Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 1

Results: 10

Preferential use of minor codons in the translation initiation region of human genes.

Published in:

Human Genetics, 2017, v. 136, n. 1, p. 67, doi. 10.1007/s00439-016-1735-x

By:

Park, Jung-Ho;
Kwon, Munjin;
Yamaguchi, Yoshihiro;
Firestein, Bonnie;
Park, Ji-Young;
Yun, Jieun;
Yang, Jeong-Ook;
Inouye, Masayori

Publication type:

Article

Network analysis of mitonuclear GWAS reveals functional networks and tissue expression profiles of disease-associated genes.

Published in:

Human Genetics, 2017, v. 136, n. 1, p. 55, doi. 10.1007/s00439-016-1736-9

By:

Johnson, Simon;
Gonzalez, Brenda;
Zhang, Quanwei;
Milholland, Brandon;
Zhang, Zhengdong;
Suh, Yousin

Publication type:

Article

Genetic factor common to schizophrenia and HIV infection is associated with risky sexual behavior: antagonistic vs. synergistic pleiotropic SNPs enriched for distinctly different biological functions.

Published in:

Human Genetics, 2017, v. 136, n. 1, p. 75, doi. 10.1007/s00439-016-1737-8

By:

Wang, Qian;
Polimanti, Renato;
Kranzler, Henry;
Farrer, Lindsay;
Zhao, Hongyu;
Gelernter, Joel

Publication type:

Article

CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling.

Published in:

Human Genetics, 2017, v. 136, n. 1, p. 1, doi. 10.1007/s00439-016-1739-6

By:

Liu, Jiaqi;
Zhou, Yangzhong;
Qi, Xiaolong;
Chen, Jia;
Chen, Weisheng;
Qiu, Guixing;
Wu, Zhihong;
Wu, Nan

Publication type:

Article

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.

Published in:

Human Genetics, 2017, v. 136, n. 1, p. 99, doi. 10.1007/s00439-016-1741-z

By:

Shamseldin, Hanan;
Khalifa, Ola;
Binamer, Yousef;
Almutawa, Abdulmonem;
Arold, Stefan;
Zaidan, Hamad;
Alkuraya, Fowzan

Publication type:

Article

Complete mitochondrial genomes of Thai and Lao populations indicate an ancient origin of Austroasiatic groups and demic diffusion in the spread of Tai-Kadai languages.

Published in:

Human Genetics, 2017, v. 136, n. 1, p. 85, doi. 10.1007/s00439-016-1742-y

By:

Kutanan, Wibhu;
Kampuansai, Jatupol;
Srikummool, Metawee;
Kangwanpong, Daoroong;
Ghirotto, Silvia;
Brunelli, Andrea;
Stoneking, Mark

Publication type:

Article

Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.

Published in:

Human Genetics, 2017, v. 136, n. 1, p. 119, doi. 10.1007/s00439-016-1745-8

By:

Holt, R.;
Ugur Iseri, S.;
Wyatt, A.;
Bax, D.;
Gold Diaz, D.;
Santos, C.;
Broadgate, S.;
Dunn, R.;
Bruty, J.;
Wallis, Y.;
McMullan, D.;
Ogilvie, C.;
Gerrelli, D.;
Zhang, Y.;
Ragge, Nicola

Publication type:

Article

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.

Published in:

Human Genetics, 2017, v. 136, n. 1, p. 107, doi. 10.1007/s00439-016-1746-7

By:

Pater, Justin;
Benteau, Tammy;
Griffin, Anne;
Penney, Cindy;
Stanton, Susan;
Predham, Sarah;
Kielley, Bernadine;
Squires, Jessica;
Zhou, Jiayi;
Li, Quan;
Abdelfatah, Nelly;
O'Rielly, Darren;
Young, Terry-Lynn

Publication type:

Article

Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach.

Published in:

Human Genetics, 2017, v. 136, n. 1, p. 13, doi. 10.1007/s00439-016-1749-4

By:

La Cognata, Valentina;
Morello, Giovanna;
D'Agata, Velia;
Cavallaro, Sebastiano

Publication type:

Article

Atlas of human diseases influenced by genetic variants with extreme allele frequency differences.

Published in:

Human Genetics, 2017, v. 136, n. 1, p. 39, doi. 10.1007/s00439-016-1734-y

By:

Sulovari, Arvis;
Chen, Yolanda;
Hudziak, James;
Li, Dawei

Publication type:

Article