Works matching IS 03406717 AND DT 2011 AND VI 129 AND IP 3

Results: 13

Erratum to: Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome.

Published in:

2011

By:

Mehmood, Tahir;
Schneider, Anne;
Sibille, Jérémie;
Marques Pereira, Patricia;
Pannetier, Solange;
Ammar, Mohamed;
Dembele, Doulaye;
Thibault-Carpentier, Christelle;
Rouach, Nathalie;
Hanauer, André

Publication type:

Correction Notice

Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.

Published in:

Human Genetics, 2011, v. 129, n. 3, p. 307, doi. 10.1007/s00439-010-0925-1

By:

Lo, Ken Sin;
Wilson, James G.;
Lange, Leslie A.;
Folsom, Aaron R.;
Galarneau, Geneviève;
Ganesh, Santhi K.;
Grant, Struan F. A.;
Keating, Brendan J.;
McCarroll, Steven A.;
Mohler III, Emile R.;
O'Donnell, Christopher J.;
Palmas, Walter;
Weihong Tang;
Tracy, Russell P.;
Reiner, Alexander P.;
Lettre, Guillaume

Publication type:

Article

A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3.

Published in:

Human Genetics, 2011, v. 129, n. 3, p. 329, doi. 10.1007/s00439-010-0929-x

By:

Jing Luan;
Zhenmin Niu;
Jing Zhang;
Meredith E. Crosby;
Zhenghua Zhang;
Xun Chu;
Zhimin Wang;
Wei Huang;
Leihong Xiang;
Zhizhong Zheng

Publication type:

Article

Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18.

Published in:

Human Genetics, 2011, v. 129, n. 3, p. 295, doi. 10.1007/s00439-010-0923-3

By:

Koide, Keiko;
Slonim, Donna K.;
Johnson, Kirby L.;
Tantravahi, Umadevi;
Cowan, Janet M.;
Bianchi, Diana W.

Publication type:

Article

Germline PKHD1 mutations are protective against colorectal cancer.

Published in:

Human Genetics, 2011, v. 129, n. 3, p. 345, doi. 10.1007/s00439-011-0950-8

By:

Ward, Christopher J.;
Wu, Yanhong;
Johnson, Ruth A.;
Woollard, John R.;
Bergstralh, Eric J.;
Cicek, Mine S.;
Bakeberg, Jason;
Rossetti, Sandro;
Heyer, Christina M.;
Petersen, Gloria M.;
Lindor, Noralene N.;
Thibodeau, Stephen;
Harris, Peter C.;
Torres, Vicente E.;
Hogan, Marie C.;
Boardman, Lisa A.

Publication type:

Article

Insight into the biochemical characteristics of a novel glucokinase gene mutation.

Published in:

Human Genetics, 2011, v. 129, n. 3, p. 231, doi. 10.1007/s00439-010-0914-4

By:

Yunfeng Shen;
Mengyin Cai;
Hua Liang;
Hongwei Wang;
Jianping eng

Publication type:

Article

Significant association of SNP rs2106261 in the ZFHX3 gene with atrial fibrillation in a Chinese Han GeneID population.

Published in:

Human Genetics, 2011, v. 129, n. 3, p. 239, doi. 10.1007/s00439-010-0912-6

By:

Cong Li;
Fan Wang;
Yanzong Yang;
Fenfen Fu;
Chengqi Xu;
Lisong Shi;
Sisi Li;
Yunlong Xia;
Gang Wu;
Xiang Cheng;
Hui Liu;
Chuchu Wang;
Pengyun Wang;
Jianjun Hao;
Yuhe Ke;
Yuanyuan Zhao;
Mugen Liu;
Rongfeng Zhang;
Lianjun Gao;
Yu, Bo

Publication type:

Article

Genetic variants in telomere-maintaining genes and skin cancer risk.

Published in:

Human Genetics, 2011, v. 129, n. 3, p. 247, doi. 10.1007/s00439-010-0921-5

By:

Nan, Hongmei;
Qureshi, Abrar A.;
Prescott, Jennifer;
Vivo, Immaculata De;
Han, Jiali

Publication type:

Article

Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome.

Published in:

Human Genetics, 2011, v. 129, n. 3, p. 255, doi. 10.1007/s00439-010-0918-0

By:

Mehmood, Tahir;
Schneider, Anne;
Sibillec, Jérémie;
Marques Pereira, Patricia;
Pannetier, Solange;
Ammar, Mohamed Raafet;
Dembele, Doulaye;
Thibault-Carpentier, Christelle;
Rouach, Nathalie;
Hanauer, André

Publication type:

Article

Investigation of 15 of the top candidate genes for late-onset Alzheimer's disease.

Published in:

Human Genetics, 2011, v. 129, n. 3, p. 273, doi. 10.1007/s00439-010-0924-2

By:

Belbin, Olivia;
Carrasquillo, Minerva M.;
Crump, Michael;
Culley, Oliver J.;
Hunter, Talisha A.;
Ma, Li;
Bisceglio, Gina;
Zou, Fanggeng;
Allen, Mariet;
Dickson, Dennis W.;
Graff-Radford, Neill R.;
Petersen, Ronald C.;
Morgan, Kevin;
Younkin, Steven G.

Publication type:

Article

Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes.

Published in:

Human Genetics, 2011, v. 129, n. 3, p. 283, doi. 10.1007/s00439-010-0922-4

By:

Geremek, Maciej;
Bruinenberg, Marcel;
Ziętkiewicz, Ewa;
Pogorzelski, Andrzej;
Witt, Michał;
Wijmenga, Cisca

Publication type:

Article

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

Published in:

Human Genetics, 2011, v. 129, n. 3, p. 319, doi. 10.1007/s00439-010-0928-y

By:

Wiszniewski, Wojciech;
Lewis, Richard Alan;
Stockton, David W.;
Peng, Jianlan;
Mardon, Graeme;
Rui Chen;
Lupski, James R.

Publication type:

Article

Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients.

Published in:

Human Genetics, 2011, v. 129, n. 3, p. 335, doi. 10.1007/s00439-010-0927-z

By:

Lei Yu;
Ji-Cheng Lv;
Xu-jie Zhou;
Li Zhu;
Ping Hou;
Hong Zhang

Publication type:

Article