendoza, T. J. Pemberton, A. Cassia, A. Feki, A. Megarbane, P. I. Patel.

1806/B Dysregulation of sodium channel b4 subunit by expanded polyglutamine. F. Oyama, H. Miyazaki, K. Okamura, Y. Machida, M. Kurosawa, T. Sakurai, N. Nukina.

1807/C Axonal swellings and impaired axonal transport in a mouse model of spastic paraplegia linked to spastin mutation. A. Tarrade, C. Fassier, S. Courageot, D. Charvin, E. Mouisel, J. Vitte, A. Thorel, N. Fonknechten, N. Roblot, D. Seilhean, A. Diérich, J. J. Hauw, J. Melki.

1808/A Transmission and instability of the Huntington's Disease CAG repeat length in a large multigenerational Venezuelan pedigree. D. Brocklebank, J. Gayán, M. Andresen, S. Roberts, D. Housman, L. Cardon, N. Wexler, The U.S.-Venezuela Collaborative Research Group.

1809/B Novel, complex interruptions of the GAA repeat in the small expanded alleles of two affected siblings with a mild, late onset form of Friedreich's ataxia. E. C. Frackelton, D. R. Lynch, J. M. Farmer, J. McCallum, C. A. Stolle.

1810/C Myotonic Dystrophy 1: CUG repeats alter phosphorylation-dependent functions of CUG triplet repeat binding protein, CUGBP1. L. T. Timchenko, C. H. Huichalaf, K. Sakai, H. Nguyen, E. Salisbury, N. A. Timchenko.

1811/A Polyglutamine-expanded peptides produce neurodegeneration through a JNK-dependent, Bax-dependent pathway of apoptotic activation. J. E. Young, J. P. Taylor, R. Martinez, A. C. Smith, K. H. Fischbeck, G. A. Garden, A. R. La Spada.

1812/B Localization of a gene for Human Premature Hair Greying on chromosome 9q34. J.-L. Blouin, O. de Lacharrière, E. T. Dermitzakis, C. Deloche, P. Galan, P. Bastien, G. Duriaux Sail, M. Gagnebin, C. Gehrig, A. Christen, B. Bernard, S. Hercberg, S. E. Antonarakis.

1813/C Identification of a novel major BBS gene (BBS10) coding for a vertebrate specific chaperonine-like protein and mapping of BBS12. H. Dollfus, C. Stoetzel, J. Muller, V. Laurier, E. Davies, N. Salem, E. Chouery, S. Corbani, N. Jalkh, S. Rix, J. L. Badano, C. Leitch, A. Verloes, O. Poch, D. Bonneau, A. Mégarbané, P. Beales, N. Katsanis, J. L. Mandel.

1814/A Refinement of the FEVE locus and candidates. B. A. Johannes, B. G. Elyas, M. Hicks, S. M. Haase, J. S. Bamforth, H. F. Pabst, M. A. Walter, K. A. Sprysak, L. M. Vicen-Wyhony, M. J. Somerville.

1815/B Analysis of IC140: an IDA intermediate chain dynein as a candidate gene for Primary Ciliary Dyskinesia (PCD). M. R. Knowles, M. W. Leigh, M. P. Kennedy, P. G. Noone, S. M. Lyons, E. Escudier, H. Omran, S. Amselem, M. A. Zariwala.

1816/C Prevalent and uncommon filaggrin mutations cause ichthyosis vulgaris. A. Terron-Kwiatkowski, A. Sandilands, F. J. D. Smith, M. van Geel, M. A. M. van Steensel, W. H. I. McLean.

1817/A Genotype-phenotype correlation in mitochondrial optic neuropathies. P. Amati-Bonneau, M. Ferré, C. Verny, M. Barth, V. Guillet, A. Chevrollier, Y. Malthièry, D. Bonneau, P. Reynier.

1818/B CRYBA4, a Novel Human Cataract Gene that is also Involved in Microphthalmia. G. Billingsley, S. Santhiya, A. D. Paterson, K. Ogata, S. Wodak, S. M. Hosseini, M. S. Manohar, P. Vijayalakshmi, P. M. Gopinath, J. Graw, E. Héon.

1819/C Histological Findings in GUCY2D-/- x PDErd10/rd10 Double Mutant Mice Suggest a Protective Effect of cGMP Depletion in Photoreceptors Lacking Rod-Specific PDE Function. J. M. Rozet, I. Perrault, K. Bigot, A. Provot, L. Vede, G. Pivert, A. Munnich, M. Abitbol, J. Kaplan.

1820/A MECP2 large deletions and exon 1 mutations in RTT patients. F. Ariani, I. Longo, F. Mari, C. Pescucci, K. Sampieri, R. Artuso, E. Scala, R. Caselli, M. Bruttini, I. Meloni, G. Hayek, M. Zappella, A. Renieri.

1821/B X chromosome investigations in X-linked infantile spinal muscular atrophy (XL-SMA): New observations and new strategies. L. Baumbach, J. Ramser, M. E. Ahearn, K. O. Yariz, C. Lenski, M. M. Barmada, A. Meindl.

1822/C Dosage analysis of the proteolipid protein 1 (PLP1) gene in Pelizaeus-Merzbacher disease. B. Bilir, Z. Yapici, C. Yalcinkaya, E. Battaloglu.

1823/A Two uncommon dystrophin deletions associated with Becker muscular dystrophy (BMD). G. Galluzzi, J. Mela, L. Colantoni, R. Verardo, S. Servidei.

1824/B Partial rescue of truncating mutations in the ATRX gene through unusual intraexonic splicing. R. J. Gibbons, N. Malik, C. Fisher, A. Fryer, D. R. Goudie, I. D. Krantz, J. Traeger-Synodinos, E. Kanavakis.

1825/C A Novel Glutamic Acid-358 to Glutamine Substitution Mutation in Ectodysplasin A causes X-linked Dominant Incisor Hypodontia Not X-linked Hypohidrotic Ectodermal Dysplasia. P. S. Tarpey, T. J. Pemberton, D. W. Stockton, P. Das, V. Ninis, S. Edkins, P. A. Futreal, R. Wooster, S. Kamath, R. Nayak, M. R. Stratton, P. I. Patel.

1826/A RASA1: an important gene for Parkes Weber syndrome. N. Revencu, L. M. Boon, O. Enjolras, P. E. Burrows, M. R. Cordisco, E. Baselga, H. J. Paltiel, I. Quere, A. Delerue, C. Delerue, J. M. Caballos Quintal, R. Vanwijck, J. B. Mulliken, M. Vikkula.

1827/B Impact of DNAI1 and DNAH5 pathogenic mutations in a cohort of unselected PCD patients. M. Failly, A. Saitta, M. Alvarez, C. Ramos, L. Gilbert, S. E. Antonarakis, L. Bartoloni, J.-L. Blouin.

1828/C Neurofibromatosis type 2 (NF2) in children under 1 year of age: a clinical and molecular study. A. L. Gabriele, M. Ruggieri, C. Nucifora, A. Patitucci, T. Sprovieri, A. Magariello, R. Mazzei, F. L. Conforti, C. Ungaro, M. Muglia, A. Quattrone.

1829/A High prevalence of autosomal dominant spinocerebellar ataxia linked to 16q22.1 (16q-ADCA) in the Japanese families with autosomal dominant cerebellar ataxia. Y. Ichikawa, S. Tsuji, J. Goto.

1830/B Identification of the gene responsible for defect in hair development of the “hairpoor” mouse derived from ENU mutagenesis. J. Kim, E. Kim, D. Cha, C. Song, J. Yoon, S. Kim.

1831/C Testicular expressed genes are missing in familial X-linked Kallmann syndrome due to Two large different deletions around the KAL1 gene. R. Parvari, N. Loewenthal, A. Peretz, E. Hershkovitz.

1832/A Mutations of PRSS1 and SPINK1 Genes in Korean Patients with Idiopathic Recurrent or Familial Pancreatitis. H.-W. Yoo, J. M. Ko, S. K. Lee, M.-H. Kim, G.-H. Kim.

1833/B Renal phenotype of heterozygous Lmx1b knockout mice (Lmx1b+/-) after uninephrectomy. S. U. Endele, S. Klein, T. Molter, S. Richter, B. Klanke, A. Winterpacht.

1834/C Mutation analysis in a cohort of 115 cases of Oral-facial-digital type 1 syndrome: an international collaborative effort. B. Franco, C. Prattichizzo, V. Novelli, G. Giorgio, The International OFD Collaborative Research Group.

1835/A A mutation of b-Actin responsible for a new neurological syndrome associated with dystonia and deafness alters actin dynamics and mitochondrial bioenergetics. V. Procaccio, G. Salazar, S. Ono, M. Styers, M. Gearing, A. Davila, R. Jimenez, J. Juncos, C. Gutekunst, G. Meroni, B. Fontanella, E. Sontag, J. M. Sontag, V. Faundez, B. Wainer.

1836/B Genetic and cellular analysis of Meckel syndrome. R. Punyashthiti, B. Consugar, C. J. Ward, V. Kubly, R. Bacallao, V. H. Gatton II, V. E. Torres, P. C. Harris.

1837/C MAPK Pathway Mutations in CFC Syndrome: delineation of Molecular Heterogeneity and Genotype-phenotype Correlation. K. A. Rauen, P. Rodriguez-Viciana, A. L. Estep, W. E. Tidyman.

1838/A The Prader-Willi-like phenotype in Fragile X syndrome. F. Tassone, S. T. Nowicki, M.-F. Croquette, P. J. Hagerman, R. J. Hagerman.

1839/B Familial Noonan syndrome with high intelligence associated with an isoform-specific KRAS mutation. S. Unger, D. Horn, K. Lehmann, M. Zenker, C. Kratz.

1840/C Homozygous silencing of the TBR2 locus by position effect results in severe neuronal proliferation defect and corpus callosum agenesis. L. Baala, S. Briault, A. Assermouh, F. Laumonnier, T. Attie-Bitach, F. Encha-Razavi, M. Clément-Ziza, S. Romana, J. Amiel, G. Goudefroye, A. Sbiti, H. Natiq, A. Munnich, A. Sefiani, S. Lyonnet.

1841/A Characterization of a 1q21:6q25 Translocation Associated With Congenital Glaucoma. K. V. Ramchand, M. D. Tocyap, J. L. Haines, J. L. Wiggs.

1842/B Novel mutations in two large Saudi families affected with L-2-Hydroxyglutaric aciduria. M. Ul Haque, E. Faqieh, A. Alduraihem, N. M. Saleh, H. A. Abalkhail, M. Al-Owain, A. Tbakhi, M. Al-Sayed.

1843/C Chromatin DNaseI Sensitivity of the Facioscapulohumeral Muscular Dystrophy-Linked D4Z4 Repeat Array and an Adjacent Sequence. K. Tsumagari, S. Hauschka, M. Ehrlich.

1844/A Cohesin association to chromatin is deregulated in Roberts syndrome. H. Vega, O. Gualdron, M. Gordillo, E. W. Jabs.

1845/B Fatal form of KID syndrome. S. Hadj-Rabia, D. Hamel-Teillac, C. Parsy, C. Thibaud, L. Jonard, M. Levêque, D. Feldmann.

1846/C Modeling the mutational effects on calcium binding to the epidermal growth factor (EGF) domain of fibrillin-1. S.-C. Chao, C.-H. Tsai, Y.-J. Lin, J.-S. Chen, C.-H. Lin, L. Chuang, J.-M. Wu, S.-J. Lin, H. S. Sun.

1847/A Genetic Heterogeneity of Meckel Gruber Syndrome. L. Deda, S. Herd, D. Chitayat, E. Héon.

1848/B G protein-coupled receptor GPR143 mutation causes X-linked recessive inheritance congenital idiopathic nystagmus. J. Y. Liu, X. Ren, X. Yang, T. Guo, Q. Yao, L. Li, L. Wang, X. Dai, Z. Cai, Z. Tang, M. Liu, Q. K. Wang.

1849/C The rare form of Pseudohypoparathyroidism type Ic (PHP-Ic) is caused by mutations in the C-terminal of the GNAS gene. L. de Sanctis, B. Ceoloni, F. Cresi, M. Street, M. Salerno, S. Grosso, W. Ahrens, O. Hiort.

1850/A HNF-1a mutation search in families of the Polish Nationwide Registry of MODY. J. Skupien, M. T. Malecki, T. Klupa, S. Gorczynska-Kosiorz, D. K. Moczulski, J. Sieradzki.

1851/B Detection of muscular dystrophy genotypes via universal condition direct sequencing (UCDS). R. R. Bennett, H. E. Schneider, C. Feener, A. Lakdawalla, P. S. Lai, C. E. Barrett, V. Lip, B. L. Wu, B. T. Darras, A. Beggs, L. M. Kunkel.

1852/C Somatic instability of CTGn expansion in Myotonic Dystrophy type 1 (DM1) patients and genotype-phenotype correlation. E. Bonifazi, A. Botta, R. Iraci, L. Vallo, V. Romeo, M. Gennarelli, C. Angelini, G. Novelli.

1853/A Zoom-in CGH arrays for the characterization of variable breakpoint contiguous gene syndromes. J. J. Johnston, R. L. Walker, S. Davis, P. S. Meltzer, L. G. Biesecker.

1854/B Molecular diagnostics for Autosomal Recessive Polycystic Kidney Disease (ARPKD). M. Losekoot, C. R. Haarloo, S. J. White, M. H. Breuning, D. J. M. Peters.

1855/C Deletion of the entire FBN1 gene is a recurrent mutation in Marfan syndrome. G. Pals, R. van Spaendonk, A. Nygren.

1856/A Gross Rearrangement in the MID1 gene in a patient with familial Opitz/GBBB syndrome: Implications for Molecular Diagnosis of Opitz/GBBB Syndrome. A. B. Santani, E. Frackelton, C. Mulcahy, E. Zackai, D. M. McDonald-McGinn, T. Shaikh, D. Driscoll, C. A. Stolle.

1857/B Mitochondrial DNA depletion syndrome. S. Seneca, L. Van Haute, R. Van Coster, G. Van Goethem, A. Löfgren, J. Smet, J. Jaeken, M. C. Nassogne, B. François, P. Garcia, W. Lissens, A. Meulemans, I. Liebaers, L. De Meirleir.

1858/C Dp71ab/DAPs complex composition changes during the differentiation process in PC12 cells. J. Romo-Yáñez, V. Ceja, R. Ilarraza, R. Coral, F. Velázquez, D. Mornet, A. Rendón, C. Montañez.

1859/A Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5’ untranslated region of the NIPBL gene. G. Borck, M. Zarhrate, C. Cluzeau, E. Bal, J.-P. Bonnefont, A. Munnich, V. Cormier-Daire, L. Colleaux.

1860/B Preliminary results of an ophthalmological evaluation and molecular studies in a deaf Colombian population. M. Olarte, N. Gelvez, G. Mariluz, S. Florez, D. Medina, M. Tamayo.

1861/C A Coch knock-in mouse model for late-onset DFNA9 deafness. N. G. Robertson, T. A. Sivakumaran, S. A. Hamaker, A. B. S. Giersch, C. C. Morton.

1862/A Novel mutations in the OTOF gene in Brazilian subjects with auditory neuropathy. J. Romanos, M. L. Fávero, P. A. Otto, R. C. Mingroni-Netto.

1863/B A truncating DFNA5 mutation shows that only a very specific gain-of-function mutation leads to DFNA5-associated hearing loss. L. Van Laer, N. Myer, F. Alasti, Y. Riazalhosseini, M. Malekpour, A. Vandevelde, M. Moghannibashi, K. Kahrizi, H. Najmabadi, G. Van Camp, R. J. H. Smith.

1864/C Low expression of GJB2 and GJB6 segregates with DFNB1 deafness and with a distant 131 kb deletion in an extended Michigan family. E. Wilch, M. Zhu, K. B. Burkhart, M. Regier, J. L. Elfenbein, R. A. Fisher, K. H. Friderici.

1865/A The Developmental Genome Anatomy Project (DGAP): finding genes critical in human development. R. Williamson, F. Alkuraya, Y. Fan, H. Ferguson, J. Gusella, D. Harris, C. Kelly, K. Kocher, A. Ligon, W. Lu, R. Maas, B. Quade, F. Quintero-Rivera, I. Saadi, C. Morton.

1866/B Identification of Na/K ATPase b1 subunit as an interacting partner of WFS1. M. Zatyka, C. Ricketts, J. A. L. Minton, S. Fenton, G. daSilvaXavier, S. Hofmann, C. McConville, G. A. Rutter, T. G. Barrett.

1867/C The Machado-Joseph disease protein ataxin-3 interacts with NEDD8. A. Ferro, A. Carvalho, A. Teixeira-Castro, C. Almeida, R. Tomé, J. Sequeiros, S. Macedo-Ribeiro, P. Maciel.

1868/A Skewed X-inactivation and X-linked recessive lethal infantile spinal muscular atrophy (XL-SMA) as co-inherited traits in a Spanish pedigree: possible clues to disease gene identification. M. E. Ahearn, F. Martinez, J. Tarleton, J. Laursen, K. O. Yariz, Y. S. Fan, H. Zhu, J. Ramser, A. Meindl, L. Baumbach.

1869/B A novel g.-1285C>T substitution in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia. G. A. Mendoza, J. M. Gee, C. Gonzalez-Quevedo, K. Lee, J. Hartiala, S. M. Leal, H. Allayee, P. I. Patel.

1870/C Effects of carbonic anhydrase 8 deficiency on cerebellar gene expression profiles in the wdl mouse. Y. Jiao, J. Yan, F. Jiao, H. Tu, J. Stuart, L. R. Donahue, W. G. Beamer, X. Li, B. Roe, M. S. LeDoux, W. Gu.

1871/A An analysis of the GRIK2 Modifier effect in Huntington disease. S. Kishikawa, W. Zeng, T. Gillis, L. Djoussé, R. H. Myers, M. E. MacDonald, J. F. Gusella.

1872/B Familial ATP7B Gene Analysis for Wilson Disease. G. Kaur, S. Kumar, B. R. Thapa, R. Prasad.

1873/C Global profiling of aberrant splicing in myotonic dystrophy using the Affymetrix human exon array. L. Bachinski, K. A. Baggerly, S. Tsavachidis, S. E. Olufemi, M. Sirito, J. Gamez, G. Bassez, B. Eymard, T. Ashizawa, J. Mendell, B. Udd, R. Krahe.

1874/A Decreased expression of Hsp27 associated with cell toxicity in a cellular model of Machado-Joseph Disease. M. Hsieh, W. H. Chang, F. C. Wen.

1875/B Cytoplasmic aggregates and proteolytic cleavage of the a1A calcium channel in Spinocerebellar ataxia type 6. T. Ishiguro, K. Ishikawa, T. Amino, T. Tsunemi, H. Mizusawa.

1876/C Annexin V interacts with Cystic fibrosis transmembrane conductance regulator. P. Trouvé, M. A. Le Drévo, M. Kerbiriou, Y. Fichou, D. Gillet, C. Férec.

1877/A Genotype to Biochemical Phenotype correlation in Tay-Sachs disease. R. Zimmer, L. Mays, S. Bhatt, S. Marenberg.

1878/B Exploring the Reversibility of the Smith-Magenis Syndrome (SMS) Phenotype. K. Walz, J. Molina, A. Cardenas, P. Carmona, J. I. Young, J. R. Lupski.

1879/C New CFTR gene variants in Cystic Fibrosis and Chronic Rhinosinusitis Chilean patients. G. Molina, C. Musri, M. González, A. Vera, F. Vásquez, F. Krause, A. Milinarsky, V. Lezana.

1880/A A common founder for the Lrrk2 Gly2019Ser mutation in Italian PD patients. D. Civitelli, P. Tarantino, G. Nicoletti, I. C. Cirò Candiano, F. Annesi, E. V. De Marco, S. Carrideo, G. Provenzano, P. Spadafora, F. E. Rocca, G. Annesi.

1881/B High prevalence of IVS14+1G>A mutation in the AAAS (Allgrove Syndrome) gene among Puerto Rican newborns. M. C. Schneider, P. J. Santiago Borrero, A. Morales Reyes, S. Ireland, A. Shouse, R. G. Leon.

1882/C Nucleotide sequence analysis of exon 1 of the MECP2 gene in patients previously found to be negative for mutations in exons 2, 3, and 4. B. Anderson, F. Quan, A. Buller, M. McGinniss, M. Peng, W. Sun, C. Strom.

1883/A A Novel mutation in the VDR gene in an Iranian patient with vitamin D-dependent Rickets type II. V. Hadavi, N. Almadani, W. Wuyts, M. H. Kariminejad, H. Najmabadi.

1884/B Hemophilia A: molecular defects and mutation detection rate in severe, mild and moderate affected patients. J. Horst, A. Markoff, R. Eisert, C. Wermes, H. Pollmann, A. Todorova, U. Nowak-Göttl, N. Bogdanova.

1885/C Comprehensive and highly efficient molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) by mutation screening. S. Rossetti, M. B. Consugar, A. B. Chapman, V. E. Torres, J. J. Grantham, L. M. Guay-Woodford, C. M. Myers, J. P. Miller, P. C. Harris for CRISP Consortium.

1886/A Clinical and molecular studies of thirteen families with achromatopsia. W. Wiszniewski, R. A. Lewis, J. R. Lupski.

1887/B A non-glycine sequence variant (P435T) of the COL3A1 gene associated with an autosomal dominant syndrome of joint hyperlaxity, easy bruising, pelvic organs prolapses, premature rupture of the membranes and rectal bleeding. D. P. Germain.

1888/C Pilot Study of Patients Affected With Leber Congenital Amaurosis (LCA) Clinically Selected With Regard to the Previously Established Genotype-Phenotype Correlations. S. Hanein, I. Perrault, N. Delphin, S. Gerber, J. L. Dufier, A. Munnich, J. M. Rozet, J. Kaplan.

1889/A Malignant Hyperthermia Susceptibility: diagnostic procedure and novel RYR1 mutations. S. Levano, M. Singer, S. Treves, A. Urwyler, T. Girard.

1890/B Investigation of the inducible nitric oxide synthase gene (NOS2A) polymorphisms in multiple sclerosis. I. Manna, P. Valentino, A. La Russa, F. Condino, R. Nisticò, A. Clodomiro, M. Canino, R. Cittadella, A. Quattrone.

1891/C The influence of YY1 and retinoic acid in the Treacher Collins syndrome gene (TCOF1) regulation. C. Masotti, E. Kague, M. R. Passos-Bueno.

1892/A Genotype-Phenotype Analysis of the MGC1203 C430T Mutation in an Ethnically Diverse BBS Cohort. C. Mok, J. Bin, N. Noordeh, E. Héon.

1893/B Androgen insensitivity syndrome: several novel mutations in the androgen receptor gene associated with sex determination. O. T. Mueller, H. Mason-Suares, R. Hitchcock, A. Root.

1894/C Ryanodine Type 1 Receptor mutations in Neuromuscular Disorders. N. Sambuughin, S. Muldoon, B. Brandom, T. Nelson, L. Goldfarb.

1895/A Retinitis pigmentosa in Colombia: clinical and molecular studies. L. Urrego, N. Gelvez, S. Florez, D. Medina, M. Tamayo.

1896/B Genotype-phenotype correlation for age of onset in patients with nephrotic syndrome and NPHS2 mutations. C. N. Vlangos, B. G. Hinkes, B. Mucha, R. A. Gbadegesin, F. Ozaltin, A. Bakkaloglu, J. H. Liu, K. Hasselbacher, F. Hildebrandt.

1897/C Alpha-synuclein promoter haplotypes and dementia in Parkinson's disease. E. V. De Marco, P. Tarantino, G. Provenzano, D. Civitelli, F. E. Rocca, F. Annesi, I. C. Cirò Candiano, S. Carrideo, V. De Luca, F. Condino, N. Romeo, G. Nicoletti, R. Marconi, M. Zappia, G. Annesi.

1898/A Analysis of the interactome of RPS19, mutated in Diamond Blackfan Anemia. I. Dianzani, A. Aspesi, S. Orrù, M. Armiraglio, M. Caterino, F. Loreni, M. Ruoppolo, C. Santoro.

1899/B Common deletions in Iranian patients with db-thalassemia. F. Esteghamat, H. Imanian, A. Azarkeivan, N. Almadani, H. Najmabadi.

1900/C Current status of thalassemia in minority populations in Guangxi, China. T. Huang, H. Pan, G. Long, Q. Li, Y. Feng, Z. Lei, H. Wei, Y. Huang, J. Huang, N. Lin, Q. Xu, S. Ling, X. Chen.

1901/A DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. A. Benet-Pages, M. Bastepe, B. Lorenz-Depiereux, M. Amyere, J. Wagenstaller, U. Müller-Barth, K. Badenhoop, R. S. Rittmaster, A. H. Shlossberg, J. L. Olivares, C. Loris, F. J. Ramos, F. Glorieux, M. Vikkula, H. Jüppner, T. M. Strom.

1902/B Deficiency of D¹-pyrroline-5-carboxylate synthase (P5CS) in a consanguineous New Zealand family. L. S. Bicknell, J. Pitt, M. Maw, R. Ramadas, C. Wilson, S. Aftimos, S. P. Robertson.

1903/C Autosomal dominant seborrhea-like dermatitis caused by a mutation in ZNF750, a novel putative C2H2 zinc finger protein. R. Birnbaum, A. Zvulunov, D. Hallel-Halevy, R. Ofir, E. Cagnano, O. S. Birk.

1904/A A point mutation in the 3’ untranslated region of CNTN4 is associated with spinocerebellar ataxia type 16. Y. Fukumaki, S. Miura, H. Shibata, H. Furuya, Y. Ohyagi, M. Osoegawa, Y. Miyoshi, H. Matsunaga, N. Takeuchi, A. Shibata, N. Matsumoto, A. Iwaki, T. Taniwaki, H. Kikuchi, J. Kira.

1905/B Peters' Plus syndrome is a congenital disorder of glycosylation caused by mutations in B3GALTL. S. A. J. Lesnik Oberstein, M. Kriek, S. J. White, M. E. Kalf, K. Szuhai, J. T. den Dunnen, M. H. Breuning, R. C. M. Hennekam.

1906/C The TRIM50 and TRIM37 complex: a link between Williams Beuren Syndrome and Mulibrey Nanism. G. Merla, L. Micale, B. Augello, C. Fusco, C. Ucla, G. Meroni, L. Napolitano, A. Reymond.

1907/A Mutations in the CEP290/NPHP6 gene, encoding Centrosomal Protein 290/Nephrocystin-6, cause Joubert Syndrome with Nephronophthisis, blindness, and cerebellar defects. E. A. Otto, J. A. Sayer, H. Khanna, J. F. O'Toole, M. A. Kennedy, B. V. Fausett, M. Attanasio, J. Helou, D. Williams, Y. Liu, L. Ma, X. Zhu, I. Glass, A. Swaroop, D. Goldman, I. Drummond, P. Nurnberg, A. Swaroop, M. R. Leroux, F. Hildebrandt.

1908/B Evaluation of the Third Wave® InPlex™ CFTR Microfluidics Card Assay: limitations and Controls. H. Rennert, A. Khazanova, J. Sipley.

1909/C A polyalanine contraction in HOXD13 is associated with complex brachydactyly. X. Zhang, X. Zhao, M. Sun, W. Yang, X. Zeng, W. H. Y. Lo, E. W. Jabs, X. Shan.

1910/A Heterozygosity of A91V-PRF1 in patients with Familial Hemophagocytic Lymphohistiocytosis. K. Zhang, J. A. Johnson, J. Biroschak, J. Villanueva, S. M. Lee, J. Bleesing, R. J. Wenstrup, A. H. Filipovich.

1911/B A 1-2-3 principle as the standard for distinguish of rare single nucleotide polymorphism from causal mutation. Y. F. Yin, L. D. Liu, C. L. Zhou, K. Li, H. L. Gao.

1912/C Sporadic Congenital Lymphedema Can Be Caused By A De Novo VEGFR3 Mutation. A. Ghalamkarpour, S. Morlot, J. B. Mulliken, L. M. Boon, M. Vikkula.

1913/A A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular and cellular characteristics. A. Blumenfeld, N. Schreyer-Shafir, M. Huizing, Y. Anikster, Z. Nusinker, I. Bejarano-Achache, G. Maftzir, L. Resnik, A. Helip-Wooley, W. Westbroek, L. Gradstein, A. Rosenmann.

1914/B A novel HEXB gene mutation producing a dual pathogenic mechanism results in the Sandhoff' motor neuron phenotype. M. Santoro, G. Silvestri, A. Modoni, M. Sabatelli, F. Piemonte, E. Ricci, P. Tonali.

1915/C Identification of three potential candidate genes for autosomal dominant mental retardation. A. K. Srivastava, S. D. Menon, G. F. Guzauskas, V. S. Vervoort, M. R. Vayalapaty, F. Zhang, S. Ladd, K. C. Ukadike, A. King, B. R. DuPont, K. Clarkson, R. J. Schroer.

1916/A A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic mental retardation in a Japanese family. K. Takano, E. Nakagawa, K. Inoue, F. Kamada, S. Kure, Y. Goto.

1917/B Expression profiling in families with Mitochondrial Myopathy and Sideroblastic Anemia (MLASA) and homozygous mutation in the Pseudouridylate Synthase I (PUS1) gene. Y. Bykhovskaya, E. Mengesha, N. Fischel-Ghodsian.

1918/C Analyzing the effects of mitochondrial tRNA gene of leu/lys and ATPase6, mutations as a possible cause of Friedreich's Ataxia in Iranian FA patients. S. EtemadAhari, S. Kasraie, M. Houshmand, M. Moin, M. Bahar.

1919/A Investigation of Leu/Lys tRNA gene mutation in Iranian Ataxia Telangiectasia patients. S. Kasraie, S. EtemadAhari, M. Houshmand, M. Moin, M. Bahar.

1920/B Homozygote Twinkle mutation in mitochondrial DNA depletion. A. Rotig, D. Chretien, V. Serre, A. Slama, A. Munnich, E. Sarzi.

1921/C Novel mutations in the deoxyguanosine kinase gene and viral infection predispose previously healthy children to liver failure. J. T. C. Shieh, L. J. C. Wong, G. M. Enns.

1922/A Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31. G. Wang, K. Viet, M. Nance, P. Gaskell, A. Ashley-Koch, M. Pericak-Vance, S. Züchner.

1923/B Generation of Trim37 knockout mice. R. H. Hämäläinen, A. L. Träskelin, A. E. Lehesjoki.

1924/C Abnormal Magnesium Balance in Trpm6 and Trpm7 mutant mice. R. Y. Walder, L. V. Ryazanova, B. Yang, M. P. Andrews, X. Cao, M. V. Dorovkov, L. Rondon, A. Mazur, J. B. Stokes, V. C. Sheffield, A. G. Ryazanov.

1925/A Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in the syndrome of hypoparathyroidism, mental and physical retardation and dysmorphism (HRD). G. A. Diaz, G. Tian, M. Huang, R. Parvari, N. Cowan.

1926/B Identification of a gene expression signature and an increased plasticity in periosteal fibroblasts from Apert syndrome patients. R. Fanganiello, A. L. Sertie, N. Oliveira, E. M. Reis, E. Yeh, D. Bueno, N. Alonso, S. Cavalheiro, I. Kerkis, S. Verjovski-Almeida, M. R. Passos-Bueno.

1927/C GALNT3 mutations cause familial tumoral calcinosis by decreasing intact FGF23. H. J. Garringer, H. Boztepe, R. Tankakol, S. M. J. Mortazavi, F. Esteghamat, M. Malekpour, K. E. White.

1928/A Interactions between BBS proteins provide functional support for oligogenic inheritance in Bardet-Biedl syndrome. A. J. Ross, J. Hill, P. L. Beales.

1929/B POLG1 gene mutations are not a common cause of sporadic ataxia in Italy. C. Cagnoli, A. Brussino, E. Di Gregorio, E. Dragone, M. Ferrone, S. Padovan, N. Migone, A. Brusco.

1930/C Clinic and genetic study in a family with a clinical picture of pantothenate kinase-associated neurodegeneration. I. C. Cirò Candiano, F. Annesi, S. Carrideo, E. V. De Marco, D. Civitelli, P. Tarantino, F. E. Rocca, M. Caracciolo, G. Provenzano, G. Annesi.

1931/A Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy. F. L. Conforti, T. Sprovieri, R. Mazzei, C. Ungaro, A. Patitucci, A. Magariello, A. L. Gabriele, M. Muglia, A. Quattrone.

1932/B Molecular and functional analysis of paraplegin gene (SPG7) mutations in patients with spastic paraplegia. D. DiBella, F. Lazzaro, M. Plumari, C. Gellera, C. Mariotti, M. Muzi-Falconi, S. Baratta, F. Taroni.

1933/C Niemann-Pick type C disease: molecular genetic study in a cohort of eleven patients with highly variable clinical manifestations. L. Dvorakova, M. Hrebicek, M. Bouckova, H. Vlaskova, L. Stolnaja, M. Elleder.

1934/A Novel mutation in DSPP underlying DI type II. S. Hart, J. Atkinson, S. J. Choi, M. D. Ramaswami, T. C. Hart.

1935/B A Novel CFTR Mutation in a Korean Infant with Cystic Fibrosis. J. H. Lee, G.-H. Kim, J. M. Ko, H.-W. Yoo.

1936/C Mutational analysis of SCN2A gene in Italian families with Benign Familial Neonatal-Infantile Seizures (BFNIS). E. Mannarino, F. Annesi, E. V. De Marco, S. Carrideo, F. E. Rocca, G. Provenzano, P. Tarantino, I. C. Cirò Candiano, D. Civitelli, G. Tortorella, A. Gambardella, G. Annesi.

1937/A Novel mutations in the MFN2 gene causing familial and sporadic axonal Charcot-Marie-Tooth disease type 2 (CMT2). M. Milani, D. Pareyson, V. Seveso, C. Gellera, F. Taroni.

1938/B CFTR gene study in African children with cystic fibrosis phenotype: identification of a novel A204T missense mutation and frequencies of common polymorphisms•. L. Mutesa, C. Verhaeghe, K. Segers, J. F. Vanbellinghen, L. Ngendahayo, C. Oury, L. Koulischer, V. Bours.

1939/C HNPP due to a novel frameshift mutation of the PMP22 gene. A. Patitucci, M. Muglia, R. Rizzi, C. Ungaro, F. L. Conforti, A. L. Gabriele, A. Magariello, R. Mazzei, L. Motti, R. Saladini, T. Sprovieri, N. Marcello, A. Quattrone.

1940/A Uncommon Rearrangements and De Novo Mutations Associated With Leber Congenital Amaurosis (LCA). I. Perrault, S. Hanein, N. Delphin, S. Gerber, J. L. Dufier, J. Kaplan, J. M. Rozet.

1941/B Parkin mutations in patients with early onset parkinsonism. F. E. Rocca, F. Annesi, P. Tarantino, I. C. Cirò Candiano, S. Carrideo, D. Civitelli, G. Provenzano, E. V. De Marco, G. Annesi.

1942/C Paucity of mutations in GJB2 and GJB6 in African American and Caribbean Hispanic populations. J. M. Samanich, R. Burk, C. Lowes, S. Shanske, A. Shanske, B. E. Morrow.

1943/A CHARGE syndrome: genotype-phenotype correlations and mutational hotspots at the CHD7 locus. D. Sanlaville, S. Audollent, G. Goudefroye, J. Amiel, V. Abadie, C. Baumann, H. Dollfus, D. Genevieve, C. Thauvin, S. Marlin, A. Toutain, C. Cruaud, H. Etchevers, J. Weissenbach, A. Munnich, T. Attié-Bitach, S. Lyonnet.