Works matching IS 03406717 AND DT 2012 AND VI 131 AND IP 1

Results: 14

Attitudes on DNA ancestry tests.

Published in:

Human Genetics, 2012, v. 131, n. 1, p. 41, doi. 10.1007/s00439-011-1034-5

By:

Wagner, Jennifer;
Weiss, Kenneth

Publication type:

Article

A polymorphism of the interferon-gamma-inducible protein 30 gene is associated with hyperglycemia in severely obese individuals.

Published in:

Human Genetics, 2012, v. 131, n. 1, p. 57, doi. 10.1007/s00439-011-1043-4

By:

Turcot, V.;
Bouchard, L.;
Faucher, G.;
Tchernof, A.;
Deshaies, Y.;
Pérusse, L.;
Marceau, P.;
Hould, F.;
Lebel, S.;
Vohl, Marie-Claude

Publication type:

Article

Mutations in the NRG1 gene are associated with Hirschsprung disease.

Published in:

Human Genetics, 2012, v. 131, n. 1, p. 67, doi. 10.1007/s00439-011-1035-4

By:

Tang, Clara;
Ngan, Elly;
Tang, Wai-Kiu;
So, Man-Ting;
Cheng, Guo;
Miao, Xiao-Ping;
Leon, Thomas;
Leung, Brian;
Hui, Kenneth-Jeremy;
Lui, Vincent;
Chen, Yan;
Chan, Ivy;
Chung, Patrick;
Liu, Xue-Lai;
Wong, Kenneth;
Sham, Pak-Chung;
Cherny, Stacey;
Tam, Paul;
Garcia-Barcelo, Maria-Mercè

Publication type:

Article

A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q.

Published in:

Human Genetics, 2012, v. 131, n. 1, p. 77, doi. 10.1007/s00439-011-1048-z

By:

Teerlink, Craig;
Farnham, James;
Allen-Brady, Kristina;
Camp, Nicola;
Thomas, Alun;
Leachman, Sancy;
Cannon-Albright, Lisa

Publication type:

Article

Molecular genetic studies of gene identification for sarcopenia.

Published in:

Human Genetics, 2012, v. 131, n. 1, p. 1, doi. 10.1007/s00439-011-1040-7

By:

Tan, Li-Jun;
Liu, Shan-Lin;
Lei, Shu-Feng;
Papasian, Christopher;
Deng, Hong-Wen

Publication type:

Article

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Published in:

Human Genetics, 2012, v. 131, n. 1, p. 99, doi. 10.1007/s00439-011-1047-0

By:

Hayashi, Shin;
Okamoto, Nobuhiko;
Chinen, Yasutsugu;
Takanashi, Jun-ichi;
Makita, Yoshio;
Hata, Akira;
Imoto, Issei;
Inazawa, Johji

Publication type:

Article

Artifact due to differential error when cases and controls are imputed from different platforms.

Published in:

Human Genetics, 2012, v. 131, n. 1, p. 111, doi. 10.1007/s00439-011-1054-1

By:

Sinnott, Jennifer;
Kraft, Peter

Publication type:

Article

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis.

Published in:

Human Genetics, 2012, v. 131, n. 1, p. 87, doi. 10.1007/s00439-011-1053-2

By:

Cagliani, Rachele;
Fumagalli, Matteo;
Guerini, Franca;
Riva, Stefania;
Galimberti, Daniela;
Comi, Giacomo;
Agliardi, Cristina;
Scarpini, Elio;
Pozzoli, Uberto;
Forni, Diego;
Caputo, Domenico;
Asselta, Rosanna;
Biasin, Mara;
Paraboschi, Elvezia;
Bresolin, Nereo;
Clerici, Mario;
Sironi, Manuela

Publication type:

Article

Common variants for atrial fibrillation: results from genome-wide association studies.

Published in:

Human Genetics, 2012, v. 131, n. 1, p. 33, doi. 10.1007/s00439-011-1052-3

By:

Liu, Xinyuan;
Wang, Fei;
Knight, Ashley;
Zhao, Jiangmin;
Xiao, Junjie

Publication type:

Article

Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.

Published in:

Human Genetics, 2012, v. 131, n. 1, p. 121, doi. 10.1007/s00439-011-1051-4

By:

Sakazume, Satoru;
Ohashi, Hirofumi;
Sasaki, Yuki;
Harada, Naoki;
Nakanishi, Katsumi;
Sato, Hidenori;
Emi, Mitsuru;
Endoh, Kazushi;
Sohma, Ryoichi;
Kido, Yasuhiro;
Nagai, Toshiro;
Kubota, Takeo

Publication type:

Article

Spectrum of large copy number variations in 26 diverse Indian populations: potential involvement in phenotypic diversity.

Published in:

Human Genetics, 2012, v. 131, n. 1, p. 131, doi. 10.1007/s00439-011-1050-5

By:

Gautam, Pramod;
Jha, Pankaj;
Kumar, Dhirendra;
Tyagi, Shivani;
Varma, Binuja;
Dash, Debasis;
Mukhopadhyay, Arijit;
Mukerji, Mitali

Publication type:

Article

Elof Axel Carlson: Mutation: the history of an idea from Darwin to genomics.

Published in:

2012

By:

Harper, Peter

Publication type:

Book Review

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

Published in:

Human Genetics, 2012, v. 131, n. 1, p. 145, doi. 10.1007/s00439-011-1073-y

By:

Ballif, Blake;
Rosenfeld, Jill;
Traylor, Ryan;
Theisen, Aaron;
Bader, Patricia;
Ladda, Roger;
Sell, Susan;
Steinraths, Michelle;
Surti, Urvashi;
McGuire, Marianne;
Williams, Shelley;
Farrell, Sandra;
Filiano, James;
Schnur, Rhonda;
Coffey, Lauren;
Tervo, Raymond;
Stroud, Tracy;
Marble, Michael;
Netzloff, Michael;
Hanson, Kristen

Publication type:

Article

Alan E. H. Emery, Marcia L. H. Emery: The History of a Genetic Disease. Duchenne Muscular Dystrophy or Meryon's Disease.

Published in:

2012

By:

Rüdel, Reinhardt

Publication type:

Book Review