Works matching IS 03406717 AND DT 2016 AND VI 135 AND IP 12

Results: 8

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.

Published in:

Human Genetics, 2016, v. 135, n. 12, p. 1343, doi. 10.1007/s00439-016-1721-3

By:

Lucariello, Mario;
Vidal, Enrique;
Vidal, Silvia;
Saez, Mauricio;
Roa, Laura;
Huertas, Dori;
Pineda, Mercè;
Dalfó, Esther;
Dopazo, Joaquin;
Jurado, Paola;
Armstrong, Judith;
Esteller, Manel

Publication type:

Article

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.

Published in:

Human Genetics, 2016, v. 135, n. 12, p. 1355, doi. 10.1007/s00439-016-1727-x

By:

Hagen, Erin;
Sicko, Robert;
Kay, Denise;
Rigler, Shannon;
Dimopoulos, Aggeliki;
Ahmad, Shabbir;
Doleman, Margaret;
Fan, Ruzong;
Romitti, Paul;
Browne, Marilyn;
Caggana, Michele;
Brody, Lawrence;
Shaw, Gary;
Jelliffe-Pawlowski, Laura;
Mills, James

Publication type:

Article

Associations of cytochrome P450 oxidoreductase genetic polymorphisms with smoking cessation in a Chinese population.

Published in:

Human Genetics, 2016, v. 135, n. 12, p. 1389, doi. 10.1007/s00439-016-1728-9

By:

Li, Huijie;
Li, Suyun;
Wang, Qiang;
Jia, Chongqi

Publication type:

Article

The disappearing San of southeastern Africa and their genetic affinities.

Published in:

Human Genetics, 2016, v. 135, n. 12, p. 1365, doi. 10.1007/s00439-016-1729-8

By:

Schlebusch, Carina;
Prins, Frans;
Lombard, Marlize;
Jakobsson, Mattias;
Soodyall, Himla

Publication type:

Article

A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa.

Published in:

Human Genetics, 2016, v. 135, n. 12, p. 1375, doi. 10.1007/s00439-016-1730-2

By:

Zhang, Jinlu;
Wang, Changguan;
Shen, Yan;
Chen, Ningning;
Wang, Likun;
Liang, Ling;
Guo, Tong;
Yin, Xiaobei;
Ma, Zhizhong;
Zhang, Bo;
Yang, Liping

Publication type:

Article

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

Published in:

Human Genetics, 2016, v. 135, n. 12, p. 1399, doi. 10.1007/s00439-016-1731-1

By:

Ma, Lijiang;
Bayram, Yavuz;
McLaughlin, Heather;
Cho, Megan;
Krokosky, Alyson;
Turner, Clesson;
Lindstrom, Kristin;
Bupp, Caleb;
Mayberry, Katey;
Mu, Weiyi;
Bodurtha, Joann;
Weinstein, Veronique;
Zadeh, Neda;
Alcaraz, Wendy;
Powis, Zöe;
Shao, Yunru;
Scott, Daryl;
Lewis, Andrea;
White, Janson;
Jhangiani, Shalani

Publication type:

Article

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Published in:

Human Genetics, 2016, v. 135, n. 12, p. 1299, doi. 10.1007/s00439-016-1733-z

By:

Phan, M.;
Conte, F.;
Khandelwal, K.;
Ockeloen, C.;
Bartzela, T.;
Kleefstra, T.;
Bokhoven, H.;
Rubini, M.;
Zhou, H.;
Carels, C.

Publication type:

Article

Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders.

Published in:

Human Genetics, 2016, v. 135, n. 12, p. 1329, doi. 10.1007/s00439-016-1717-z

By:

Truong, D.;
Shriberg, L.;
Smith, S.;
Chapman, K.;
Scheer-Cohen, A.;
DeMille, M.;
Adams, A.;
Nato, A.;
Wijsman, E.;
Eicher, J.;
Gruen, J.

Publication type:

Article