Works matching IS 14345161 AND DT 2011 AND VI 56 AND IP 6

Results: 14

Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 460, doi. 10.1038/jhg.2011.41

By:

Wang, Wei;
Huang, Lijun;
Ma, Qiuling;
Xiao, Deqian;
Chen, Xiaodan;
Yang, Zhigang;
Wang, Xiaoying;
Zhou, Keyuan;
Li, Gang;
Xiao, Man;
Du, Guankui;
Hao, Xinbao;
Cai, Wangwei

Publication type:

Article

Functional polymorphism (5-HTTLPR) in the serotonin transporter gene is associated with subjective well-being: evidence from a US nationally representative sample.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 456, doi. 10.1038/jhg.2011.39

By:

De Neve, Jan-Emmanuel

Publication type:

Article

Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 467, doi. 10.1038/jhg.2011.31

By:

Saito, Seiji;
Ohno, Kazuki;
Sakuraba, Hitoshi

Publication type:

Article

Identification of an autosomal dominant locus for intracranial aneurysm through a model-based family collection in a geographically limited area.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 464, doi. 10.1038/jhg.2011.27

By:

Kim, Chul-Jin;
Park, Seung Soo;
Lee, Hyun-Seo;
Chung, Hea-Jong;
Choi, Woori;
Chung, Jin-Ho;
Kim, Jin-Man;
Hong, Seong-Tshool

Publication type:

Article

Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 469, doi. 10.1038/jhg.2011.37

By:

Jeong, Seon-Yong;
Kim, Seo-Jin;
Yang, Jeong-A;
Hong, Ji-Hee;
Lee, Su-Jin;
Kim, Hyon J

Publication type:

Article

Evaluation of the association between polymorphisms at the DRD2 locus and stuttering.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 472, doi. 10.1038/jhg.2011.29

By:

Kang, Changsoo;
Domingues, Bianca Santos;
Sainz, Eduardo;
Domingues, Carlos Eduardo Frigério;
Drayna, Dennis;
Moretti-Ferreira, Danilo

Publication type:

Article

Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 440, doi. 10.1038/jhg.2011.36

By:

Tajima, Youichi;
Saito, Seiji;
Ohno, Kazuki;
Tsukimura, Takahiro;
Tsujino, Seiichi;
Sakuraba, Hitoshi

Publication type:

Article

Factors affecting the effective number of tests in genetic association studies: a comparative study of three PCA-based methods.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 428, doi. 10.1038/jhg.2011.34

By:

Wen, Shu-Hui;
Lu, Zhi-Sheng

Publication type:

Article

Evaluation of next-generation sequencing software in mapping and assembly.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 406, doi. 10.1038/jhg.2011.43

By:

Bao, Suying;
Jiang, Rui;
Kwan, WingKeung;
Wang, BinBin;
Ma, Xu;
Song, You-Qiang

Publication type:

Article

Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 436, doi. 10.1038/jhg.2011.35

By:

Kumar, Vinod;
Matsuo, Keitaro;
Takahashi, Atsushi;
Hosono, Naoya;
Tsunoda, Tatsuhiko;
Kamatani, Naoyuki;
Kong, Sun-Young;
Nakagawa, Hidewaki;
Cui, Ri;
Tanikawa, Chizu;
Seto, Masao;
Morishima, Yasuo;
Kubo, Michiaki;
Nakamura, Yusuke;
Matsuda, Koichi

Publication type:

Article

A Commentary on For what am I participating? The need for communication after receiving consent from biobanking project participants: experience in Japan.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 405, doi. 10.1038/jhg.2011.47

By:

Yamamoto, Midori;
Hata, Akira

Publication type:

Article

HLA-C, CSTA and DS12346 susceptibility alleles confer over 100-fold increased risk of developing psoriasis: evidence of gene interaction.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 423, doi. 10.1038/jhg.2011.33

By:

Vasilopoulos, Yiannis;
Sagoo, Gurdeep S;
Cork, Michael J;
Walters, Kevin;
Tazi-Ahnini, Rachid

Publication type:

Article

Analysis of CYP3A4 genetic polymorphisms in Han Chinese.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 415, doi. 10.1038/jhg.2011.30

By:

Zhou, Qing;
Yu, Xiaomin;
Shu, Chang;
Cai, Yimei;
Gong, Wei;
Wang, Xumin;
Wang, Duen-mei;
Hu, Songnian

Publication type:

Article

Gene-gene interactions contribute to eye colour variation in humans.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 6, p. 447, doi. 10.1038/jhg.2011.38

By:

Pośpiech, Ewelina;
Draus-Barini, Jolanta;
Kupiec, Tomasz;
Wojas-Pelc, Anna;
Branicki, Wojciech

Publication type:

Article