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