Works matching IS 03406717 AND DT 2010 AND VI 127 AND IP 1

Results: 12

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.

Published in:

Human Genetics, 2010, v. 127, n. 1, p. 33, doi. 10.1007/s00439-009-0729-3

By:

Dimasi, David P.;
Chen, Jern Y.;
Hewitt, Alex W.;
Klebe, Sonja;
Davey, Richard;
Stirling, John;
Thompson, Elizabeth;
Forbes, Robin;
Tan, Tiong Y.;
Savarirayan, Ravi;
Mackey, David A.;
Healey, Paul R.;
Mitchell, Paul;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35).

Published in:

Human Genetics, 2010, v. 127, n. 1, p. 19, doi. 10.1007/s00439-009-0736-4

By:

Brown, Kerry K.;
Reiss, Jacob A.;
Crow, Kate;
Ferguson, Heather L.;
Kelly, Chantal;
Fritzsch, Bernd;
Morton, Cynthia C.

Publication type:

Article

An intronic polymorphism in the corticotropin-releasing hormone receptor 2 gene increases susceptibility to HBV-related hepatocellular carcinoma in Chinese population.

Published in:

Human Genetics, 2010, v. 127, n. 1, p. 75, doi. 10.1007/s00439-009-0750-6

By:

Xing Gu;
Peng Qi;
Feiguo Zhou;
Qiang Ji;
Hao Wang;
Tonghai Dou;
Yunpeng Zhao;
Chunfang Gao

Publication type:

Article

A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.

Published in:

Human Genetics, 2010, v. 127, n. 1, p. 83, doi. 10.1007/s00439-009-0749-z

By:

Huertas-Vazquez, Adriana;
Plaisier, Christopher L.;
Ruishuang Geng;
Haas, Blake E.;
Lee, Jenny;
Greevenbroek, Marleen M.;
van der Kallen, Carla;
de Bruin, Tjerk W. A.;
Taskinen, Marja-Riitta;
Alagramam, Kumar N.;
Pajukanta, Päivi

Publication type:

Article

A comprehensive resequence analysis of the KLK15–KLK3–KLK2 locus on chromosome 19q13.33.

Published in:

Human Genetics, 2010, v. 127, n. 1, p. 91, doi. 10.1007/s00439-009-0751-5

By:

Parikh, Hemang;
Zuoming Deng;
Yeager, Meredith;
Boland, Joseph;
Matthews, Casey;
Jinping Jia;
Collins, Irene;
White, Ariel;
Burdett, Laura;
Hutchinson, Amy;
Liqun Qi;
Bacior, Jennifer A.;
Lonsberry, Victor;
Rodesch, Matthew J.;
Jeddeloh, Jeffrey A.;
Albert, Thomas J.;
Halvensleben, Heather A.;
Harkins, Timothy T.;
Jiyoung Ahn;
Berndt, Sonja I.

Publication type:

Article

Molecular genetics and epigenetics of the cytochrome P450 gene family and its relevance for cancer risk and treatment.

Published in:

Human Genetics, 2010, v. 127, n. 1, p. 1, doi. 10.1007/s00439-009-0748-0

By:

Rodriguez-Antona, Cristina;
Gomez, Alvin;
Karlgren, Maria;
Sim, Sarah C.;
Ingelman-Sundberg, Magnus

Publication type:

Article

H Kehrer-sawatzki and DN Cooper (eds): Copy number variation and disease.

Published in:

2010

By:

Raymond, F. Lucy

Publication type:

Book Review

The transcription factor GATA-2 does not associate with angiographic coronary artery disease in the Ottawa Heart Genomics and Cleveland Clinic GeneBank Studies.

Published in:

Human Genetics, 2010, v. 127, n. 1, p. 101, doi. 10.1007/s00439-009-0761-3

By:

Dandona, Sonny;
Li Chen;
Meng Fan;
Alam, Md Afaque;
Assogba, Olivia;
Belanger, Melanie;
Williams, Kathryn;
Wells, George A.;
Tang, W. H. Wilson;
Ellis, Stephen G.;
Hazen, Stanley L.;
McPherson, Ruth;
Roberts, Robert;
Stewart, Alexandre F. R.

Publication type:

Article

Novel human pathological mutations.

Published in:: Human Genetics, 2010, v. 127, n. 1, p. 109, doi. 10.1007/s00439-009-0757-z
Publication type:: Article

Mutations in the VNTR of the carboxyl-ester lipase gene ( CEL) are a rare cause of monogenic diabetes.

Published in:

Human Genetics, 2010, v. 127, n. 1, p. 55, doi. 10.1007/s00439-009-0740-8

By:

Torsvik, Janniche;
Johansson, Stefan;
Johansen, Anders;
Ek, Jakob;
Minton, Jayne;
Ræder, Helge;
Ellard, Sian;
Hattersley, Andrew;
Pedersen, Oluf;
Hansen, Torben;
Molven, Anders;
Njølstad, Pål

Publication type:

Article

Variants in toll-like receptors 2 and 9 influence susceptibility to pulmonary tuberculosis in Caucasians, African-Americans, and West Africans.

Published in:

Human Genetics, 2010, v. 127, n. 1, p. 65, doi. 10.1007/s00439-009-0741-7

By:

Velez, Digna Rosa;
Wejse, Christian;
Stryjewski, Martin E.;
Abbate, Eduardo;
Hulme, William F.;
Myers, Jamie L.;
Estevan, Rosa;
Patillo, Sara G.;
Olesen, Rikke;
Tacconelli, Alessandra;
Sirugo, Giorgio;
Gilbert, John R.;
Hamilton, Carol D.;
Scott, William K.

Publication type:

Article

Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency.

Published in:

Human Genetics, 2010, v. 127, n. 1, p. 45, doi. 10.1007/s00439-009-0742-6

By:

Picard, Véronique;
Jian-Min Chen;
Tardy, Brigitte;
Aillaud, Marie-Françoise;
Boiteux-Vergnes, Christine;
Dreyfus, Marie;
Emmerich, Joseph;
Lavenu-Bombled, Cécile;
Nowak-Göttl, Ulrike;
Trillot, Nathalie;
Aiach, Martine;
Alhenc-Gelas, Martine

Publication type:

Article