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