Works matching IS 03406717 AND DT 2014 AND VI 133 AND IP 6

Results: 13

A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding.

Published in:

Human Genetics, 2014, v. 133, n. 6, p. 801, doi. 10.1007/s00439-014-1422-8

By:

Zeng, Tao;
Dong, Zhao-Fei;
Liu, Shu-Jing;
Wan, Rui-Ping;
Tang, Ling-Jia;
Liu, Ting;
Zhao, Qi-Hua;
Shi, Yi-Wu;
Yi, Yong-Hong;
Liao, Wei-Ping;
Long, Yue-Sheng

Publication type:

Article

Lyle Armstrong: Epigenetics.

Published in:

2014

By:

Temple, I.

Publication type:

Book Review

Cancer genomics identifies disrupted epigenetic genes.

Published in:

Human Genetics, 2014, v. 133, n. 6, p. 713, doi. 10.1007/s00439-013-1373-5

By:

Simó-Riudalbas, Laia;
Esteller, Manel

Publication type:

Article

Identification of rare genetic variants in novel loci associated with Paget's disease of bone.

Published in:

Human Genetics, 2014, v. 133, n. 6, p. 755, doi. 10.1007/s00439-013-1409-x

By:

Beauregard, Mariejka;
Gagnon, Edith;
Guay-Bélanger, Sabrina;
Morissette, Jean;
Brown, Jacques;
Michou, Laëtitia

Publication type:

Article

Genomics meets proteomics: identifying the culprits in disease.

Published in:

Human Genetics, 2014, v. 133, n. 6, p. 689, doi. 10.1007/s00439-013-1376-2

By:

Stunnenberg, Hendrik;
Hubner, Nina

Publication type:

Article

The grammar of transcriptional regulation.

Published in:

Human Genetics, 2014, v. 133, n. 6, p. 701, doi. 10.1007/s00439-013-1413-1

By:

Weingarten-Gabbay, Shira;
Segal, Eran

Publication type:

Article

Determining causality and consequence of expression quantitative trait loci.

Published in:

Human Genetics, 2014, v. 133, n. 6, p. 727, doi. 10.1007/s00439-014-1446-0

By:

Battle, A.;
Montgomery, S.

Publication type:

Article

Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders.

Published in:

Human Genetics, 2014, v. 133, n. 6, p. 781, doi. 10.1007/s00439-013-1416-y

By:

Waltes, Regina;
Duketis, Eftichia;
Knapp, Michael;
Anney, Richard;
Huguet, Guillaume;
Schlitt, Sabine;
Jarczok, Tomasz;
Sachse, Michael;
Kämpfer, Laura;
Kleinböck, Tina;
Poustka, Fritz;
Bölte, Sven;
Schmötzer, Gabriele;
Voran, Anette;
Huy, Ellen;
Meyer, Jobst;
Bourgeron, Thomas;
Klauck, Sabine;
Freitag, Christine;
Chiocchetti, Andreas

Publication type:

Article

Analysis of coding variants identified from exome sequencing resources for association with diabetic and non-diabetic nephropathy in African Americans.

Published in:

Human Genetics, 2014, v. 133, n. 6, p. 769, doi. 10.1007/s00439-013-1415-z

By:

Cooke Bailey, Jessica;
Palmer, Nicholette;
Ng, Maggie;
Bonomo, Jason;
Hicks, Pamela;
Hester, Jessica;
Langefeld, Carl;
Freedman, Barry;
Bowden, Donald

Publication type:

Article

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

Published in:

Human Genetics, 2014, v. 133, n. 6, p. 737, doi. 10.1007/s00439-013-1406-0

By:

Thorson, Willa;
Diaz-Horta, Oscar;
Foster, Joseph;
Spiliopoulos, Michail;
Quintero, Rubén;
Farooq, Amjad;
Blanton, Susan;
Tekin, Mustafa

Publication type:

Article

Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice.

Published in:

Human Genetics, 2014, v. 133, n. 6, p. 743, doi. 10.1007/s00439-013-1407-z

By:

Liu, Chunhong;
Morishima, Masae;
Jiang, Xiaoling;
Yu, Tao;
Meng, Kai;
Ray, Debjit;
Pao, Annie;
Ye, Ping;
Parmacek, Michael;
Yu, Y.

Publication type:

Article

Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin-Beck disease.

Published in:

Human Genetics, 2014, v. 133, n. 6, p. 793, doi. 10.1007/s00439-014-1418-4

By:

Zhang, Feng;
Guo, Xiong;
Zhang, Yinping;
Wen, Yan;
Wang, Weizhuo;
Wang, Sen;
Yang, Tielin;
Shen, Hui;
Chen, Xiangding;
Tian, Qing;
Tan, Lijun;
Deng, Hong-Wen

Publication type:

Article

Genomics of alternative splicing: evolution, development and pathophysiology.

Published in:

Human Genetics, 2014, v. 133, n. 6, p. 679, doi. 10.1007/s00439-013-1411-3

By:

Gamazon, Eric;
Stranger, Barbara

Publication type:

Article