Works matching IS 03406717 AND DT 2011 AND VI 130 AND IP 6

Results: 13

A mutation screen in patients with Kabuki syndrome.

Published in:

Human Genetics, 2011, v. 130, n. 6, p. 715, doi. 10.1007/s00439-011-1004-y

By:

Li, Yun;
Bögershausen, Nina;
Alanay, Yasemin;
Simsek Kiper, Pelin;
Plume, Nadine;
Keupp, Katharina;
Pohl, Esther;
Pawlik, Barbara;
Rachwalski, Martin;
Milz, Esther;
Thoenes, Michaela;
Albrecht, Beate;
Prott, Eva-Christina;
Lehmkühler, Margret;
Demuth, Stephanie;
Utine, Gülen;
Boduroglu, Koray;
Frankenbusch, Katja;
Borck, Guntram;
Gillessen-Kaesbach, Gabriele

Publication type:

Article

Two-marker association tests yield new disease associations for coronary artery disease and hypertension.

Published in:

Human Genetics, 2011, v. 130, n. 6, p. 725, doi. 10.1007/s00439-011-1009-6

By:

Slavin, Thomas;
Feng, Tao;
Schnell, Audrey;
Zhu, Xiaofeng;
Elston, Robert

Publication type:

Article

Alterations of ATM and CADM1 in chromosomal 11q22.3-23.2 region are associated with the development of invasive cervical carcinoma.

Published in:

Human Genetics, 2011, v. 130, n. 6, p. 735, doi. 10.1007/s00439-011-1015-8

By:

Mazumder Indra, Dipanjana;
Mitra, Sraboni;
Roy, Anup;
Mondal, Ranajit;
Basu, Partha;
Roychoudhury, Susanta;
Chakravarty, Runu;
Panda, Chinmay

Publication type:

Article

A miRNA-492 binding-site polymorphism in BSG ( basigin) confers risk to psoriasis in Central South Chinese population.

Published in:

Human Genetics, 2011, v. 130, n. 6, p. 749, doi. 10.1007/s00439-011-1026-5

By:

Wu, Li-Sha;
Li, Fang-Fang;
Sun, Liang-Dan;
Li, Dai;
Su, Juan;
Kuang, Ye-Hong;
Chen, Gang;
Chen, Xiao-Ping;
Chen, Xiang

Publication type:

Article

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.

Published in:

Human Genetics, 2011, v. 130, n. 6, p. 759, doi. 10.1007/s00439-011-1018-5

By:

Rehman, Atteeq;
Gul, Khitab;
Morell, Robert;
Lee, Kwanghyuk;
Ahmed, Zubair;
Riazuddin, Saima;
Ali, Rana;
Shahzad, Mohsin;
Jaleel, Ateeq-ul;
Andrade, Paula;
Khan, Shaheen;
Khan, Saadullah;
Brewer, Carmen;
Ahmad, Wasim;
Leal, Suzanne;
Riazuddin, Sheikh;
Friedman, Thomas

Publication type:

Article

A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk.

Published in:

Human Genetics, 2011, v. 130, n. 6, p. 767, doi. 10.1007/s00439-011-1025-6

By:

Sun, Chang;
Huo, Dezheng;
Southard, Catherine;
Nemesure, Barbara;
Hennis, Anselm;
Cristina Leske, M.;
Wu, Suh-Yuh;
Witonsky, David;
Olopade, Olufunmilayo;
Rienzo, Anna

Publication type:

Article

Anticipation in hereditary disease: the history of a biomedical concept.

Published in:

Human Genetics, 2011, v. 130, n. 6, p. 705, doi. 10.1007/s00439-011-1022-9

By:

Friedman, Judith

Publication type:

Article

The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.

Published in:

Human Genetics, 2011, v. 130, n. 6, p. 777, doi. 10.1007/s00439-011-1020-y

By:

Hasi, Minire;
Soileau, Bridgette;
Sebold, Courtney;
Hill, Annice;
Hale, Daniel;
O'Donnell, Louise;
Cody, Jannine

Publication type:

Article

Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers.

Published in:

Human Genetics, 2011, v. 130, n. 6, p. 789, doi. 10.1007/s00439-011-1039-0

By:

Fang, Shenying;
Krahe, Ralf;
Bachinski, Linda;
Zhang, Baili;
Amos, Christopher;
Strong, Louise

Publication type:

Article

Genomewide linkage analysis in Costa Rican families implicates chromosome 15q14 as a candidate region for OCD.

Published in:

Human Genetics, 2011, v. 130, n. 6, p. 795, doi. 10.1007/s00439-011-1033-6

By:

Ross, Jessica;
Badner, Judith;
Garrido, Helena;
Sheppard, Brooke;
Chavira, Denise;
Grados, Marco;
Woo, Jonathan;
Doo, Pamela;
Umaña, Paula;
Fournier, Eduardo;
Murray, Sarah;
Mathews, Carol

Publication type:

Article

MHC region and risk of systemic lupus erythematosus in African American women.

Published in:

Human Genetics, 2011, v. 130, n. 6, p. 807, doi. 10.1007/s00439-011-1045-2

By:

Ruiz-Narvaez, Edward;
Fraser, Patricia;
Palmer, Julie;
Cupples, L.;
Reich, David;
Wang, Ying;
Rioux, John;
Rosenberg, Lynn

Publication type:

Article

Novel variant Pro143Ala in HTRA2 contributes to Parkinson's disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria.

Published in:

Human Genetics, 2011, v. 130, n. 6, p. 817, doi. 10.1007/s00439-011-1041-6

By:

Lin, Chin-Hsien;
Chen, Meng-Ling;
Chen, Grace;
Tai, Chun-Hwei;
Wu, Ruey-Meei

Publication type:

Article

John C. Avise: Inside the human genome: a case for non-intelligent design.

Published in:

2011

By:

Harper, Peter

Publication type:

Book Review