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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