Works matching IS 03406717 AND DT 2015 AND VI 134 AND IP 10

Results: 9

Mutations in human IFT140 cause non-syndromic retinal degeneration.

Published in:

Human Genetics, 2015, v. 134, n. 10, p. 1069, doi. 10.1007/s00439-015-1586-x

By:

Xu, Mingchu;
Yang, Lizhu;
Wang, Feng;
Li, Huajin;
Wang, Xia;
Wang, Weichen;
Ge, Zhongqi;
Wang, Keqing;
Zhao, Li;
Li, Hui;
Li, Yumei;
Sui, Ruifang;
Chen, Rui

Publication type:

Article

Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.

Published in:

Human Genetics, 2015, v. 134, n. 10, p. 1055, doi. 10.1007/s00439-015-1585-y

By:

Chapman, Nicola;
Nato, Alejandro;
Bernier, Raphael;
Ankenman, Katy;
Sohi, Harkirat;
Munson, Jeff;
Patowary, Ashok;
Archer, Marilyn;
Blue, Elizabeth;
Webb, Sara;
Coon, Hilary;
Raskind, Wendy;
Brkanac, Zoran;
Wijsman, Ellen

Publication type:

Article

Common polygenic variation contributes to risk of migraine in the Norfolk Island population.

Published in:

Human Genetics, 2015, v. 134, n. 10, p. 1079, doi. 10.1007/s00439-015-1587-9

By:

Rodriguez-Acevedo, A.;
Ferreira, M.;
Benton, Miles;
Carless, Melanie;
Goring, Harald;
Curran, Joanne;
Blangero, John;
Lea, R.;
Griffiths, L.

Publication type:

Article

T (brachyury) is linked to a Mendelian form of neural tube defects in humans.

Published in:

2015

By:

Shaheen, Ranad;
Alshail, Essam;
Alaqeel, Ahmed;
Ansari, Shinu;
Hindieh, Farah;
Alkuraya, Fowzan

Publication type:

Letter

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Published in:

Human Genetics, 2015, v. 134, n. 10, p. 1089, doi. 10.1007/s00439-015-1590-1

By:

Bramswig, Nuria;
Ockeloen, C.;
Czeschik, J.;
Essen, A.;
Pfundt, R.;
Smeitink, J.;
Poll-The, B.;
Engels, H.;
Strom, T.;
Wieczorek, D.;
Kleefstra, T.;
Lüdecke, H.-J.

Publication type:

Article

The nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation.

Published in:

Human Genetics, 2015, v. 134, n. 10, p. 1099, doi. 10.1007/s00439-015-1591-0

By:

Carmona-Mora, Paulina;
Widagdo, Jocelyn;
Tomasetig, Florence;
Canales, Cesar;
Cha, Yeojoon;
Lee, Wei;
Alshawaf, Abdullah;
Dottori, Mirella;
Whan, Renee;
Hardeman, Edna;
Palmer, Stephen

Publication type:

Article

Sequencing of candidate genes in Dominican families implicates both rare exonic and common non-exonic variants for carotid intima-media thickness at bifurcation.

Published in:

Human Genetics, 2015, v. 134, n. 10, p. 1127, doi. 10.1007/s00439-015-1592-z

By:

Wang, Liyong;
Beecham, Ashley;
Dueker, Nicole;
Blanton, Susan;
Rundek, Tatjana;
Sacco, Ralph

Publication type:

Article

Allowing for population stratification in case-only studies of gene-environment interaction, using genomic control.

Published in:

Human Genetics, 2015, v. 134, n. 10, p. 1117, doi. 10.1007/s00439-015-1593-y

By:

Yadav, Pankaj;
Freitag-Wolf, Sandra;
Lieb, Wolfgang;
Dempfle, Astrid;
Krawczak, Michael

Publication type:

Article

Investigation of genes important in neurodevelopment disorders in adult human brain.

Published in:

Human Genetics, 2015, v. 134, n. 10, p. 1037, doi. 10.1007/s00439-015-1584-z

By:

Maussion, Gilles;
Diallo, Alpha;
Gigek, Carolina;
Chen, Elizabeth;
Crapper, Liam;
Théroux, Jean-Francois;
Chen, Gary;
Vasuta, Cristina;
Ernst, Carl

Publication type:

Article