Works matching IS 03406717 AND DT 2009 AND VI 125 AND IP 1

Results: 13

Moyra Smith: Translational research in genetics and genomics.

Published in:

2009

By:

Morrison, Patrick J.

Publication type:

Book Review

Identification of common genetic variants that account for transcript isoform variation between human populations.

Published in:

Human Genetics, 2009, v. 125, n. 1, p. 81, doi. 10.1007/s00439-008-0601-x

By:

Wei Zhang;
Shiwei Duan;
Bleibel, Wasim K.;
Wisel, Steven A.;
Huang, R. Stephanie;
Xiaolin Wu;
Lijun He;
Clark, Tyson A.;
Chen, Tina X.;
Schweitzer, Anthony C.;
Blume, John E.;
Dolan, M. Eileen;
Cox, Nancy J.

Publication type:

Article

Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.

Published in:

Human Genetics, 2009, v. 125, n. 1, p. 95, doi. 10.1007/s00439-008-0599-0

By:

Singh, Samer;
Tokhunts, Robert;
Baubet, Valerie;
Goetz, John A.;
Huang, Zhen Jane;
Schilling, Neal S.;
Black, Kendall E.;
MacKenzie, Todd A.;
Dahmane, Nadia;
Robbins, David J.

Publication type:

Article

David N. Cooper and Hildegard Kehrer-Sawatzki (Eds.): Handbook of human molecular evolution.

Published in:

2009

By:

Cobb, Matthew

Publication type:

Book Review

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.

Published in:

Human Genetics, 2009, v. 125, n. 1, p. 53, doi. 10.1007/s00439-008-0602-9

By:

Xue-Zhong Liu;
Yongyi Yuan;
Yan, Denise;
Hong Ding, Emilie;
Xiao Mei Ouyang;
Yu Fei;
Wenxue Tang;
Huijun Yuan;
Qing Chang;
Li Lin Du;
Xin Zhang;
Guojian Wang;
Ahmad, Shoeb;
Dong Yang Kang;
Xi Lin;
Pu Dai

Publication type:

Article

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Published in:

Human Genetics, 2009, v. 125, n. 1, p. 29, doi. 10.1007/s00439-008-0598-1

By:

Alías, Laura;
Bernal, Sara;
Fuentes-Prior, Pablo;
Barceló, María Jesus;
Also, Eva;
Martínez-Hernández, Rebeca;
Rodríguez-Alvarez, Francisco J.;
Martín, Yolanda;
Aller, Elena;
Grau, Elena;
Peciña, Ana;
Antiñolo, Guillermo;
Galán, Enrique;
Rosa, Alberto L.;
Fernández-Burriel, Miguel;
Borrego, Salud;
Millán, José M.;
Hernández-Chico, Concepción;
Baiget, Montserrat;
Tizzano, Eduardo F.

Publication type:

Article

Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.

Published in:

Human Genetics, 2009, v. 125, n. 1, p. 1, doi. 10.1007/s00439-008-0590-9

By:

Shu-Feng Lei;
Tie-Lin Yang;
Li-Jun Tan;
Xiang-Ding Chen;
Yan Guo;
Yan-Fang Guo;
Liang Zhang;
Xiao-Gang Liu;
Han Yan;
Feng Pan;
Zhi-Xin Zhang;
Yu-Mei Peng;
Qi Zhou;
Li-Na He;
Xue-Zhen Zhu;
Jing Cheng;
Yao-Zhong Liu;
Papasian, Christopher;
Hong-Wen Deng

Publication type:

Article

Associations of PLA2G7 gene polymorphisms with plasma lipoprotein-associated phospholipase A2 activity and coronary heart disease in a Chinese Han population: the Beijing atherosclerosis study.

Published in:

Human Genetics, 2009, v. 125, n. 1, p. 11, doi. 10.1007/s00439-008-0587-4

By:

Liping Hou;
Shufeng Chen;
Hongjiang Yu;
Xiangfeng Lu;
Jianhong Chen;
Laiyuan Wang;
Jianfeng Huang;
Zhongjie Fan;
Dongfeng Gu

Publication type:

Article

The association of SNPs in ADIPOQ, ADIPOR1, and ADIPOR2 with insulin sensitivity in a cohort of adolescents and their parents.

Published in:

Human Genetics, 2009, v. 125, n. 1, p. 21, doi. 10.1007/s00439-008-0595-4

By:

Rasmussen-Torvik, Laura J.;
Pankow, James S.;
Jacobs Jr, David R.;
Steinberger, Julia;
Moran, Antoinette;
Sinaiko, Alan R.

Publication type:

Article

The woman who walked into the sea: Huntington’s and the making of a genetic disease.

Published in:

2009

By:

Harper, Peter S.

Publication type:

Book Review

A genetic association study in the Gambia using tagging polymorphisms in the major histocompatibility complex class III region implicates a HLA-B associated transcript 2 polymorphism in severe malaria susceptibility.

Published in:

Human Genetics, 2009, v. 125, n. 1, p. 105, doi. 10.1007/s00439-008-0597-2

By:

Diakite, Mahamadou;
Clark, Taane G.;
Auburn, Sarah;
Campino, Susana;
Fry, Andrew E.;
Green, Angela;
Morris, Andrew P.;
Richardson, Anna;
Jallow, Muminatou;
Sisay-Joof, Fatou;
Pinder, Margaret;
Kwiatkowski, Dominic P.;
Rockett, Kirk A.

Publication type:

Article

Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects.

Published in:

Human Genetics, 2009, v. 125, n. 1, p. 41, doi. 10.1007/s00439-008-0603-8

By:

Allen, Emily Graves;
Freeman, Sallie B.;
Druschel, Charlotte;
Hobbs, Charlotte A.;
O'Leary, Leslie A.;
Romitti, Paul A.;
Royle, Marjorie H.;
Torfs, Claudine P.;
Sherman, Stephanie L.

Publication type:

Article

Pathways-based analyses of whole-genome association study data in bipolar disorder reveal genes mediating ion channel activity and synaptic neurotransmission.

Published in:

Human Genetics, 2009, v. 125, n. 1, p. 63, doi. 10.1007/s00439-008-0600-y

By:

Askland, Kathleen;
Read, Cynthia;
Moore, Jason

Publication type:

Article