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
David N. Cooper and Hildegard Kehrer-Sawatzki (Eds.): Handbook of human molecular evolution.
Published in:
2009
By:
- Cobb, Matthew
Publication type:
Book Review
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
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
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