Works matching IS 03406717 AND DT 2014 AND VI 133 AND IP 10

Results: 9

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

Published in:

Human Genetics, 2014, v. 133, n. 10, p. 1255, doi. 10.1007/s00439-014-1460-2

By:

Xu, Yan;
Shen, Tao;
Xiao, Xueshan;
Li, Shiqiang;
Jia, Xiaoyun;
Guo, Xiangming;
Zhang, Qingjiong;
Guan, Liping;
Zhang, Jianguo;
Jiang, Hui;
Yang, Jianhua;
Yin, Ye;
Wang, Jun

Publication type:

Article

Next generation modeling in GWAS: comparing different genetic architectures.

Published in:

Human Genetics, 2014, v. 133, n. 10, p. 1235, doi. 10.1007/s00439-014-1461-1

By:

González-Recio, Óscar;
Mehrban, Hossein;
Goddard, Michael;
López de Maturana, Evangelina;
Marenne, Gaëlle;
Malats, Núria;
Ibáñez-Escriche, Noelia;
Chanock, Stephen

Publication type:

Article

Population and genomic lessons from genetic analysis of two Indian populations.

Published in:

Human Genetics, 2014, v. 133, n. 10, p. 1273, doi. 10.1007/s00439-014-1462-0

By:

Laayouni, Hafid;
Casals, Ferran;
Juyal, Garima;
Thelma, B.;
Mondal, Mayukh;
Luisi, Pierre;
Bertranpetit, Jaume;
Sood, Ajit;
Midha, Vandana;
Heutink, Peter

Publication type:

Article

Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma.

Published in:

Human Genetics, 2014, v. 133, n. 10, p. 1289, doi. 10.1007/s00439-014-1463-z

By:

Kelley, Michael;
Mitchell, Jason;
Bass, Sara;
Roberson, David;
Boland, Joseph;
Cullen, Michael;
He, Ji;
Burdette, Laurie;
Yeager, Meredith;
Shi, Jianxin;
Ballew, Bari;
Hyland, Paula;
Li, Wen-Qing;
Rotunno, Melissa;
Chanock, Stephen;
Parry, Dilys;
Goldstein, Alisa;
Yang, Xiaohong;
Alcorta, David;
Liebsch, Norbert

Publication type:

Article

Polymorphism of DEFA in Chinese Han population with IgA nephropathy.

Published in:

Human Genetics, 2014, v. 133, n. 10, p. 1299, doi. 10.1007/s00439-014-1464-y

By:

Xu, Ricong;
Feng, Shaozhen;
Li, Zhijian;
Yin, Peiran;
Ai, Zhen;
Liu, Wenting;
Yu, Xueqing;
Li, Ming;
Fu, Yonggui

Publication type:

Article

Modifiers of (CAG) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.

Published in:

Human Genetics, 2014, v. 133, n. 10, p. 1311, doi. 10.1007/s00439-014-1467-8

By:

Martins, Sandra;
Pearson, Christopher;
Amorim, António;
Dubé, Marie-Pierre;
Sequeiros, Jorge;
Coutinho, Paula;
Provost, Sylvie;
Rouleau, Guy

Publication type:

Article

Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma.

Published in:

Human Genetics, 2014, v. 133, n. 10, p. 1319, doi. 10.1007/s00439-014-1468-7

By:

Bailey, Jessica;
Yaspan, Brian;
Pasquale, Louis;
Hauser, Michael;
Loomis, Stephanie;
Fingert, John;
Liu, Yutao;
Haines, Jonathan;
Kang, Jae;
McCarty, Catherine;
Realini, Tony;
Schuman, Joel;
Wollstein, Gadi;
Scott, William;
Pericak-Vance, Margaret;
Singh, Kuldev;
Sit, Arthur;
Vollrath, Douglas;
Zack, Donald;
Zhang, Kang

Publication type:

Article

Missing heritability of common diseases and treatments outside the protein-coding exome.

Published in:

Human Genetics, 2014, v. 133, n. 10, p. 1199, doi. 10.1007/s00439-014-1476-7

By:

Sadee, Wolfgang;
Seweryn, Michał;
Pietrzak, Maciej;
Rempala, Grzegorz;
Hartmann, Katherine;
Handelman, Samuel

Publication type:

Article

Human gene copy number variation and infectious disease.

Published in:

Human Genetics, 2014, v. 133, n. 10, p. 1217, doi. 10.1007/s00439-014-1457-x

By:

Hollox, Edward;
Hoh, Boon-Peng

Publication type:

Article