Works matching IS 03406717 AND DT 2016 AND VI 135 AND IP 11

Results: 10

FUS-linked essential tremor associated with motor dysfunction in Drosophila.

Published in:

Human Genetics, 2016, v. 135, n. 11, p. 1223, doi. 10.1007/s00439-016-1709-z

By:

Tio, Murni;
Wen, Rujing;
Lim, Yih;
Wang, Huashan;
Ling, Shuo-Chien;
Zhao, Yi;
Tan, Eng-King

Publication type:

Article

ANKS3 is mutated in a family with autosomal recessive laterality defect.

Published in:

Human Genetics, 2016, v. 135, n. 11, p. 1233, doi. 10.1007/s00439-016-1712-4

By:

Shamseldin, Hanan;
Yakulov, Toma;
Hashem, Amal;
Walz, Gerd;
Alkuraya, Fowzan

Publication type:

Article

Identification of susceptibility gene associated with female primary Sjögren's syndrome in Han Chinese by genome-wide association study.

Published in:

Human Genetics, 2016, v. 135, n. 11, p. 1287, doi. 10.1007/s00439-016-1716-0

By:

Song, I-Wen;
Chen, Hsiang-Cheng;
Lin, Yuh-Feng;
Yang, Jenn-Hwai;
Chang, Chi-Ching;
Chou, Chung-Tei;
Lee, Ming-Ta;
Chou, Yi-Chun;
Chen, Chien-Hsiun;
Chen, Yuan-Tsong;
Chen, Chen-Hung;
Wu, Jer-Yuarn

Publication type:

Article

Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.

Published in:

Human Genetics, 2016, v. 135, n. 11, p. 1241, doi. 10.1007/s00439-016-1715-1

By:

Yang, Xiaohong;
Rotunno, Melissa;
Xiao, Yanzi;
Ingvar, Christian;
Helgadottir, Hildur;
Pastorino, Lorenza;
Doorn, Remco;
Bennett, Hunter;
Graham, Cole;
Sampson, Joshua;
Malasky, Michael;
Vogt, Aurelie;
Zhu, Bin;
Bianchi-Scarra, Giovanna;
Bruno, William;
Queirolo, Paola;
Fornarini, Giuseppe;
Hansson, Johan;
Tuominen, Rainer;
Burdett, Laurie

Publication type:

Article

Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans.

Published in:

Human Genetics, 2016, v. 135, n. 11, p. 1251, doi. 10.1007/s00439-016-1714-2

By:

Guan, Meijian;
Ma, Jun;
Keaton, Jacob;
Dimitrov, Latchezar;
Mudgal, Poorva;
Stromberg, Mary;
Bonomo, Jason;
Hicks, Pamela;
Freedman, Barry;
Bowden, Donald;
Ng, Maggie

Publication type:

Article

Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations.

Published in:

Human Genetics, 2016, v. 135, n. 11, p. 1279, doi. 10.1007/s00439-016-1718-y

By:

Wu, Sijie;
Tan, Jingze;
Yang, Yajun;
Peng, Qianqian;
Zhang, Manfei;
Li, Jinxi;
Lu, Dongsheng;
Liu, Yu;
Lou, Haiyi;
Feng, Qidi;
Lu, Yan;
Guan, Yaqun;
Zhang, Zhaoxia;
Jiao, Yi;
Sabeti, Pardis;
Krutmann, Jean;
Tang, Kun;
Jin, Li;
Xu, Shuhua;
Wang, Sijia

Publication type:

Article

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.

Published in:

Human Genetics, 2016, v. 135, n. 11, p. 1263, doi. 10.1007/s00439-016-1719-x

By:

Alfadhel, Majid;
Nashabat, Marwan;
Qahtani, Hanan;
Alfares, Ahmed;
Mutairi, Fuad;
Shaalan, Hesham;
Douglas, Ganka;
Wierenga, Klaas;
Juusola, Jane;
Alrifai, Muhammad;
Arold, Stefan;
Alkuraya, Fowzan;
Ali, Qais

Publication type:

Article

A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.

Published in:

Human Genetics, 2016, v. 135, n. 11, p. 1269, doi. 10.1007/s00439-016-1720-4

By:

Drew, Alexander;
Cutrupi, Anthony;
Brewer, Megan;
Nicholson, Garth;
Kennerson, Marina

Publication type:

Article

Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.

Published in:

Human Genetics, 2016, v. 135, n. 11, p. 1295, doi. 10.1007/s00439-016-1726-y

By:

Tabarki, Brahim;
AlMajhad, Nabil;
AlHashem, Amal;
Shaheen, Ranad;
Alkuraya, Fowzan

Publication type:

Article

Whole-genome sequencing in French Canadians from Quebec.

Published in:

Human Genetics, 2016, v. 135, n. 11, p. 1213, doi. 10.1007/s00439-016-1702-6

By:

Low-Kam, Cécile;
Rhainds, David;
Lo, Ken;
Provost, Sylvie;
Mongrain, Ian;
Dubois, Anick;
Perreault, Sylvie;
Robinson, John;
Hegele, Robert;
Dubé, Marie-Pierre;
Tardif, Jean-Claude;
Lettre, Guillaume

Publication type:

Article