Poster Listing

POSTER PRESENTATION LISTINGS

San Diego Convention Center
Exhibit Hall 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: Wednesday, 4:30 pm–6:30 pm (Session I: W posters); Thursday, 4:30 pm–6:30 pm (Session II: T posters); Friday, 10:30 am–12:30 pm (Session III: F posters). In the poster presentation listings, W, T, or F follows the abstract number, indicating the day on which the presentation occurs. New this year: To encourage discussion and to exchange information, posters are sorted by related topics, 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/W Genetic alterations in bilateral breast cancer. A. Shadeo, J. Chae, J. Kennett, W. L. Lam.

288/W Characterization of chromosome aberrations in meningiomas combining standard cytogenetic and array CGH technique. J. Han, K. E. Kim, R. Y. Goh, K. S. Woo, J. E. Sim, K. U. Kim, L. G. Shaffer.

289/W Frequency of p190BCR-ABL and p210BCR-ABL fusion transcripts in Colombian patients with chronic myeloid leukemia (CBL) and Philadelphia positive-acute lymphoid leukemia (ALL-Ph+). C. A. Aya, C. E. Muskus, F. Cuéllar-Ambrossi, J. D. Torres, F. Quintero-Rivera, G. Vásquez-Palacio.

290/W Molecular analysis of additional partner chromosome-BCR junctions of complex BCR-ABL1 rearrangements. S. M. Benjes, C. M. Morris.

291/W Diagnosis of t(9;14)(p13;q32) in post-transplant lymphoproliferative disorder. S. L. Betz, M. A. Vigil, K. W. Rao.

292/W Cytogenetic features associated with FLT3 abnormalities in acute myeloid leukemia (AML). A. Block, S. N. J. Sait, S. Kakati, P. Starostik, M. Barcos, G. Deeb, M. Wetzler, E. S. Wang.

293/W Analysis of promoter methylation for 15 genes in different types of leukemias. K. Bodoor, A. Alkhateeb, Y. Haddad.

294/W Clonal chromosome evolution in a patient with germ cell cancer and treatment-related MDS. D. Boles, D. King, J. Parker, B. Carstarphen, C. Stollmack, S. Chai, S. McClure.

295/W Application of high resolution genomic analysis to define clonal relationships between synchronous lung tumors. J. M. Campbell, T. P. Buys, J. Chae, C. MacAulay, S. Lam, W. L. Lam.

296/W The development of a sarcoma FISH profile to detect recurrent translocations in soft tissue sarcomas. A. W. Carlson, R. A. Knudson, B. M. Shearer, R. P. Ketterling.

297/W Identification of commonly aberrant genomic regions using high resolution oligo array CGH of FFPE breast cancer samples. C. Carmack, R. Davis, A. De Witte, B. Poirier, E. Lin, A. Borowski, J. Ghosh, J. Gao, S. Giles, E. LeProust, D. Amorese, D. Roberts, S. Shams, J. Gregg.

298/W Complex chromosomal abnormalities in an adolescent with alveolar rhabdomyosarcoma. N. Chen, Q. Tao, H. Liu, W. Nugent, H. O. Shah, J. Lin.

299/W A case of myeloma with C-MYC double minutes. J. M. Cowan.

300/W Tiling resolution array CGH, expression, and methylation analyses of dup(1q) in Burkitt lymphomas and pediatric high hyperdiploid acute lymphoblastic leukemias reveal clustered near-centromeric breakpoints and overexpression of genes in 1q22-32.3. J. Davidsson, A. Andersson, K. Paulsson, M. Heidenblad, M. Isaksson, A. Borg, J. Heldrup, M. Behrendtz, I. Panagopoulos, T. Fioretos, B. Johansson.

301/W Molecular relationship between HER2 and BRCA1 in invasive breast carcinoma. B. Deyarmin, R. E. Ellsworth, C. D. Shriver.

302/W Chromosomal and molecular signatures oligodendrogliome. M. Gadji, D. Fortin, A.-M. Tsanaclis, R. Drouin.

303/W The Role of Germ Cells in Cancer. R. Goradia, S. Merchant.

304/W Development of a clinical array CGH test for identification of genomic imbalances in hematological malignancies. S. Gunn, M. E. Gorre, B. Tirtorahardjo, X. T. Reveles, R. S. Robetorye, P. Cottter, M. S. Mohammed.

305/W Translocation (11;11)(p15;q22) in Acute Myeloid Leukemia: a case report. S. Gupta, Y. Saffari, R. Nagwekar, R. Forte, J. Brody, P. Koduru.

306/W Altered expression of FGF8 in myxoinflammatory fibroblastic sarcoma characterized by a recurrent t(1;10)(p22;q24-25). K. H. Hallor, R. Sciot, H. C. F. Bauer, I. Panagopoulos, N. Mandahl, F. Mertens.

307/W Genetic and epigenetic evidence for gain of active X-linked genes in ovarian cancer cell lines. S. Harbord, C. J. Brown, A. Cotton, C. Salamanca, N. Auersperg, W. P. Robinson.

308/W FISH enhances sensitivity of cytogenetic analysis in evaluation of MDS. W.-T. Hsu, K. Szego, S. Gregory, P. Venugopal, H. Fung, J. Loew, J. Shammo.

309/W Genomic Alterations detected in Colon Cancer Cell Lines by using Array-Comparative Genomic Hybridization. M. J. Kim, S. Y. Park, H. J. Hann.

310/W Results of plasma cell specific FISH analysis of 1,971 patients. R. A. Knudson, R. P. Ketterling.

311/W Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukemia and a normal or failed karyotype. E. Kuchinskaya, M. Heyman, A. Nordgren, J. Schoumans, J. Staaf, S. Söderhäll, D. Grandér, A. Borg, M. Nordenskjöld, E. Blennow.

312/W Evidence for spontaneous chromosome breakage syndrome in a case of multiple early-onset tumors of the genitourinary tract. N. Le Meur, A. Rossi, B. Resch, S. Baert-Desurmont, T. Frebourg.

313/W Molecular characterization of a new Ewing sarcoma cell line: EWS-ERG fusion gene hidden within a complex three chromosomes rearrangement, associated with RB1 loss and polyploidyzation. G. Maire, J. Bayani, C. Pereira, C. Brown, D. H. Gravel, J. C. Bell, J. A. Squire, M. Zielenska.

314/W Evaluation of N-myc amplification status in 14 neuroblastoma tumors by FISH. M. J. Marafie, R. Mittal, S. Abulhasan, Z. Mohammed, A. Al-Adwani.

315/W Two cases of deletions of the derivative chromosome 9 in CML. T. A. Mercado, A. Zaslav, S. Richard, D. Tully, E. Knorr, M. Dahir.

316/W Common leukemia-associated genetic alterations in prenatal samples. D. Mercer, X. Hu, M. M. Li.

317/W Epigenetic regulation of expression of Septin 9 isoforms in cancer cells. C. Montagna, D. Connolly, S. Nguyen, M. Suzuki, K. Nagata, N. Suhr, J. Glass, J. M. Greally, S. B. Horwitz, P. Verdier-Pinard.

318/W Secondary cytogenetic changes accompanying the t(2;7)(p11-12;q21-22) of chronic lymphoproliferative disease: implications for mechanisms underlying disease progression. S. Moore, N. Wickham, R. Fraser, J. Suttle, D. Kotasek, T. Hillier.

319/W Aneuploidy of chromosome 17 and TP53 gene deletion in gastrointestinal tumors of a Colombian cohort. C. M. Muñetón-Peña, G. C. Ramírez-Gaviria, J. C. Herrera-Patiño, L. F. Isaza-Jimenez, F. Quintero-Rivera, G. Vásquez-Palacio.

320/W High-resolution analysis of Segmental DNA Changes in various cancer tissues. Y. Murayama, S. Ozawa, S. Asakawa, Y. Saikawa, H. Hasegawa, H. Jinno, K. Aiura, A. Takayanagi, M. Maekawa, Y. Kitagawa, M. Kitajima, N. Shimizu.

321/W A comparison of the proximal promoter regions of the PAX3 and PAX7 genes. E. Möller, M. Isaksson, N. Mandahl, F. Mertens, I. Pangopoulos.

322/W MLL amplification is a distinct biological entity in patients with MDS/AML carrying complex chromosomal changes and predicts poor prognosis. V. Nandula, E. Ritchie, D. Savage, B. Alobeid, G. Bhagat, V. V. Murty.

323/W Positional dislocation of an intact RARa due to inv(17)(p12q22) in a case of acute myeloid leukemia. K. H. Ramesh, D. Wei, M. Zohouri, H. Ratech, R. Shaknovich, A. Verma, L. A. Cannizzaro.

324/W Detection of Philadelphia chromosome in patients with chronic myeloid leukemia (CML) and acute lymphoblastic leukemia (ALL) by conventional and molecular techniques. G. C. Ramirez-Gaviria, C. Aya, M. Diosa, J. L. Ramírez-Castro, F. Quintero-Rivera, G. Vásquez-Palacio.

325/W Identification and characterization of a NUP98-PHF23 fusion gene in acute myeloid leukemia. J. C. Reader, J. S. Meekins, I. Gojo, Y. Ning.

326/W Development of a Clinical Biomarker Assay for the t(4;14) Translocation Associated with Multiple Myeloma. M. R. Reed, J. A. Roseberry Baker, G. Zhao, C. Lopez-Correa.

327/W Validation of micro-array comparative genomic hybridization (aCGH) from cancer cell lines by FISH to provide biomarkers for pharmaceutical development. J. A. Roseberry Baker, E. M. Felke, R. Gupta, L. Gautier, Y. Xiang, C. Lopez-Correa.

328/W Abnormal karyotype at relapse of Acute Myeloid Leukemia (AML) patients with normal primary diagnostic karyotype. S. N. J. Sait, E. S. Wang, M. Barcos, A. W. Block, M. Wetzler, G. Deeb.

329/W An unusual chromosomal change in a patient with multiple moyeloma. H. O. Shah, N. Chen, Y. Zhong, R. Nagwekar, H. Yu, J. Lin.

330/W Loss of maternal alleles on chromosome 11 is associated with aggressive prostatic rhabdomyosarcoma in two patients with Costello Syndrome. K. Sol-Church, D. L. Stabley, K. Conard, L. Nicholson, J. Sanford Biggerstaff, W. Liu, J. Campbell, W. H. Meyer, K. W. Gripp.

331/W Identification of Gain 1q and 12 as the most common karyotypic changes in Wilms tumor: analysis of 36 patients. S. Subramaniyam, S. V. Nandula, J. Kandel, W. Middlesworth, D. Yamashiro, B. Tycko, V. V. Murty.

332/W Exclusion of APC and VHL gene deletions by array based comparative hybridization in two patients with microscopically visible chromosomal aberrations. G. A. Toruner, R. J. Wallerstein, S. Sklower Brooks, D. L. Streck, R. Kuravthi.

333/W Characterization of a complex karyotype in a patient with primary plasma cell leukemia using multicolor spectral karyotyping. E. Van Assche, Z. Berneman, A. van de Velde, M. van der Plancken, K. Vermeulen, H. De Raeve, R. Van Luijck, S. Scheers, B. Blaumeiser, J. Wauters.

334/W The clinical significance of Y chromosome loss in hematologic disease. D. L. Van Dyke, A. E. Wiktor, J. M. Hodnefield, C. A. Hanson.

335/W Non-random telomere length changes associated with specific chromosome ends in chronic myeloid leukemia (CML). J. Yan, O. Samassekou, A. Ntwari.

336/W Constitutional Cytogenetic Analysis in Men with Familial Testicular Germ Cell Tumor. C. M. Mueller, L. Korde, J. Peters, M. H. Greene.

337/W Clinical, cytogenetic and molecular profiling of chromosome breakage disorders in patients of Indian origin. R. Shukla, R. A. Gatti, M. Kabra.

338/W The four and a half LIM domain protein 2 (FHL2) interacts with CALM and is highly expressed in AML with complex aberrant karyotypes. Z. Pasalic, B. Tizazu, M. Mulaw, L. Fröhlich-Archangelo, A. Krause, P. Greif, S. Bohlander.

339/W Comparative Evaluation of Conventional Cytogenetics, Flow Cytometry, FISH and Array- CGH in Chronic Lymphocytic Leukemia (CLL) Patients. A. Dwivedi, A. Ehsan, R. S. Robetorye, S. R. Gunn, S. G. Adhvaryu.

340/W Cytogenetic analysis of 135 myelodysplastic syndrome patients. E. Pariltay, A. Alpman, E. Karaca, B. Durmaz, O. Cogulu, F. Ozkinay.

341/W Evaluation of cytogenetic markers in peripheral blood lymphocytes of asbestos exposed workers. S. Yadav, A. B. Pant, M. Yunus, Q. Rahman.

342/W Serendipitous detection of a constitutional microdeletion 16p13.11 in a patient with AML-M4eo. H. Bruyere, C. J. Jensen, K. W. Song.

343/W Sequential phenotype-genotype analysis improves detection of residual disease in "high risk" B-cell ALL. E. L. Enriquez, V. Bedell, Y. Kim, Q. Huang, S. J. Forman, M. L. Slovak.

344/W Sequential phenotype/genotype FISH assay targeting rare tumor cells using archived bone marrow smears and paraffin embedded tissue sections. V. Bedell, S. J. Forman, K. Gaal, V. Pullarkat, L. M. Weiss, G. Somlo, S. Wilcyznski, M. L. Slovak.

345/W Determination of the induced apoptosis by cyclophosphamide in cultures of human lymphocytes by assay comet. G. Razo-Aguilera, R. Baez-Reyes.

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Cancer Genetics

346/T Leptin Gene Polymorphism Is Associated with Breast Cancer In Obese Postmenopausal Women. B. A. Bhavani, M. Madhupoornima, Ammena.

347/T Accurate prediction of BRCA1 and BRCA2 heterozygous genotype using expression profiling of lymphocytes after irradiation induced DNA damage. Z. Kote-Jarai, S. Jugurnauth, L. Matthews, I. Giddings, E. Bancroft, P. Agius, M. Girolami, C. Campbell, R. Eeles, Carrier Clinic Collaborators.

348/T Analysis of the Myb Oncogene and its Cooperation in Nf1 Leukemogenesis. A. G. Hadjipanayis, B. Sack, J. Walrath, J. Zucali, V. Kelley, J. Guerts, D. Largaespada, S. Kogan, J. Resnick, K. Shannon, P. Wallace.

349/T Investigation of the Association between Trinucleotide Repeat at the First Exon of Androgen Receptor Gene and A/G Polimorphism in Prostate Specific Antigen Gene Promoter Region. D. Alptekin, M. Izmirli, Y. Bayazit, H. U. Luleyap, B. Soyupak, Z. Tansu.

350/T Juvenile Hyaline Fibromatosis, a Genetic Disease. Three Mexican Cases Report. J. Aparicio, P. M. Barrientos, M. V. Chong, H. M. A. Garrido, L. A. Luis, H. G. Lopez, M. L. De la Torre, R. N. Balbuena, H. M. L. Hurtado, S. S. Monroy, O. N. C. Gil, B. W. San Martin, H. F. Lara.

351/T Serum proteins of tumor free and tumor bearing Xiphophorus. A. Islam.

352/T Depletion of Bypass DNA polymerases leads to genomic instability after treatment with DNA interstrand crosslinking agents. K. Riggan, A. Hemphill, M. Al-Dhalimy, S. B. Olson, R. E. Moses.

353/T Study of the MAGE Family in Carcinogenesis and Clinical Application of Human Colorectal Cancer. M. J. Yang, J. Y. Wang, S. R. Lin.

354/T Genomic deletions of the APC gene can result both in diffuse and attenuated forms of adenomatous polyposis. S. Baert-Desurmont, J. Bou, J. Tinat, J. Mauillon, O. Bera, S. Olschwang, T. Frebourg.

355/T Splicing defects associated with unclassified variants of BRCA and BRCA2 detected using a novel reverse transcription-PCR design and a DNA-based ex vivo splicing assay. C. Bonnet, S. Krieger, A. Rousselin, M. Vézain, I. Tournier, A. Martins, T. Frebourg, M. Tosi, A. Hardouin.

356/T Individualized risk predictions to estimate the clinical benefit of risk reduction mastectomy (RRM) and oophorectomy (RRSO) in BRCA carriers with breast cancer. H. Burke, A. Hoang, K. Metcalfe, J. Culver, D. MacDonald, M. Grant, A. Thornton, M. Robson, S. Narod, J. Weitzel.

357/T Multiple rare non-synonymous variants in APC predispose to colorectal tumors. J. P. Cheadle, D. Azzopardi, A. R. Dallosso, K. Eliason, B. C. Hendrickson, N. Jones, E. Rawstorne, J. Colley, V. Moskvina, C. Frye, J. R. Sampson, R. Wenstrup, T. Scholl.

358/T Fatigue and Sleep Disturbances in Asymptomatic BRCA1/2 Mutation Carrier Women: preliminary Study. E. Dagan, T. Shochat, R. Gershoni-Baruch.

359/T Timing of BRCA1/BRCA2 genetic testing in women with ovarian cancer. M. S. Daniels, D. L. Urbauer, J. L. Stanley, K. G. White, K. H. Lu.

360/T Fanconi Anemia D1 Presenting as Breast Cancer caused by bi-allelic BRCA2 gene mutations. M. Dasouki, K. Penning, A. Shwaiki, S. Mundt.

361/T Germline SDHB and SDHD mutations in a hospital-based series of patients with hereditary pheochromocytoma and paraganglioma. E. Edelman, K. Zbuk, A. Shealy, R. R. Lorenz, C. Eng.

362/T Recognizing A Milder Phenotype Of Tuberous Sclerosis. H. Gaddipati, K. Nathanson.

363/T Determining pathogenicity of a BRCA1 missense variant - a multi-modal approach. N. Hamel, M. A. Carvalho, G. Birrane, A. Soni, E. H. van Beers, S. Joosse, D. Novak, P. M. Nederlof, S. Grist, D. Goldgar, S. Tavtigian, A. N. A. Monteiro, J. A. A. Ladias, W. D. Foulkes, M. Tischkowitz.

364/T The Tip60 chromatin remodeling complex functions in the Fanconi anemia pathway of DNA interstrand crosslink repair. J. Hejna, M. Holtorf, A. Hemphill, A. Starks, P. M. Jakobs, Y. Akkari, M. Al-Dhalimy, S. B. Olson, R. E. Moses.

365/T Total leukonychia and sebaceous cysts in a novel family: are the acoustic neurinomas of the index case in relation with the disease? C. Jeanpetit, G. Morin, C. Desenclos, S. Olschwang, N. Levy, M. Mathieu.

366/T Response to neo-adjuvant chemotherapy in women with BRCA1-positive breast cancers. J. Lubinski, T. Byrski, J. Gronwald, T. Huzarski, E. Grzybowska, M. Budryk, M. Stawicka, T. Mierzwa, M. Szwiec, R. Wisniowski, M. Siolek, S. A. Narod, The Polish Hereditary Breast Cancer Consortium.

367/T Two cases of malignant phyllodes tumor in patients with history of bilateral retinoblastoma: a possible novel association with RB1 germline mutations. J. Mak.

368/T Swedish adenomatous polyposis families: notably High mutation detection rate and colorectal cancer morbidity in probands. M. Nordling, A. Rohlin, K. Fritzell, G. Kanter Smoler, J. Meuller, J. Björck.

369/T A patient with pancreatic neuroendocrine tumors and Von Hippel-Lindau V84L mutation: a new VHL subset? E. C. Oquendo, H. C. Gaddipati, K. L. Nathanson.

370/T Multifocal pheochromocytoma in a patient with Beckwith-Wiedemann syndrome: a case report and review of the literature. L. Palma, L. Feldman, G. Domanowski, E. Shoubridge, W. D. Foulkes.

371/T Intrafamilial correlation of age at breast cancer onset in BRCA1 and BRCA2 carriers. S. Panchal, M. Ennis, S. Canon, L. J. Bordeleau.

372/T Collecting Family History of Cancer in a Primary Care Setting from a Middle-Income Country. M. F. Prearo, M. Floria-Santos, E. M. M. Santos, L. M. Alvarenga, C. M. Cenzi.

373/T Assessment of the "MMRpredict" model for prediction of DNA mismatch repair gene mutations. K. G. Rabe, S. K. Nigon, N. M. Lindor.

374/T Therapeutic implications of a differential response to rapamycin in cells from Gorlin Syndrome patients versus unaffected controls. M. R. Rossi, B. Hoffman, J. Zhou, S. Westman, P. Beck, S. Mane, L. M. Milstone, J. A. Crowell, L. Kopelovich, A. G. Knudson, A. E. Bale.

375/T Large Germline Deletions of the Fumarate Hydratase Gene in Patients with HLRCC. A. B. Santani, C. Vocke, L. Middleton, W. M. Linehan, C. A. Stolle.

376/T Identifying which young women affected with breast cancer are at high risk of carrying a germline mutation in BRCA1. M. Southey, S. Ramus, J. Dowty, G. Dite, G. Byrnes, G. Giles, M. McCredie, J. Hopper.

377/T Clinical testing experience for large genomic rearrangements in the BRCA1 and BRCA2 genes for hereditary breast and ovarian cancer. W. Spence, T. Judkins, J. Schoenberger, S. Rajamani, C. Colvin, S. Chen, M. Frost, J. Trost, R. Wenstrup, B. Roa.

378/T Rare Case of Siblings with Childhood Follicular Thyroid Neoplasia and a PTEN Promoter Deletion. J. Stein, K. Zbuk, A. Stettner, D. Wargowski, C. Eng.

379/T Cowden Syndrome Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation. R. E. Teresi, K. M. Zbuk, M. G. Pezzolesi, J. Bubenik, D. M. Driscoll, K. A. Waite, C. Eng.

380/T A large proportion of unclassified variants of the mismatch repair genes MSH2 and MLH1 are associated with splicing defects. I. Tournier, M. Vezain, A. Martins, F. Charbonnier, S. Baert-Desurmont, J. Soret, J. Tazi, S. Olschwang, Q. Wang, M.-P. Buisine, T. Frebourg, M. Tosi.

381/T BRCA1 c.5074+3A>G (IVS17+3A>G) is a clinically relevant splice site mutation. A. H. van der Hout, I. M. Mulder, M. J. Berends, R. H. Sijmons, Y. J. Vos.

382/T Impact of the BRCA-genes on the burden of familial breast/ovarian cancer in South Africa. E. J. van Rensburg, N. C. van der Merwe, M. D. Sluiter, C. M. Schlebusch.

383/T Classification of BRCA1 and BRCA2 variants using gene expression profiling of lymphoblastoid cell lines treated with ionizing radiation is affected by mutation type. N. Waddell, A. Ten Haaf, M. Gongora, S. Grimmond, G. Chenevix-Trench, A. B. Spurdle, kConFab.

384/T Downregulation of NEIL1 or NEIL2 induces mutator phenotype in mammalian cells. A. K. Maiti, I. Boldogh, S. Mitra, T. K. Hazra.

385/T Characterization of the Finnish prostate cancer susceptibility locus HPCX. T. Wahlfors, H. Mattila, K. Ivori, K. Chang Sik, M. Vihinen, H. Oja, T. Tammela, T. Ikonen, J. Schleutker.

386/T QMPSF : a novel method for detection of 1p19q deletions in gliomas. V. Paquis-Flucklinger, S. Monnot, D. Fontaine, F. Vandenbos, P. Paquis, J. F. Michiels.

387/T The Cancer Genetics Telephone Clinic Model. K. Myhill, S. Shanley, R. Doherty, A. Ardern-Jones, S. Hall, C. Vince, S. Thomas, P. Aspinall, R. Eeles.

388/T Robotic microscopy for detection and analysis of circulating tumor cells. F. Ntouroupi, A. Seppo, S. Wang, Y. Kim, P. Tsipouras, F. Tafas, M. W. Kilpatrick, W. F. Bodmer.

389/T Fine-mapping of 42 hereditary prostate cancer families narrows the interval for a susceptibility locus on chromosome 22q12.3. B. Johanneson, S. K. McDonnell, D. M. Karyadi, S. J. Hebbring, L. Wang, K. Deutsch, L. McIntosh, E. M. Kwon, M. Suuriniemi, J. Stanford, D. J. Schaid, E. A. Ostrander, S. N. Thibodeau.

390/T A description of the first oncogenetic clinic for BRCA1/2 mutation carriers in London: The Carrier Clinic. E. Bancroft, A. Ardern-Jones, K. McReynolds, S. Shanley, Z. Kote-Jarai, R. Eeles, Carrier Clinic Collaborators.

391/T International Variation in Rates of Uptake of Preventive Options in BRCA1 and BRCA2 Mutation Carriers. K. Metcalfe, D. Birenbaum-Carmeli, J. Lubinski, J. Gronwald, H. Lynch, P. Moller, P. Ghadirian, W. Foulkes, E. Friedman, C. Kim-Sing, P. Ainsworth, B. Rosen, S. Domchek, T. Wagner, N. Tung, S. Manoukian, F. Couch, P. Sun, S. Narod.

392/T High-resolution oligonucleotide array-CGH applied to large rearrangements in BRCA1, BRCA2, MLH1 and MSH2 genes. E. Rouleau, C. Lefol, S. Tozlu, C. Andrieu, C. Guy, F. Copigny, C. Nogues, I. Bieche, R. Lidereau.

393/T Digital PCR and High Resolution Melting for the Discovery of Very Low Allele Fraction Somatic Mutations in Tumor Samples. J. T. McKinney, M. D. Wall, L. L. Cutler, D. Ruddy, B. Gorbetcheva, J. Monahan, D. H. F. Teng.

394/T Evaluation of whole genome amplification in tumor genome analysis. W. Winckler, R. Onofrio, N. Burtt, C. Guiducci, R. Tewhey, K. Ardlie, M. Meyerson, S. Gabriel.

395/T Novel mutations in BHD and expansion of the spectrum of phenotypes in 50 new families with Birt-Hogg-Dubé Syndrome. J. Toro, M. Weinreich, G. M. Glenn, O. Toure, P. Pinto, M. Merino, M. Turner, S. M. Steinberg, P. Choyke, L. S. Schmidt, M. H. Wei, W. M. Lihenan.

396/T Vascular endothelial growth factor gene polymorphisms in Taiwanese women with cervical squamous cell carcinoma. T. Y. Chang, Y. C. Yang, Y. J. Lee, T. H. Su, W. F. Chen, H. W. Chan, H. F. Liu, C. C. Chu, M. Lin.

397/T Protein profile analysis and associated genes in laryngeal cancer treated by hypomethylation agent 5aza2dc. Y. Guo, J. Li, Z. M. Xu, K. L. Sun, W. N. Fu.

398/T RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. K. Wimmer, J. Etzler, A. Zatkova, A. Peyrl, H.-U. Schildhaus, A. Ficek, C. Kratz, L. Messiaen, I. Slavc, C. Fonatsch.

399/T The psychological impact of abnormal results in high-risk breast MRI screening. S. M. O'Neill, W. S. Rubinstein, S. F. Sener, D. K. West, D. B. Ekanow, A. W. Rademaker, R. R. Edelman.

400/F Association of 1494del6 polymorphism of Thymidylate Synthase gene (TYMS) in colorectal cancer of Mexican population. V. Peralta, G. Morgan, M. P. Gallegos.

401/F Breast cancer risk associated with genotype val/val polymorphism of the estrogen metabolizing gene CYP1A1 in Mexican population. A. M. Puebla, D. Ontiveros, M. Gallegos.

402/F Deletions of the MEN1 gene are more common than previously thought. P. J. Bridge, T. L. Gillan, M. E. Phillips, D. Gilchrist, A. M. Innes, J. S. Parboosingh.

403/F Evaluation of ODC1 genotype as a modifier of adenoma number in attenuated FAP. M. W. Condie, K. M. Boucher, R. W. Burt, D. W. Neklason.

404/F Occurrence of germline PALB2 mutations in ovarian cancer. H. Erkko, J. Nikkilä, R. Bützow, K. Pylkäs, S. M. Karppinen, M. Reiman, B. Xia, D. M. Livingston, R. Winqvist.

405/F BRCA1:5382insC in Individuals of Eastern European Heritage. D. Gilchrist.

406/F The importance of updating the family cancer history: longitudinal risk assessments of 2508 breast cancer survivors. L. Madlensky, WHEL Study Group.

407/F Residual genetic effects beyond germline p53 mutations in Li-Fraumeni syndrome. C. C. Wu, S. Shete, J. Ma, C. I. Amos, L. C. Strong.

408/F Frequency of m1 polymorphism (CYP1A1) in adult Mexican patients with acute lymphoblastic leukemia. C. Batista, M. P. Gallegos, G. M. Zúñiga.

409/F CYP1B1 variants are associated with prostate cancer in non-Hispanic and Hispanic Caucasians. J. Beuten, J. J. Byrne, I. Balic, T. L. Johnson-Pais, I. M. Thompson, R. J. Leach.

410/F The UGT2B17 gene deletion polymorphism and risk of prostate cancer: a case-control study in Caucasians. C. J. Gallagher, F. F. Kadlubar, J. E. Muscat, C. B. Ambrosone, N. P. Lang, P. Lazarus.

411/F Common polymorphisms in the BRCA1 and BRCA2 genes are not associated with breast cancer risk. J. Long, X. O. Shu, Q. Cai, Y. Gao, W. Zheng.

412/F Association of Tagging SNPs in MLH1 with Prostate Cancer Susceptibility in Men of European Ancestry. P. Pal, H. Xi, S. Guha, G. Sun, S. Indugula, J. Meeks, S. Thaxton, J. Mallik, H. Cheng, B. K. Suarez, W. J. Catalona, R. Deka.

413/F Polymorphism in the IL18 gene and risk of epithelial ovarian cancer in Caucasian women. R. T. Palmieri, M. A. Wilson, E. S. Iversen, P. G. Moorman, J. R. Marks, A. Berchuck, J. M. Schildkraut.

414/F Distribution of genetic variants associated with steroid biosynthesis and prostate cancer in Mexico. M. Rodriguez-Dorantes, K. Carrillo-Sanchez, H. Miranda-Ortiz, C. Rangel-Escareno, G. Jimenez-Sanchez.

415/F Association of the ARLTS1 Gly65Val and Cys148Arg variants with breast and prostate cancer risk. J. Schleutker, S. Siltanen, K. Syrjakoski, R. Fagerholm, T. Ikonen, P. Lipman, K. Holli, T. Tammela, H. J. Jarvinen, J. P. Mecklin, K. Aittomaki, C. Blomqvist, J. E. Bailey-Wilson, H. Nevanlinna, L. A. Aaltonen, P. Vahteristo.

416/F Familial Aggregation of Prostate and Breast Cancer in African Americans and Hispanics. T. J. Costello, C. Pettaway, C. J. Etzel, S. S. Strom.

417/F Genetic risk factors for asbestos-related malignant mesothelioma in a general population study. I. Dianzani, M. Betti, M. Giordano, M. Bertolotti, D. Ferrante, S. Guarrera, D. Mirabelli, G. Matullo, C. Magnani.

418/F Iron-related Gene Variants Increase Childhood Leukemia Risk and Birth Weight. M. T. Dorak, R. MacKay, C. L. Relton, M. Worwood, L. Parker, A. G. Hall.

419/F Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews. W. S. Rubinstein, H. Jiang, L. Dellefave, A. Rademaker.

420/F Germline BRCA2 mutations and the risk of esophageal squamous cell carcinoma. M. R. Akbari, R. Malekzadeh, D. Nasrollahzadeh, D. Amanian, F. Islami, I. Zandvakili, R. Shakeri, M. Sotoudeh, P. Boffette, S. M. Dawsey, P. Ghadirian, S. A. Narod.

421/F A dinucleotide polymorphism in promoter of ankyrin repeat domain 9 gene associated with susceptibility to intestinal-type gastric cancer. H. Ju, C. Kang.

422/F Gene-wide association study on ABCB1/MDR1 polymorphisms and colorectal cancer risk. D. Campa, B. Pardini, P. Vodicka, S. Wilkening, K. Hemminki, R. Barale, F. Canzian.

423/F Admixture and Hormone Receptor Status of Breast Cancer among African Americans. L. Fejerman, E. John, C. Ambrosone, A. Whittemore, S. Neuhauser, K. Amend, W. Davis, D. Bovberg, S. Huntsman, D. Hu, W. Lorizio, E. Ziv.

424/F DNA-repair genetic polymorphisms and breast cancer risk among Cypriot women. A. Hadjisavvas, M. Loizidou, S. Malas, Y. Marcou, K. Kyriacou.

425/F Identification of men with a genetic predisposition to prostate cncer: targeted screening in BRCA1 and BRCA2 mutation carriers and controls. The ‘IMPACT’ study: pilot data. A. Mitra, E. Bancroft, R. Eeles.

426/F Replication of a Genome-Wide Mapping Case-Control Study in Esophageal Cancer. D. Ng, N. Hu, Y. Hu, C. Giffen, Z. Z. Tang, X. Y. Han, H. H. Yang, M. P. Lee, A. M. Goldstein, P. R. Taylor.

427/F Increased risk of stomach and nervous system cancers in Finnish prostate cancer families. S. Pakkanen, M. Matikainen, E. Pukkala, P. Koivisto, T. Tammela, J. Schleutker.

428/F Association between invasive ovarian cancer and alleles involved with breast cancer and prostate cancer susceptibility. H. Song, S. Ramus, S. K. Kjaer, R. A. DiCioccio, L. Quaye, E. Hogdall, A. S. Whittemore, D. E. Easton, C. L. Pearce, G. Chenevix-Trench, S. A. Gayther, P. Pharoah.

429/F Investigation of mismatch repair protein expression in ovarian tumors. J. Wey, D. Boulware, N. Valkov, S. Livingston, S. Nicosia, J.-H. Lee, R. Sutphen, J. Schildkraut, S. Narod, T. Sellers, T. Pal.

430/F Are VEGF and Interleukin Haplotypes risk factors in prostate cancer etiology among African Americans? K. Yanamandra, M. Ankem, D. Napper, P. B. Boggs, H. Chen, S. A. Ursin, G. Mills, J. A. Bocchini, Jr., R. Dhanireddy.

431/F Finding Genetic Risk Factors for Breast Cancer by Pedigree-Free Identity-By-Descent Mapping. B. L. Merriman, Z. Chen, S. F. Nelson.

432/F The MSH2 sequence variant p. Gly322Asp (c.965G>A) is a benign polymorphism. T. B. Bradley, N. Williams, D. Reinhardt, N. Andrew, D. U. Baty, H. R. Davidson, Z. Miedzybrodzka, M. G. Dunlop, M. E. Porteous, J. P. Warner.

433/F Frequency of C677T Polymorphism of MTHFR Gene in Mexican Adult with Acute Lymphoblastic Leukemia. D. Carbajal, A. M. Puebla, L. E. Figuera, M. Gallegos.

434/F Variation in Global Cancer Incidence Rates is Associated with Population-Level Genetic Background. N. V. Campbell, C. M. Nievergelt, E. O. Lillie, N. J. Schork.

435/F Lack of association between HFE gene mutations and breast cancer in Azorean patients. P. R. Pacheco, H. Polena, C. Ballart, T. Eloi, C. C. Branco, R. Cabral, V. Santos, V. Carneiro, L. Mota-Vieira.

436/F Interaction between Estrogen Receptor Alpha Genotypes and Human Herpesvirus 8 Infection Resulting in an Increased Risk of Prostate Cancer. P. R. Shea, C. H. Bunker, P. V. Benos, D. L. Corcoran, A. L. Patrick, F. J. Jenkins, R. E. Ferrell.

437/W A molecular signature for identification of platinum resistant ovarian cancer. M. Bonin, J. Hoffmann, T. Fehm, M. Walter, K. Sotlar, D. Wallwiener, O. Riess, E. Solomayer, H. Neubauer.

438/W Cervical intraepithelial neoplasia and factors in chromatin remodeling: a comprehensive serial analysis of gene expression. J. Y. Kennett, A. Shadeo, R. Chari, C. MacAulay, W. L. Lam.

439/W Common human cancer genes discovered by integrated gene-expression analysis. Y. Lu, Y. J. Yi, P. Y. Liu, W. D. Wen, M. James, D. L. Wang.

440/W Microindels due to highly error-prone processes. W. Scaringe, K. Li, D. Gu, K. Gonzalez, K. Hill, S. Sommer.

441/W Expression profiles of ependymal tumors correlate with clinical characteristics and help to identify involved oncological pathways. T. Palm, F. Scaravilli, I. Salmon, J. Mikol, D. Figarella-Branger, C. Lacroix, F. Chapon, D. Ellison, M. Vikkula, C. Godfraind.

442/W Multi-ethnic Comparisons of Genome-wide Alterations in Breast Cancer Using Paraffin Embedded Samples. L. Baumbach, M. E. Ahearn, M. Jorda, C. Gomez, T. A. Halsey, K. Ellison, S. M. Farragher, G. L. Jellema, S. Gluck.

443/W Association of the -308G>A polymorphism of TNF alfa gene in Mexican patients with breast cancer. A. Escoto, D. Ontiveros, A. M. Puebla.

444/W An investigation into why the T877A androgen receptor mutant found in prostate cancer grows in the absence of androgens. B. Gottlieb, J. Southwell, S. Chowdhury, L. K. Beitel, R. Lombroso, E. Purisima, M. Trifiro.

445/W The leukemia associated gene RUNX1T1 (MTG8/ETO) is involved in brain and heart development. L. A. Larsen, L. Zhang, G. Barbi, K. Møllgård, E. Bendsen, R. Møller, R. Ullmann, Z. Tümer, N. Tommerup.

446/W Midkine siRNA as anti-tumor molecules against osteosarcoma. H. Maehara, T. Kaname, K. Yanagi, H. Hanzawa, I. Owan, K. Naritomi, F. Kanaya.

447/W Genomic Heritage of Axillary Lymph Node Metastases in Breast Cancer Patients. H. L. Patney, T. E. Becker, B. Deyarmin, R. M. Jordan, J. A. Hooke, R. E. Ellsworth, C. D. Shriver, D. L. Ellsworth.

448/W Development and Validation of New Molecular Diagnostic Assays for the Jak2 V617F Screening and Quantification. O. Biglia, J. P. LeCouedic, S. Hermouet, F. Hermitte, N. Maroc.

449/W Autosomal recessive malignant paraganglioma associated with mutations in the succinate dehydrogenase B gene. C. A. Friedrich, S. Majumdar, C. A. Koch, G. W. Moll.

450/W A germline SDHB start codon mutation in a patient with abdominal paraganglioma and two renal cancers. K. Heimdal, A. Silye, S. Ariansen, S. Raicevic, T. Schreiner, H. Scott, O. J. Nilsen, A. Schultz, P. A. Andresen.

451/W KLHDC8B, a novel candidate Hodgkin lymphoma susceptibility gene, is targeted by Epstein-Barr virus microRNAs. M. E. Mealiffe, T. Kirchhoff, P. H. Wiernik, H. T. Lynch, M. Daibata, A.-M. Gerdes, W. H. Raskind, K. Offit, L. R. Goldin, M. S. Horwitz.

452/W MicroRNAs: negative Regulators of PTEN and Modifiers of Cowden Syndrome. M. G. Pezzolesi, K. A. Waite, C. Eng.

453/W Molecular Characterization of BRCA1 and BRCA2 genes in breast cancer mexican mestizo patients. S. Vidal, L. Taja-Chayeb, V. Rosas, O. Gutierrez, A. Dueñas.

454/W DNA Methylation as an Epigenetic Modifier in Li-Fraumeni Syndrome. C. D. Wilson, B. Zhang, L. L. Bachinski, L. C. Strong, R. Krahe.

455/W Single nucleotide polymorphisms of follicle-stimulating hormone receptor gene are associated with testicular cancer susceptibility. C. Foresta, M. Pengo, R. Selice, A. Garolla, A. Ferlin.

456/W APITD1, a tumor suppressor candidate gene with transcriptional inactivation and growth suppressive properties in the neuroblastoma deletion region on 1p36.2. C. Krona, H. Kryh, K. Ejeskär, L. Olsson, H. Carén, R.-M. Sjöberg, T. Martinsson.

457/W The molecular mechanism of radiation effect on human colorectal cancer cell lines by using oligonucleotide membrane arrays. C. W. Kuo, M. Y. Huang, S. R. Lin, J. Y. Wang.

458/W A Homozygous Splicing Mutation in PMS2 Causes Early Onset Tumors in an Inuit Family. L. Li, B. Balachandra, K. Baker, J. Jarry, L. Kasprzak, J. Zhu, G. Chong, J. R. Jass, W. D. Foulkes.

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

460/W Functional analysis of HNPCC related missense mutations in MSH6. J. Ou, R. Niessen, K. Kooi, J. H. Kleibeuker, R. H. Sijmons, R. M. W. Hofstra.

461/W Dosage-sensitive genome instability: a comprehensive genetic screen in Saccharomyces cerevisiae to identify heterozygous mutations that impact chromosome stability. S. E. Plon, E. D. Strome, X. Wu, M. Kimmel.

462/W Frequent loss of heterozygosity at the IRF-1 gene locus in breast cancer. L. R. Cavalli, R. B. Riggins, R. Clarke, B. R. Haddad.

463/W Expression profiling of primary prostate tumor free-relapse and primary prostate tumor with relapse using 44K whole human genome microarray. S. Jacolot, A. Valeri, G. Fournier, L. Doucet, A. Volant, G. Fromont, O. Cussenot, J. Leger, C. Férec.

464/W Personalized Monitoring For Breast Cancer Recurrence. Q. Liu, Z. Chen, C. Mroske, C. Yang, J. Yan, J. Feng, G. Somlo, M. Palomares, S. Sommer.

465/W Breast cancer risk and C677T thylenetetrahydrofolate reductase polymorphism in Mexican population. M. Gallegos, D. Ontiveros, J. Alfaro, A. M. Puebla.

466/W Genome-wide Linkage Analysis of Utah high-risk Melanoma Pedigrees using a high-density SNP genotyping set. L. A. Cannon-Albright, J. M. Farnham, S. A. Leachman.

467/W Fine Mapping of The 15q Glioma Susceptibility Locus And Candidate Gene Analysis. H. Jiao, N. Paunu, I. Fransson, H. Haapasalo, J. Kere.

468/W Reduced nuclear b-catenin may suppress intestinal tumorigenesis in Dnmt1 hypomorphic ApcMin/+ mice. M. Luo, M. A. Renelt, J. Chen, Y. Chen, B. Zheng, L. Wang, X. Hao, P. W. Laird, C. Shao, J. A. Tischfield.

469/W Introduction of prkar1a -/- Mouse Embryonic Fibroblasts in Nude Mice Leads to Tumor Formation: expression profiling reveals consistent alterations in Cell Cycle Regulation Genes. S. A. Boikos, C. Giatzakis, A. Robinson-White, K. Tsang, H. P. Hsiao, F. Wen, Y. Patronas, M. Nesterova, C. Stratakis.

470/W Absence of EGFR mutations in Papillary Renal Cell Carcinoma. S. J. Bender, B. Wondergem, K. Buzzitta, M. Avallone, P. Condit, M. Condit, A. Massie, S. K. Khoo, B. T. Teh.

471/W Absence of Ras and Raf mutations in Clear Cell Renal Cell Carcinoma. S. K. Khoo, K. Buzzitta, B. Wondergem, M. Avallone, P. Condit, M. Condit, A. Massie, S. J. Bender, B. T. Teh.

472/W Somatic TP53 mutations associated with microenvironmental genomic alterations and clinicopathological features in sporadic but not BRCA1/2-related breast carcinomas. P. Platzer, A. Patocs, L. Zhang, Y. Xu, F. Weber, T. Caldes, G. Mutter, C. Eng.

473/W Association of non-synonymous coding SNPs with risk of colon cancer. M. S. Cicek, S. L. Slager, T. C. Smyrk, K. C. Halling, K. G. Rabe, S. J. Achenbach, L. A. Boardman, D. J. Sargent, G. M. Petersen, J. R. Cerhan, S. N. Thibodeau, P. J. Limburg.

474/W Human PBX1 interacting protein (HPIP) promotes primitive hematopoietic cell growth. P. Kaur, N. Arseni, F. Ahmed, C. Abramovich, W. Hiddemann, K. R. Humpheries, C. Buske, M. Feuring-Buske.

475/W Integrated genetic and epigenetic studies of breast cancer progression and metastasis using Affymetrix SNP chips. M. Lee, N. Diaz-Meyer, M. Kadota, H. Yang, W. Lin.

476/W Frequent inactivation of NDRG2 by promoter hypermethylation in human colon cancers. A. Piepoli, R. Cotugno, G. Merla, A. Gentile, B. Augello, M. Quitadamo, A. Merla, M. Carella, R. Maglietta, N. Ancona, A. Andriulli, F. Perri.

477/W Analysis of FFPE Specimen for Somatic Mutations and Epigenetic Alteration. J. A. Durocher, K. B. Walters, S. Mahurkar, J. D. Karkera, M. L. Nickerson.

478/W Improved identification of von Hippel-Lindau gene alterations in DNA from clear cell renal tumors reveals a large percentage of mutations that appear to reside in a subpopulation of total tumor cells. M. L. Nickerson, J. A. Durocher, S. Mahurkar, K. B. Walters, J. D. Karkera.

479/W Overlap between WTX and WT1 mutations in Wilms tumors. E. C. Ruteshouser, N. Alam, S. M. Robinson, V. Huff.

480/W High-resolution SNP array analysis of epithelial ovarian cancer reveals numerous micro-deletions and amplifications. I. G. Campbell, E. R. Thompson, A. Sridhar, W. Qiu, S. Jacobs, D. Y. H. Choong, K. L. Gorringe.

481/W Selection underlies most doublet somatic EGFR mutations in lung cancer: about 1/3 occur at five amino acid pairs. Z. Chen, J. Feng, J. Saldivar, D. Gu, A. Bolkholt, S. Sommer.

482/W Apoptosis induced in human melanoma cells with a PAX3 antisense oligonucleotide is associated with downregulation of BCL2 and CDK2. M. R. Eccles, S. He, J. Ineson, H.-S. Yoon, C. G. Li, A. Jeffs, E. Marshall, B. Baguley.

483/W Disruption of clock genes confers a breast cancer phenotype. J. Esposito, S. Rossetti, F. Corlazzoli, N. Sacchi.

484/W Differential Expression of TGIF1 Homeobox Gene Transcripts Variants in Oral Squamous Cell Carcinoma: a Preliminary Study. T. N. Liborio, M. G. Silva-Valenzuela, L. F. Matizonkas-Antonio, J. Câmara, M. R. Tavares, F. D. Nunes.

485/W Nucleolar Localization of p19Arf Is Important for Tumor Suppressor Function During Transformation by the Abl Oncogene. R. Stackpole, N. Rosenberg.

486/W siRNA-mediated suppression of wildtype and low molecular weight forms of cyclin E protein in NIH-OVCAR-3 ovarian cancer cells. M. C. Todd, K. Meerbrey.

487/W The DNA damage signaling kinase ATM is aberrantly reduced or lost in BRCA1/BRCA2-deficient and ER/PR/HER2-triple-negative breast cancer. J. Tommiska, J. Bartkova, M. Heinonen, L. Hautala, O. Kilpivaara, H. Eerola, K. Aittomaki, J. Lukas, C. Blomqvist, A. Ristimaki, P. Heikkila, J. Bartek, H. Nevanlinna.

488/W Interleukin-10 Promoter Polymorphisms and Breast Cancer Risk in Iranian Women. R. Asadollahi, N. Hakakian, E. Kamali-Sarvestani, A. Talei.

489/W Identification of cSNPs in environmental response genes contributing to breast cancer etiology. R. Ellsworth, J. Weyandt, H. Patney, K. Anthony, C. Shriver.

490/W Dichloroacetate Induces Apoptosis via Metabolic Targeting in Endometrial Cancer Cells which Exhibit Aerobic Glycolysis. J. Y. Y. Wong, M. Debidda, I. De Vivo.

491/W Mutation showers over the DNA landscape. S. Sommer, J. Wang, K. Gonzalez, W. Scaringe, K. Tsai, N. Liu, D. Gu, W. Li, V. Buettner, K. Hill.

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Cardiovascular Genetics

1698/W Joint Effects of Interleukin 6 Pathway Genes and the Risk of Cardiovascular Disease. M. Alanne, K. Auro, K. Kristiansson, K. Silander, K. Kuulasmaa, J. Saarela, L. Peltonen, V. Salomaa, M. Perola.

1699/W OSBPL11 Gene Polymorphisms are Associated with Obesity-Related Metabolic Complications and Diabetes in Obese Individuals. L. Bouchard, G. Faucher, A. Tchernof, Y. Deshaies, S. Marceau, O. Lescelleur, S. Biron, M.-C. Vohl.

1700/W Evidence Of Common Genetic Determinants For Insulin Resistance And Thrombosis. J. Cui, X. Guo, K. D. Taylor, S. Cheng, R. Hughes, J. Li, W. Hsueh, J. I. Rotter.

1701/W Myeloperoxidase gene variations are associated with low-density-lipoprotein characteristics. G. Dolley, B. Lamarche, J.-P. Després, C. Bouchard, L. Pérusse, M. C. Vohl.

1702/W Mutations of FOG2 gene in patients with septal and conotruncal defects. D. Y. Gibbs, P. C. Paluru, S. Woyciechowski, E. Goldmuntz.

1703/W Inflammatory genes confer risks of subclinical carotid atherosclerosis. Y. C. Guo, H. F. Lin, E. Hsi, T. Rundek, R. L. Sacco, S. H. Juo.

1704/W Phosducin, a novel candidate gene for human essential hypertension. M. D. Harrison, M. Stoll, K. Maresso, R. Lorier, E. Virlee, L. Hein, P. Hamet, D. Gaudet, O. Seda, J. Tremblay, M. Kaldunski, T. Kotchen, A. W. Cowley, U. Broeckel.

1705/W Association of TCF7L2 variants with high serum triglycerides in Mexican dyslipidemic families. A. Huertas-Vazquez, T. Tusie-Luna, E. Nikkola, C. Aguilar-Salinas, P. Pajukanta.

1706/W Association of polymorphism of the liver X receptor gene with angina pectoris in the Japanese population. M. Inoue, R. Uemura, T. Ikezaki, S. Kobayashi, S. Ikeda, S. Kohno, K. Tsukamoto.

1707/W Independent genetic mechanisms downregulate genes involved in catecholamine biosynthesis, storage and secretion in the spontaneously hypertensive rat. M. L. Jirout, R. S. Friese, N. R. Mahapatra, M. Mahata, S. K. Mahata, M. Pravenec, V. Kren, N. Hubner, T. J. Aitman, M. G. Ziegler, N. J. Schork, D. T. O'Connor.

1708/W Concept and design of a custom 50K SNP array for large-scale interrogation of vascular disease cohorts. B. J. Keating, T. Bhangale, T. S. Price, S. S. Tischfield, J. C. Barrett, P. I. W. de Bakker, M. Fornage, D. A. Nickerson, M. I. McCarthy, S. S. Anand, J. C. Engert, S. B. Gabriel, D. J. Rader, J. N. Hirschhorn, G. A. FitzGerald.

1709/W De novo submicroscopic deletion of 20p12.3 involving BMP2 gene in an individual with Wolff-Parkinson-White syndrome—Identifying a new locus for WPW. S. R. Lalani, X. Wang, W. Bi, M. S. Bray, C. Shaw, J. Towbin, R. A. Friedman, G. Zapata, A. Pursley, S. W. Cheung, J. W. Belmont, L. Potocki.

1710/W Multiple genetic determinants of plasma lipid levels in Caribbean Hispanics. Y. C. Liao, H. F. Lin, T. Rundek, R. Cheng, E. Hsi, R. L. Sacco, S. H. Juo.

1711/W Conditional linkage with the UGT1A1 gene and whole-genome association studies of serum bilirubin. J.-P. Lin, J. P. Schwaiger, L. A. Cupples, C. J. O'Donnell, G. Zheng, V. Schoenborn, S. C. Hunt, F. Kronenberg.

1712/W Association of a VEGF functional allele with cardiac atrioventricular septal defects and a possible genetic interaction with CRELD1 mutations. C. L. Maslen, D. Babcock, C. D. Morris, S. Sherman, L. J. H. Bean, K. V. Dooley, E. Feingold.

1713/W Essential Hypertension is associated to several worldwide genetic factors in a Sardinian genetic isolate. E. Mocci, V. Cabras, N. Pirastu, M. P. Concas, C. Fraumene, M. Adamo, I. Persico, G. Biino, M. Pirastu, A. Angius.

1714/W Novel HEY2 mutations in patients with left sided cardiac defects. P. C. Paluru, N. Navabi, J. Garbarini, E. Goldmuntz.

1715/W Frequency and function of an Asian specific novel CETP variant. J. M. Reynolds, D. L. Lloyd, S. P. Williams, L. S. Wood, J. T. Thompson.

1716/W Genetic variants of Clock transcription factor are associated with individual susceptibility to obesity. S. Sookoian, C. Gemma, T. Fernández Gianotti, A. Burgueño, C. J. Pirola.

1717/W Comprehensive Genetic Analysis of the Platelet Activating Factor Acetylhydrolase Gene and Cardiovascular Disease in Case/Control and Family Datasets. B. Sutton, D. Crosslin, S. Shah, S. Nelson, A. Bassil, A. Hale, C. Haynes, P. J. Goldschmidt-Clermont, J. Vance, W. Kraus, S. Gregory, E. Hauser.

1718/W A multi-stage evaluation of genetic association with early-onset CAD in MYLK gene. J. Vance, L. Wang, E. R. Hauser, D. Crosslin, S. Nelson, A. B. Hale, S. G. Gregory, S. H. Shah, W. E. Kraus, P. J. Goldschmidt-Clermont, GENECARD Investigators.

1719/W Genomic convergence identified CAPG and VAMP8 as candidate genes for coronary artery disease. L. Wang, E. R. Hauser, D. Crosslin, S. Nelson, A. B. Hale, S. G. Gregory, S. H. Shah, D. Seo, W. E. Kraus, P. J. Goldschmidt-Clermont, J. M. Vance, GENECARD Investigators.

1720/W USF1 influences lipid and metabolic traits in subjects with FCHL and CAD in a sex-dependent manner. D. Weissglas, J. C. Lee, J. S. Sinsheimer, T. W. A. de Bruin, A. J. Lusis, M. Brennan, M. M. J. van Greevenbroek, C. J. H. van der Kallen, S. L. Hazen, P. Pajukanta.

1721/W Haplotype diversity in the angiotensinogen and Beta-1 adrenergic receptor in Mexican Mestizo populations. E. Balam, K. Carrillo, A. Contreras, L. Alfaro, G. Jimenez-Sanchez.

1722/W Novel familial duplication 10q23.2-q23.32: clinical manifestations and further delineation of chromosome 10q22-24 atrial fibrillation locus. J. Buchholz, H. Ardinger, R. Ardinger.

1723/W SNPs at the INSIG2 Locus are Associated with Plasma Lipid Phenotypes. R. Do, G. Paré, A. Montpetit, S. D. Bailey, K. Desbiens, T. J. Hudson, C. Bouchard, L. Perusse, M. C. Vohl, D. Gaudet, J. C. Engert.

1724/W Alpha cardiac actin mutations cause atrial septal defects. J. S. Eason, H. Matsson, C. S. Bookwalter, J. Klar, P. Gustavsson, J. Sunnegårdh, H. Enell, A. Jonzon, M. Vikkula, I. Gutierrez, J. T. Granados Riveron, M. Pope, F. Bu'lock, J. Cox, T. E. Robinson, F. Song, J. D. Brook, S. Marston, K. M. Trybus, N. Dahl.

1725/W Genetic variants associated with myocardial infarction (MI) risk in five ethnic groups: the INTERHEART genetics study. J. C. Engert, C. Xie, A. Montpetit, D. Serre, B. Keavney, H. Cordell, M. McQueen, S. Yusuf, T. J. Hudson, S. S. Anand for the INTERHEART Genetics Investigators.

1726/W Adjustment for sex and age may conceal significant sex- and age- specific genomic determinants of physiological traits. P. Hamet, O. Seda, D. Gaudet, P.-L. Brunelle, A. Gurau, E. Merlo, L. Pilote, T. Kotchen, A. W. Cowley, J. Tremblay.

1727/W Association of Renin gene polymorphisms with Essential Hypertension in Koreans. E. Kim, J. Kim, J. Han, C. Park, D. Shin, Y. Jang, B. Han, S. Yoon.

1728/W Positional cloning of genes influencing blood pressure on chromosome 2q31-q36 in the Old Order Amish. P. F. McArdle, Y. Wang, S. Rutherford, J. R. O'Connell, S. H. Ott, L. J. Reinhart, T. I. Pollin, C. Damcott, Y. C. Chang, B. D. Mitchell, A. R. Shuldiner, N. I. Steinle.

1729/W Assessment of genes involved in inflammation in coronary artery disease in Asian Indians. N. U. Mehta, G. Mendoza-Fandino, T. J. Pemberton, J. Hartiala, D. Conti, P. Kotha, H. Allayee, P. I. Patel.

1730/W Variants in the LDL receptor gene are associated with LDL cholesterol in the Multi-Ethnic Study of Atherosclerosis. W. Post, J. C. Mychaleckyj, L. Raynor, K. D. Taylor, X. Guo, K. E. Watson, C. Hedrick, J. Polak, M. Tsai, S. S. Rich, J. I. Rotter, J. S. Pankow.

1731/W Family-based association studies of congenital heart defects. L. Scheinfeldt, E. Goldmuntz, J. Campanile, M. Devoto, D. A. Driscoll.

1732/W Copy Number Variation in Individuals with Hypoplastic Left Heart. J. T. C. Shieh, G. M. Shaw, D. Srivastava.

1733/W Polymorphisms in the Tissue Plasminogen Activator gene (PLAT) are associated with multiple measures of coronary artery disease. A. V. Smith, T. Aspelund, L. Launer, T. Harris, V. Gudnason.

1734/W Identification of a modifier gene in heart failure. F. C. Wheeler, T. N. Hadnott, O. Marks, M. P. Donahue, H. A. Rockman, D. A. Marchuk.

1735/W SNPs in SCN5A for risk of arrhythmias in the context of myocardial infarction. Q. Xi, L. Li, Q. K. Wang.

1736/W Association of SLC34A2 and Sodium-Lithium Countertransport. X. Zheng, C. M. Kammerer, L. A. Cox, A. Morrison, R. E. Ferrell.

1737/W Novel KCNH2 Mutation in an Iranian Family with LQTS. K. Banihashemi, S. Saber, E. Zaklyazminskaya, M. Houshmand, M. Eftekharzadeh, M. Rostami, T. Majidizadeh, M. Dehghan.

1738/W Analysis of single nucleotide polymorphisms and haplotypes in TBX20 gene within the susceptible region 7p14-15 of Fallot's tetralogy. G. R. Qiu, N. Xin, L. G. Gong, Y. H. Yuan, X. M. Han, H. B. Liu, X. Y. Xu, K. L. Sun.

1739/W New role for the neuropeptide galanin in regulation of triglyceride levels. M. Kyttala, C. L. Plaisier, A. Huertas-Vazquez, B. Aouizerat, T. W. A. de Bruin, C. Aguilar-Salinas, T. Tusie-Luna, M.-R. Taskinen, C. van der Kallen, P. Pajukanta.

1740/W Analysis of genetic variation in the SCN5A sodium channel for association to common forms of arrhythmias. C. Lefebvre, E. Lizotte, P. Goyette, M. J. Junttila, H. V. Huikuri, R. Brugada, J. D. Rioux.

1741/W Genetic variants in selenoprotein S are associated with inflammatory biomarkers and vascular calcified plaque in families from the Diabetes Heart Study. A. B. Lehtinen, Y. Liu, J. T. Ziegler, C. D. Langefeld, B. I. Freedman, J. J. Carr, D. W. Bowden.

1742/W Association between ACE pathway genes and carotid atherosclerosis in the Multi-Ethnic Study of Atherosclerosis (MESA). X. Li, Y. Chen, T. Howard, J. Mychaleckyj, Y. I. Chen, S. J. Shea, J. Polak, J. R. Rotter.

1743/W High-Density Association Analysis of the CETP Locus and HDL-C in Families of African Ancestry. I. Miljkovic-Gacic, X. Wang, C. Kammerer, C. Nestlerode, L. Yerges, A. Kuipers, L. Goodrich, L. Kuller, C. Bunker, A. Patrick, V. Wheeler, R. Evans, J. Zmuda.

1744/W Association of Polymorphisms in Cyclooxygenase (COX)-2 with Coronary and Carotid Calcium in the Diabetes Heart Study. M. E. Rudock, J. Ziegler, S. G. Allen, A. B. Lehtinen, J. J. Carr, C. D. Langefeld, D. W. Bowden, Y. Liu.

1745/W Combined effect of hemostatic gene polymorphisms and the risk of myocardial infarction in patients with advanced coronary atherosclerosis. E. Trabetti, M. Biscuola, N. Martinelli, U. Cavallari, M. Pinotti, O. Olivieri, S. Cheng, M. Sandri, S. Friso, F. Pizzolo, C. Bozzini, P. Caruso, F. Bernardi, R. Corrocher, D. Girelli, P. F. Pignatti.

1746/W Study of Genetic Susceptibility to Myocardial Infarction in a Genetic Isolated NF Population. Y. G. Xie, J. X. Ciu, E. Randell, J. Renouf, G. Sun, C. Butt, F. Y. Han.

1747/W Evidence that a region of chromosome 10 linked to sodium-lithium countertransport also influences plasma triglyceride level. K. L. E. Klos, R. Ferrell, A. C. Morrison.

1748/W Molecular genetic analysis of long QT syndrome patients and identification of one novel mutation in KCNH2. X. Zhang, S. Chen, L. Zhang, C. Oberti, G. M. Vincent, Q. K. Wang.

1749/W Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm. K. C. Kent, M. L. Loscalzo, D. L. M. Goh, A. L. Cutting, H. C. Dietz.

1750/W A Genetic Association Between Angiotensinogen Genotype and Plasma Angiotensinogen Endophenotype in CEPH Families. W. S. Watkins, W. Tolpinrud, A. Rohrwasser, Y. Zhang, A. Peiffer, M. Leppert, J.-M. Lalouel, L. B. Jorde.

1751/W Fine mapping of a chromosome 16 locus associated with low high-density lipoprotein cholesterol level (HDL-C) in French Canadians. Z. Dastani, M. Marcil, J. C. Lee, P. Pajukanta, D. Gaudet, J. Genest, J. C. Engert.

1752/W Association of AGGF1 gene polymorphisms with susceptibility for Klippel-Trenaunay syndrome. Y. Hu, S. B. Seidelmann, L. Li, A. A. Timur, D. J. Driscoll, Q. K. Wang.

1753/W Systematic evaluation of genetic defects in 220 patients with Tetralogy of Fallot. A. Rauch, R. Rauch, S. Zink, C. Zweier, C. Purmann, J. Hoyer, P. Nürnberg, A. Reis, H. Singer, M. Hofbeck.

1754/W FTO genotypes and weight gain in early life in two prospective birth cohort studies from Finland and the UK. M.-R. Jarvelin, P. Elliott, T. M. Frayling, R. M. Freathy, U. Sovio, A. J. Bennett, A. Ruokonen, A. Pouta, J. Laitinen, A.-L. Hartikainen, D. A. Lawlor, E. Zeggini, C. M. Lindgren, S. M. Ring, A. R. Ness, A. T. Hattersley, M. I. McCarthy, G. Davey Smith, N. J. Timpson.

1755/W MTHFR and E-selectin gene polymorphism towards genetic predisposition of coronary artery disease (CAD). R. Tripathi, S. Agarwal.

1756/W Promoter polymorphism of iNOS gene and their influence on essential hypertension in Chinese. Y. Zhao, L. Fu, Y. Gao, J. Shi, J. Liu, M. Qi, H. Liu.

1757/W Whole genome maps of USF1 and USF2 binding and histone 3 acetylation reveal new aspects of promoter structure and candidate genes for common human disorders. C. Wadelius, A. Rada Iglesias, A. Ameur, P. Kapranov, S. Enroth, J. Komorowski, T. Gingeras.

1758/T Cigarette Smoking Modulates Genetic Effects on Chromosome 3q13-21 in Early-Onset Coronary Artery Disease. B. D. Horne, L. Wang, J. B. Muhlestein, J. L. Anderson, J. F. Carlquist, E. R. Hauser, S. Shah, W. E. Kraus, J. M. Vance, P. J. Goldschmidt-Clermont.

1759/T Daily physical activity modifies the association between endothelial nitric oxide synthase gene variant and blood pressure. V. Karani Santhanakrishnan, P. W. Franks, I. Barroso, S. Brage, U. Ekelund, N. J. Wareham, R. J. F. Loos.

1760/T CD36 as a Candidate Gene for the Metabolic Syndrome. L. Love-Gregory, R. Sherva, L. Sun, J. Wasson, R. Neuman, M. A. Permutt, N. A. Abumrad.

1761/T Mutation screening of NOTCH pathway genes in individuals with left ventricular outflow tract defects. K. L. McBride, G. Zender, S. M. Fitzgerald-Butt, S. D. Fernbach, J. A. Towbin, J. W. Belmont.

1762/T Genetic studies in Korean patients with cardiac outflow tract anomalies. E. J. Seo, M. Hong, K. J. Kim, Y. H. Kim, J. K. Ko, I. S. Park.

1763/T Homozygous mutation in desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy. D. Ahnood, M. A. Simpson, S. Mansour, E. R. Behr, A. H. Crosby.

1764/T Circulating endothelial progenitor cells are elevated in pulmonary arterial hypertension and show distinct expression profiles consistent with increased endothelial lineage commitment. M. A. Aldred, K. Asosingh, S. C. Erzurum.

1765/T The NFKbia gene is a novel PPAR Cardiac target gene. N. Buroker, J.-Y. Huang, M. Ge, X.-H. Ning, M. Portman.

1766/T KCNQ1 V205M missense mutation causes LQTS in a Northern Canadian community. J. Eldstrom, S. Rezazadeh, R. Rupps, S. Sanatani, B. Casey, G. Tibbits, D. Fedida, L. Arbour.

1767/T First 503 Human Subjects of "Genetics of Left Ventricular Outflow Tract Malformation" Study. S. M. Fitzgerald-Butt, G. A. Zender, K. L. McBride.

1768/T 5-lipoxygenase (5-LO), dietary arachidonic acid (AA), and risk of myocardial infarction (MI). J. Hartiala, A. Baylin, H. Wijesuriya, G. Mendoza-Fandino, P. I. Patel, H. Campos, H. Allayee.

1769/T Familial Noncompaction Cardiomyopathy: a Novel Genetic Cardiomyopathy. Y. M. Hoedemaekers, K. Caliskan, F. J. ten Cate, M. Michels, D. Dooijes, D. F. Majoor - Krakauer.

1770/T KRAS and SOS1 mutations in Noonan and related syndromes. K. Kalidas, A. H. Crosby, S. Jeffery, A. Shaw, M. A. Patton.

1771/T Evc and Lbn are co-expressed in structures affected by Ellis van Creveld Syndrome. K. Lipscomb Sund, D. W. Benson.

1772/T Association of the endothelial nitric oxide synthase gene polymorphism (4a/4b) with the risk of coronary artery disease in mexican population. R. P. Mariaud, M. Zuñiga, M. P. Gallegos.

1773/T Circulating TGF-beta as a prognostic and therapeutic biomarker in Marfan syndrome. P. Matt, J. Habashi, T. Holm, E. Klein, M. Gamradt, D. Huso, J. Van Eyk, H. Dietz.

1774/T Copy Number Variations in del22q11.2 Syndrome. S. McGhee, M. Suchard, E. R. B. McCabe.

1775/T The Intermountain Genealogical Registry: initial Evaluation of a Population Genealogy for an Outbred Continental Population. J. B. Muhlestein, J. L. Anderson, T. L. Bair, D. G. Renlund, A. G. Kfoury, D. L. Lappe, J. F. Carlquist, R. R. Pearson, H. T. May, M. S. Hammad, B. D. Horne.

1776/T Genome-wide association study of QT interval duration and staged validation. C. Newton-Cheh, X. Yin, A.-J. L. H. J. Aarnoudse, P. I. W. de Bakker, A. Surti, A. G. Uitterlinden, M. G. Larson, B. H. C. Stricker, C. J. O'Donnell, J. N. Hirschhorn.

1777/T 52,608 gene-based SNPs association study to identify genes related to myocardial infarction. K. Ozaki, H. Sato, A. Iida, H. Mizuno, A. Takahashi, T. Nakamura, H. Lwin, S. Ikegawa, M. Hori, Y. Nakamura, T. Tanaka.

1778/T Chromosome 22q11 deletion syndrome: is MTHFR a modifier of the cardiovascular phenotype? G. M. Repetto, J. F. Calderon, M. L. Guzman, A. Puga, C. P. Astete, M. Aracena, C. Mellado, T. Aravena, M. Arriaza, P. Sanz.

1779/T Mutation of Nkip1 in bovine cardiomyopathy woolly haircoat syndrome. P. Solanki, M. A. Simpson, R. Cook, A. H. Crosby.

1780/T Detection of 7q11.23 microdeletion in a Williams-Beuren syndrome patient carrying a severe supravalvular pulmonar stenosis and mild supravalvular aortic stenosis. I. Trabelsi, M. Cherif, S. Kammoun, T. Rebai, N. B. Abdelmoula.

1781/T The novel mitochondrial DNA A4401G mutation is involved in left ventricular hypertrophy in one Han Chinese pedigree. S. Wang, H. Zhu, R. Li, L. Yang, Y. Liu, Z. Li, M. X. Guan.

1782/T Population-based and case-control whole genome association studies confirms known genes and identifies novel transcription factors associated with atherogenic dyslipidemia. D. Waterworth, K. S. Song, X. Yuan, Y. A. Kesaniemi, R. McPherson, R. Mahley, T. Bersot, P. Barter, D. K. Burns, E. H. Lai, P. Vollenweider, L. T. Middleton, A. D. Roses, S. M. Grundy, G. Waeber, V. E. Mooser.

1783/T Genome-wide association scan for HDL cholesterol, LDL cholesterol and triglyceride levels in 9,000 individuals. C. J. Willer, A. Scuteri, L. L. Bonnycastle, S. Sanna, A. U. Jackson, A. Maschio, W. L. Duren, F. Busonero, R. Pruim, R. M. Watanabe, S. S. Najjar, L. J. Scott, M. Uda, J. Tuomilehto, G. R. Abecasis, F. S. Collins, D. Schlessinger, K. L. Mohlke, E. G. Lakatta, Diabetes Genetics Initiative.

1784/T Clinical Genetic Approach for Evaluation of Noncompaction Cardiomyopathy. M. V. Zaragoza, R. Cox.

1785/T Functional characterization of mutations causing disease in Familial Hypercholesterolemia. A. C. Alves, S. Silva, M. A. Duarte, D. Patel, A. M. Medeiros, A. K. Soutar, M. Bourbon.

1786/T Extension of the clinical spectrum of Danon disease. R. H. Lekanne Deprez, A. J. van der Kooi, I. M. van Langen, E. Aronica, P. A. van Doorn, J. H. J. Wokke, E. Brusse, C. T. Langerhorst, P. Bergin, L. R. C. Dekker, M. Visser.

1787/T Auto-regulation of GTF2IRD1 contradicts its proposed role in the causes of William syndrome. S. J. Palmer, N. Santucci, E. S. Tay, J. W. Hook, F. A. Lemckert, P. W. Gunning, E. C. Hardeman.

1788/T High heritabilities of novel cardiovascular biomarkers in a large multigenerational family. S. H. Shah, D. Thompson, H. Chen, T. Stabler, C. Haynes, B. Lambertson, S. Nelson, E. Dowdy, E. R. Hauser, W. E. Kraus, V. B. Kraus.

1789/T Analysis of four susceptibility SNPs on chromosome 9p21 between Italian MI patients and controls. G.-Q. Shen, L. Lin, D. Girelli, O. Olivieri, R. Corrocher, Q. K. Wang.

1790/T CYP gene polymorphism is associated with essential hypertension in Koreans. D. Shin, J. Han, Y. Bae, J. Ahn, S. Park, D. Choi, J. Ha, Y. Jang.

1791/T Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Missense Variant is Reproducibly Associated with Early-Onset Myocardial Infarction in >1500 Cases and 1500 Controls. A. Surti on behalf of The Myocardial Infarction Genetics Consortium.

1792/T A search for genetic variants attributing to the risk of formation of intracranial aneurysms. K. Yasuno, A. Tajima, T. Cui, A. Narita, I. Inoue.

1793/T Efficient Identification of Novel Developmental Cardiac Genes Through Transcriptional Profiling of Differentiating Mouse Embryonic Stem Cells. R. Miller, N. Christoforou, J. Gearhart, A. McCallion.

1794/T Long QT syndrome patients with double heterozygous and compound heterozygous mutations. J. Thistleton, K. Livesey, K. Thomson, H. Lord, E. Blair, A. Seller.

1795/T A fast-throughput service for Familial Hypertrophic and Dilated Cardiomyopathy using High resolution melt curve analysis on the Lightscanner. M. Wilson, J. Thistleton, K. Thomson, J. Livesey, J. McKinney, E. Blair, H. Watkins, A. Seller.

1796/T Genotype-by-diet interaction analysis of paraoxonase 1 reveals a QTL on chromosome 17. V. P. Diego, H. H. H. Goring, D. L. Rainwater, S. A. Cole, T. D. Dyer, J. T. Williams, J. W. MacCluer, M. C. Mahaney, J. Blangero.

1797/T Identification of major QTLs and positional candidate genes for gene by smoking interactions in hypertension and blood pressure traits. M. E. Montasser, L. C. Shimmin, M. S. Leduc, C. L. Hanis, E. Boerwinkle, J. E. Hixson.

1798/T Interaction between familial history of obesity and dietary fat intakes on obesity-related phenotypes. A. M. Paradis, G. Godin, L. Pérusse, M. C. Vohl.

1799/T Physical activity modifies the genetic effect of common variants in the FTO gene with body mass index (BMI). E. Rampersaud, B. D. Mitchell, M. Fu, H. Shen, T. I. Pollin, J. L. Ducharme, A. R. Shuldiner, S. Snitker.

1800/T Genome wide association analysis identifies SNPs near MMP1 and MMP3 as being strongly associated with matrix metalloproteinase-1 (MMP1) levels: The Amish Heredity and Phenotype Intervention (HAPI) Heart Study. Y. Cheng, W. H. L. Kao, A. R. Shuldiner, B. D. Mitchell, P. F. McArdle, H. Shen, K. Ryan, T. I. Pollin.

1801/T A genome-wide association study of brachial flow mediated dilation identifies novel candidate genes. A. Parsa, E. Rampersaud, B. D. Mitchell, R. Horenstein, P. F. McArdle, H. Shen, J. R. O'Connell, R. Vogel, A. R. Shuldiner.

1802/T Modifying effects of age, QTc interval, and androgen receptor gene variation in patients with hypertrophic cardiomyopathy. J. M. Lind, C. Chiu, J. Ingles, N. Cochrane, S. E. Humphries, A. K. Heather, C. Semsarian.

1803/T Genome-wide scan in affected sibling pairs identifies two novel susceptibility regions for venous thrombosis. M. C. H. de Visser, R. van Minkelen, V. van Marion, J. C. J. Eikenboom, H. L. Vos, P. E. Slagboom, J. J. Houwing-Duistermaat, R. M. Bertina.

1804/T Heterozygous mutations in the carnitine transporter gene SLC22A5 are not associated with cardiomyopathy. C. Amat di San Filippo, M. R. G. Taylor, L. Mestroni, L. D. Botto, N. Longo.

1805/T Genotype-phenotype relationships in desminopathy. H. Lee, A. Shatunov, M. Olivé, P. Vicart, A. Kaminska, K. Bushby, F. Muntoni, M. Dalakas, H. Goebel, L. Goldfarb.

1806/T Large genomic FBN1 deletions detected by MLPA and SNP arrays provide evidence for true haploinsufficiency in Marfan syndrome. G. Matyas, S. Alonso, A. Patrignani, M. Marti, E. Arnold, I. Magyar, C. Henggeler, T. Carrel, B. Steinmann, W. Berger.

1807/T Reverse-hybridization-based genetic testing for the prediction of anticoagulant dose requirement. H. Puehringer, C. Stoellberger, Q. Berisha, A. Dossenbach-Glaninger, W. Krugluger, C. Oberkanins.

1808/T Truncating BMPR2 mutation in a patient with pulmonary arterial hypertension and hereditary hemorrhagic telangiectasia. C. M. Rigelsky, R. Lehtonen, C. Eng, M. A. Aldred.

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Clinical Genetics, Malformations and Dysmorphology

492/T Dissociation between Gonadarche and Adrenarche in Patients with Glycogen Storage disease type 1a. C. A. Stratakis, S. A. Boikos.

493/T Robert syndrome in siblings, associated with ESCO2 gene mutation: outstanding intrafamilial variability of the clinical spectrum and the natural history. M. Giovannucci Uzielli, G. Scarselli, H. Vega, E. Lapi, S. Stagi, N. Dayan, A. Zeffiri, M. Isoldi, S. Guarducci, L. Giunti.

494/T High Frequency Of Central Nervous System Malformations Associated With Choanal Atresia. T. A. Burrow, H. M. Saal, R. J. Hopkin.

495/T Early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome) is caused by a longer polyalanine expansion mutation in the ARX gene. M. Kato, S. Saitoh, A. Kamei, H. Shiraishi, Y. Ueda, M. Akasaka, J. Tohyama, N. Akasaka, S. Kumada, M. Kubota, K. Nakamura, K. Hayasaka.

496/T No association of sudden infant death syndrome with congenital central hypoventilation syndrome (Ondine's curse). M. Osawa, A. Sasaki, F. Satoh, I. Hasegawa, R. Kimura, K. Hayasaka.

497/T Identification of a novel IRF6 variant in a Chinese family with Van der Woude Syndrome. E. C. Tan, E. C. P. Lim, J. Cheng, V. Yeow.

498/T Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2, a plausible candidate gene. D. H. Tegay, K. K. Chan, L. Leung, C. Wang, G. Stone, R. Stanyon, H. V. Toriello, E. Hatchwell.

499/T Balancing gene dosage and ventricular outflow—contrasting cardiac malformations in deletion 17p11.2 syndrome (SMS) vs duplication 17p11.2 syndrome (PLS). L. Potocki, J. A. Towbin, D. Dang, J. W. Belmont, J. R. Lupski.

500/T The Spectrum of Deletions in Kearns Sayre Syndrome. T. Prior, R. E. Pyatt.

501/T Williams syndrome "PLUS": a 4MB deletion identified in a patient with Williams syndrome, congenital anomalies and severe developmental delay. T. Narumanchi, X. Hu, C. Dvorak, D. Mercer, H. Andersson, M. Li.

502/T Noonan and Cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. M. L. Bondeson, A. M. Nystrom, S. Ekvall, M. Olsson-Engman, H. Enell, G. Anneren.

503/T Crisponi Syndrome and Cold-Induced Sweating Type 1: two Syndromes - One Genetic Entity. L. Crisponi, A. Meloni, M. Marongiu, F. Chiappe, M. Deiana, L. Marcia, G. Zampino, P. Nürnberg, G. Crisponi, F. Rutsch.

504/T From Stüve-Wiedemann syndrome to Crisponi syndrome. N. Dagoneau, S. Bellais, B. Leheup, P. Blanchet, P. Sarda, L. I. Al Gazali, M. Di Rocco, A. Munnich, V. Cormier-Daire.

505/T Molecular bases and clinical delineation of the Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. L. de Pontual, M. Rio, R. Redon, V. Malan, N. Boddaert, P. Plouin, N. P. Carter, S. Lyonnet, A. Munnich, L. Colleaux, J. Amiel.

506/T Detailed analysis of the 17p11.2 region in 59 patients with Smith-Magenis syndrome. M. Huizing, H. Edwards, C. Ciccone, M. P. Jones, S. C. Chandrasekharappa, C. Bendavid, J. Blancato, W. A. Gahl, A. C. M. Smith.

507/T Is Keutel syndrome genetically heterogeneous? B. Moghaddam, A. Yuksel, M. Bober, K. Bolton, S. Chan, J. Liu, C. Nauta, J. A. Rousseau, S. A. Boyadjiev.

508/T Genome stability in SMC1A-mutated Cornelia de Lange Syndrome patients. A. Musio, M. Paulis, M. Deardoff, M. L. Focarelli, K. Maninder, I. Krantz, P. Vezzoni.

509/T Identification of new loci responsible for an SMS-like phenotype using whole genome array CGH. S. R. Williams, S. Girirajan, D. B. Shin, N. Nowak, D. Tegay, R. Fisher, E. Hatchwell, S. H. Elsea.

510/T Duplication 9p and Prader-Willi syndromes in an infant resulting from a de novo unbalanced 9;15 translocation. M. T. Carter, F. D. Jacob, R. Ray, J. E. Allanson.

511/T Congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: genotype -phenotype correlations. A. de Klein, M. Klaassens, B. Eussen, R. Galjaard, D. Scott, B. Lee, B. Oostra, D. Tibboel.

512/T Delineation of a de novo chromosome 19(p13.1p13.2) duplication using comparative genomic hybridization (CGH). A. Iglesias, M. J. Macera, J. Breshin, F. Cohen, A. Babu.

513/T Molecular cytogenetic analysis of a der(17)t(10;17)(q24;q25) chromosome in a child, by CGH. M. J. Macera, G. Kupchik, S. Kinshpun, J. Breshin, F. Cohen, A. Babu.

514/T Duplication of chromosome 12q24.11q24.23 identified by array-CGH in a patient with Noonan syndrome. A. Patel, O. Shchelochkov, J. Wiszniewska, G. Weissenberger, P. Fernandes, A. C. Chinault, M. K. Kukolich, C. Eng, S. W. Cheung, V. R. Sutton.

515/T Identification of a novel microdeletion involving the entire NEMO gene at Xq28 in a patient with Incontinentia Pigmenti. D. del Gaudio, P. A. Ward, L. L. Meyers, R. A. Lewis, D. L. Nelson, P. Fang, C. M. Eng.

516/T Molecular characterization of deletion breakpoints in the CREBBP gene. D. Simon, C. Rooryck, M. Stef, D. Lacombe, I. Coupry, B. Arveiler.

517/T A WT1 exon 6 truncation mutation causes ambiguous genitalia in a patient with Denys-Drash syndrome. A. Tsai, P. Chiang, S. Kopinsky, E. Spector.

518/T Chromosome 22q11 instability: deletion and duplication in the same family. S. C. Saitta, G. R. Jalali, D. M. McDonald-McGinn, E. H. Zackai, B. S. Emanuel.

519/T Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of mutation at SOX9 and RSPO1 loci. S. G. Temel, T. Gulten, T. Yakut, H. Saglam, N. Kilic, E. Bausch, W. J. Jin, M. Leipoldt, O. Radi, G. Camerino, G. Scherer.

520/T Mutation spectrum of the RAS/MAPK pathway genes in Noonan, Costello and cardio-facio-cutaneous syndromes. Y. Aoki, T. Niihori, Y. Narumi, H. Cavé, A. Verloes, H. Kawame, K. Kurosawa, H. Ohashi, N. Okamoto, G. Neri, R. C. M. Hennekam, G. Gillessen-Kaesbach, D. Wieczorek, M. I. Kavamura, L. Wilson, K. Nishio, I. Kondo, P. Lapunzina, S. Kure, Y. Matsubara.

521/T The Phenotypic Association of Transverse and Central Ray Limb Deficiencies. A. M. Elliott, J. A. Evans.

522/T Colobomatous microphthalmia and a cyst associated with a nonsense NF2 gene mutation. T. Mononen, K. Kaarniranta, K. Tuppurainen.

523/T Atypical pattern of multiple malformations: pseudo-trisomy 13 syndrome with syngnathia? C. C. Rebelo, C. M. Lourenço, L. C. Peres, J. M. Pina-Neto, V. E. F. Ferraz.

524/T Hax1 gene mutation in an Iranian family affected to Kostmann disease and result of PND in the 5th pregnancy. G. Vakili, Y. Shafeghati, H. Abolghasemi, M. Horwitz.

525/T Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal syndromic microphthalmia. C. Golzio, N. Chassaing, J. Martinovic-Bouriel, S. Thomas, S. Mougou-Zrelli, B. Bessières, S. Odent, M. Bonnière, S. Delahaye, P. Calvas, A. Munnich, F. Encha-Razavi, S. Lyonnet, M. Vekemans, T. Attiß-Bitach, H. C. Etchevers.

526/T Neural crest migration defects underlie craniofacial dysmorphology in Bardet-Biedl syndrome. J. L. Tobin, M. Franco, E. Eichers, H. May-Simera, M. Garcia, J. Yan, M. Justice, J. Briscoe, R. Mayor, R. Lupski, P. Hammond.

527/T Genome-wide analysis shows unexpected CNV in monozygotic twins - its potential clinical implications. J. T. den Dunnen, A. C. J. Gijsbers, Y. Ariyurek, H. H. Thygesen, C. A. L. Ruivenkamp, D. I. Boomsma, E. P. Slagboom, M. H. Breuning, G. J. B. van Ommen.

528/T A chromosome 19p deletion in a patient with SHFM, tetralogy of Fallot and a clinical phenotype of Angelman syndrome. E. Aten, N. S. den Hollander, C. A. L. Ruivenkamp, J. Knijnenburg, H. van Bokhoven, J. T. den Dunnen, M. H. Breuning.

529/T Pure Trisomy 3q29 Presenting as VATER Association. M. W. Lee, A. R. Brothman, O. A. Abdul-Rahman.

530/T FGFR2 Mutations in Turkish patients with craniosynostosis syndrome. O. Alper, E. Mihci, H. Kayserili, M. O. Caliskan, S. Tacoy, L. J. Wong, G. Luleci.

531/T Screening for 15q duplications/triplications using real-time PCR. S. Bleoo, S. Chan, D. Hildebrand, N. J. Leonard, J. S. Bamforth, L. Vicen, M. J. Somerville.

532/T An interstitial duplication of Xp22.31 defines a new candidate region for lissencephaly loci. J. A. Martinez-Agosto.

533/T A novel deletion in ROR2 causes combined brachydactyly type B and syndactyly type I in a Chinese family. X. Zhang, D. Lv, Y. Luo.

534/T Screening of Interferon Regulatory Factor 6 (IRF6) in European Patients with Van der Woude/Popliteal Pterygium Syndrome or Non Syndromic Cleft Lip and Palate. L. Desmyter, M. Ghassibe, N. Revencu, B. Bayet, C. Verellen, O. Boute, M. Lees, K. Devriendt, K. Claes, G. Mortier, M. C. Addor, M. Bouma, D. Genevieve, A. Goldenberg, A. Gözü, M. McEntagart, A. Sanchez, C. Vilain, L. Van Malderghem, M. Vikkula.

535/T Various Activating TIE2 Tyrosine Kinase Domain Mutations, Including the Recurrent R849W Substitution, Cause Cutaneomucosal Venous Malformation (VMCM) in a Paradominant Fashion. N. Limaye, V. Wouters, M. Uebelhoer, A. Irrthum, L. M. Boon, J. B. Mulliken, J. Murphy, P. Rieu, L. Kangesu, A. Pennington, Y. Lacassie, J. Berg, S. A. Ivarsson, O. Enjolras, A. Dompmartin, E. Baselga, M. Vikkula.

536/T Origin and Mechanisms of Formation of Fetus-in-fetu: two Cases with Genotype and Methylation Analyses. S. Miura, K. Miura, K. Yoshiura, F. Hirahara, M. Yamanaka, N. Niikawa, H. Masuzaki.

537/T Williams-Beuren syndrome with cardiomyopathy and cerebellar hypoplasia: proposing a severe infantile form. N. Okamoto, T. Yamagata, S. Nakamura, K. Ichihashi, Y. Yada, N. Takahashi, H. Shiraishi, M. Y. Momoi, N. Matsumoto, T. Mizuguchi.

538/T Molecular characterization of tuberous sclerosis patients in Taiwan. D. Chu, M. Huang, J. Lin, C. Wang, C. Hou.

539/T Case Report: a Novel Mutation in VDR Gene in an Iranian family with two affected children with Vitamin D Resistant Rickets and Alopecia totalisA. N. Momenin, Y. Shafeghati, S. T. Esfahani, W. Wuyts.

540/T Deficiency of a member of the immunoglobulin superfamily causes a form of C (Opitz trigonocephaly) syndrome. T. Kaname, K. Yanagi, Y. Chinen, Y. Makita, N. Okamoto, H. Maehara, I. Owan, F. Kanaya, Y. Oike, T. Yamamoto, K. Kurosawa, Y. Fukushima, J. M. Opitz, K. Yoshiura, N. Niikawa, K. Naritomi.

541/T An illustrative case of a mosaic deletion of FMR1 in a mildly affected male. M. Ikeda, B. Coffee, D. Budimirovic, L. Hjelm, W. Kaufmann, S. T. Warren.

542/T Mutation spectrum of the Iduronate-2-Sulfatase gene and its implications for the molecular diagnosis of Mucopolysaccharidosis Type II in Korean patients. Y. E. Kim, C. S. Ki, E. K. Kwon, M. J. Kwak, S. J. Kim, K. H. Paik, K. M. Pyun, M. J. Lee, S. H. Chu, A. H. Kim, D. K. Jin.

543/F Vitiligo and hearing loss: report of a new case. L. H. Gomez, G. Juarez Garcia, D. Gomez Torres, M. Izqdo Ortiz, E. H. Gomez.

544/F Facioauriculovertebral spectrum. Mexican family with probable Autosomal recessive inheritance. C. F. Martinez-Cruz, G. Garcia-Sanchez, M. Diaz-Garcia, S. G. Juarez-Garcia.

545/F Otosclerosis: family History and Audiological Findings in 103 Mexican Patients. D. M. Mendoza-Ugalde, G. Garcia-Sanchez, C. F. Martínez-Cruz, R. Baez-Reyes.

546/F Increased Elastolysis Contributes to the Phenotype of Cutis Marmorata Telangiectasia Congenita. S. Jain, A. Hinek, M. Baghetti, H. Tresurer, G. Taylor, M. Silver, D. Nykanen, D. Chitayat.

547/F Spine abnormalities is correlated with back pain in young persons with Ehlers-Danlos Syndromes. S. Bangura, B. F. Griswold, L. Sloper, R. Raza, C. A. Francomano, N. B. McDonnell.

548/F Low Serum Testosterone in Men with Marfan Syndrome. M. Burchett, B. F. Griswold, L. Sloper, C. A. Francomano, S. Basaria, N. B. McDonnell.

549/F Bronchiectasis and Mycobacterium Avium Complex (MAC) infection is associated with Hereditary Disorders of Connective Tissue. B. Griswold, L. Sloper, C. A. Francomano, N. B. McDonnell.

550/F Familial Hypochondroplasia and Epilepsy due to a FGFR3 mutation (C1620A) in a father and two children. P. A. Levy, K. Cherian, Q. Pan.

551/F Abnormalities of the Spine and Reduced Bone Density in Vascular Ehlers-Danlos Syndrome. N. Obeng-Adjei, B. F. Griswold, L. Sloper, R. Raza, C. A. Francomano, W. Chen, J. Yang, N. B. McDonnell.

552/F Spondyloepiphyseal dysplasia, Omani type: a second family and expansion of the phenotype. S. Robertson, M. van Roij.

553/F Spondylocostal dysostosis with preaxial polydactyly: a new entity? M. J. Rodovalho-Doriqui, L. R. Giuliani, C. M. Lourenço, C. D. Martinhago, J. M. de Pina-Neto.

554/F Heterozygous LRP5 mutations in children with fractures. A. Saarinen, M. Mäyränpää, A.-E. Lehesjoki, O. Mäkitie.

555/F Heterotopic ossification as a clue to the underlying pathogenesis of osteogenesis imperfecta type V. L. H. Seaver, J. Brumblay, D. K. Kwock, K. N. Kon, R. M. DiMauro.

556/F Bifurcated femur with absent tibia: case report and expansion of the phenotype of Wolfgang-Gollop syndrome. W. V. Wurm, C. A. Friedrich.

557/F Handedness and APOE Genotype in School-Aged Children. C. S. Bloss, D. C. Delis, M. W. Bondi, D. P. Salmon.

558/F Neuroimaging findings in macrocephaly-cutis marmorata telangiectatica congenita. R. L. Conway, B. D. Pressman, W. B. Dobyns, M. G. Butler, E. Zackai, S. C. Saitta, L. Campbell, C. L. Clericuzio, J. M. Milunsky, H. E. Hoyme, J. Shieh, J. B. Moeschler, B. Crandall, J. L. Lauzon, D. Viskochil, B. Harding, J. M. Graham.

559/F 22q13 deletion syndrome with severe language delay without social communication disturbance in an 8-year-old girl with moderate mental retardation. K. Dahan, X. Pepermans, X. Schlogel, N. Lannoy, C. Sibille.

560/F Molecular analysis of spinal muscular atrophy by gene dosage analysis of survival motor neuron genes in Korean population. J. H. Kim, J. H. Lee, M. H. Lee, B. J. Kim, J. W. Kim, C. S. Ki.

561/F Clinical characterization of three patients with NF1 and suspected glomus tumors. J. L. Sloan, C. Park, A. Moshyedi, L. Yao, C. R. Lee, D. R. Stewart.

562/F A case of spinocerebellar ataxia type 17 (SCA17) associated with homozygous 46/47 repeats of the TBP gene. P. Tarantino, E. V. De Marco, F. Annesi, D. Civitelli, S. Carrideo, M. Caracciolo, E. Pisano, G. Annesi.

563/F The relationship between congenital malformations and pediatric malignancies. M. Akgul, O. Cogulu, S. Aksoylar, A. Alpman, B. Durmaz, C. Gunduz, G. Koturoglu, N. Cetingul, F. Ozkinay.

564/F Neonatal hepatoblastoma in Beckwith-Wiedemann syndrome: which role for imprinting alteration of the 11p15.5 region? L. de Sanctis, M. C. Russo, C. Marinaccio, A. Testa, D. Farinasso, L. Costa, F. Cresi, M. Silengo, L. Silvestro, R. Miniero.

565/F Rhabdomyosarcoma in Costello syndrome: clinical review and molecular studies. K. W. Gripp, L. Nicholson, D. L. Stabley, K. Sol-Church.

566/F Hereditary cancer syndrome found by aCGH in a patient being evaluated for a Prader-Willi-like syndrome. B. Heald, R. Moran, M. Milas, C. Garner, C. Burke, B. Torchia, J. Coppinger, C. Eng.

567/F Role of WD repeat proteins DMXL1 and DMXL2 in health and disease. M. R. Hegde, L. H. Chin.

568/F A new candidate region for Coffin-Siris syndrome? R. S. Simão, C. M. Lourenço, L. C. Veiga Castelli, L. A. F. Laureano, L. Martelli.

569/F Genetic links between maternal diabetes/obesity and neural tube defects. H. Zhu, W. Lu, L. Suarez, M. Canfield, G. M. Shaw, R. H. Finnell.

570/F Arterial Tortuosity Syndrome: clinical and molecular findings in 12 newly identified families. B. Callewaert, A. Willaert, J. De Backer, B. Loeys, P. J. Coucke, A. De Paepe.

571/F The phenotypic variability of laminopathies: a trap for the clinicians. V. Drouin-Garraud, L. Guyant-Maréchal, A. Bedat-Millet, F. Anselme, G. Savoure, A. Laquerrière, P. Richard, T. Frebourg.

572/F Influence of gender on phenotypic manifestations and their age of onset in 1013 probands with Marfan syndrome or related phenotypes with FBN1 mutations: an international study. L. Faivre, G. Collod-Beroud, B. Loeys, A. Child, C. Binquet, E. Gautier, B. Callewaert, E. Arbustini, K. Mayer, M. Arslan-Kirchner, C. Beroud, C. Bonithon-Kopp, M. Claustres, L. Ades, J. De Backer, P. Coucke, U. Francke, A. De Paepe, C. Boileau, G. Jondeau.

573/F Elastin Gene Mutations: genotype-Phenotype Correlations in Supravalvular Aortic Stenosis. V. Hucthagowder, L. Jonggadipo, P. Kaplan, B. A. Kozel, D. K. Grange, M. C. Johnson, Z. Urban.

574/F Aortic Root Disease and Myotonic Dystrophy in Two Siblings: a Unique Family with Maternal Connective Tissue Disease and Paternal CTG Expansion in DMPK. J. Platt, T. Mozaffar, M. V. Zaragoza.

575/F Lethal Cardiomyopathy in Child with Partial Trisomy 22q11.23 and Homozygous MYBPC3 mutation. N. Powell, L. Gole, U. Surti, S. Madan-Khetarpal.

576/F Familial small bowel perforation in siblings with thin, hyperextensible skin, tissue fragility, minor joint dislocations, occasional hypermobility and co-occurrence of intestinal disease. C. A. Bay, R. Kelleher, S. Morrill-Cornelius, R. G. Cadle, B. D. Hall.

577/F Phenotipic Variability of Diphalia. Three cases report from the Hospital para el Niño Poblano. México. L. Cuellar, J. Aparicio, P. M. Barrientos, H. M. L. Hurtado, G. R. Vargas.

578/F Update on the NIH Study on ARPKD/CHF and other Ciliopathies. M. Gunay-Aygun, E. Font-Montgomery, M. Parisi, D. Adams, H. Edwards, L. Lukose, P. Choyke, R. Fischer, I. Bernardini, J. Bryant, B. Gochuico, L. Guay-Woodford, H. Heller, P. Mohan, K. Daryanani, W. A. Gahl.

579/F Third patient with paternal isodisomy for chromosome 7 and cystic fibrosis. C. Le Caignec, B. Isidor, U. de Pontbriand, V. David, M. P. Audrezet, C. Férec, A. David.

580/F Intrafamilial Variability in Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis (ARPKD/CHF). L. Lukose, E. Font-Montgomery, D. Adams, H. Edwards, A. Garcia, J. Bryant, P. Choyke, T. Heller, P. Mohan, K. Daryanani, L. Guay-Woodford, W. A. Gahl, M. Gunay-Aygun.

581/F Inheritance patterns of pectus excavatum based upon pedigree analysis. V. Proud, L. Horth, K. Segna, E. Maple, R. Kelly, D. Nuss, M. Stacey.

582/F A common pathogenetic role for vitamin K-dependent inhibitors of calcification in PXE and the PXE-like syndrome: novel insights in ectopic mineralization. O. M. Vanakker, L. Martin, D. Gheduzzi, B. P. Leroy, B. Loeys, P. J. Coucke, L. Schurgers, C. Vermeer, I. Pasquali-Ronchetti, A. De Paepe.

583/F Clinical features in children with microdeletions of the NF-1 gene detected by array CGH. J. F. Atkin, R. Moran, E. Edelman, C. Rigelsky, B. Burton, J. Coppinger, L. G. Shaffer.

584/F Implications of a Novel SOX9 Mutation on the Sexual Phenotype of a Fœtus with True Hermaphroditism and Acampomelic Campomelic Dysplasia. M. Beaulieu Bergeron, G. Scherer, J.-C. Fournet, E. Lemyre, N. Lemieux.

585/F Gastrointestinal Disorders in Patients with Hypermobile or Classical Ehlers-Danlos Syndromes. A. Gustafson, B. F. Griswold, L. Sloper, M. Lavallee, C. A. Francomano, N. B. McDonnell.

586/F Alert to asymptomatic arterial hypertension in Williams-Beuren syndrome in childhood. R. Honjo, E. A. Furusawa, D. R. Bertola, L. M. J. Albano, L. Suzuki, V. H. K. Koch, C. A. Kim.

587/F Atypical Presentations of Noonan Syndrome with Hematologic Disease. R. Jethva, J. Ganesh, I. Krantz, S. Saitta, L. Campbell, P. Kaplan.

588/F Skull defects, alopecia, and distinctive facies: a new syndrome? A. Kariminejad, B. Bozorgmehr, M. R. Ashrafi, M. H. Karimi-Nejad.

589/F Clinical delineation of sleep disturbance in Cornelia de Lange syndrome (CdLS). A. D. Kline, G. Saba, R. Morse, W. C. Duncan, A. C. M. Smith.

590/F Cerebral infarction in a 3-year-old patient with progeria. R. Kosaki, M. Uno, K. Mizuguchi, Y. Abe, T. Nagasawa, O. Migita, T. Tanaka, T. Okuyama, K. Kosaki, A. Oka.

591/F Persistent müllerian duct and jejunal atresia: evidence for a new syndrome. G. Morin, C. Jeanpetit, C. Belville, J. Ricard, H. Bony-Trifunovic, B. Boudailliez, J. P. Canarelli, J. Y. Picard, M. Mathieu.

592/F Mental Retardation, Ataxia with Vermis Hypoplasia and Distinctive Facial Appearance, Report of Two Cases. J. Prieto, G. Contreras, P. M. Hurtado.

593/F Nevo-like phenotype, not associated to lysyl hydroxylase deficiency: a new form of overgrowth syndrome? G. Scarselli, M. Ottaviani, N. Dayan, A. Zeffiri, E. Lapi, S. Guarducci, M. Giovannucci Uzielli.

594/F Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either Beckwith-Wiedemann or Russell-Silver syndrome. S. T. South, H. Whitby, T. Maxwell, E. Aston, A. R. Brothman, J. C. Carey.

595/F Independent NF1 and PTPN11 mutations in a family with Neurofibromatosis-Noonan syndrome. C. T. Thiel, M. Wilken, M. Zenker, R. Fahsold, A. Rauch.

596/F