Works matching IS 14345161 AND DT 2009 AND VI 54 AND IP 5

Results: 10

A pharmacogenetic study of CD4 recovery in response to HIV antiretroviral therapy in two South African population groups.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 261, doi. 10.1038/jhg.2009.20

By:

Parathyras, John;
Gebhardt, Stefan;
Hillermann-Rebello, Renate;
Grobbelaar, Nelis;
Venter, Mauritz;
Warnich, Louise

Publication type:

Article

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 266, doi. 10.1038/jhg.2009.21

By:

Anwar, Saima;
Riazuddin, Saima;
Ahmed, Zubair M.;
Tasneem, Saba;
Ateeq-ul-Jaleel;
Khan, Shahid Y.;
Griffith, Andrew J.;
Friedman, Thomas B.;
Riazuddin, Sheikh

Publication type:

Article

Acquisition of inverted GSTM exons by an intron of primate GSTM5 gene.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 271, doi. 10.1038/jhg.2009.23

By:

Wang, Yong;
Leung, Frederick C. C.

Publication type:

Article

The GARS gene is rarely mutated in Japanese patients with Charcot–Marie–Tooth neuropathy.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 310, doi. 10.1038/jhg.2009.25

By:

Abe, Akiko;
Hayasaka, Kiyoshi

Publication type:

Article

Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 277, doi. 10.1038/jhg.2009.26

By:

Yang, Yiqing;
Li, Jun;
Lin, Xiaoping;
Yang, Yanzong;
Hong, Kui;
Wang, Lei;
Liu, Jinqiu;
Li, Li;
Yan, Dinghong;
Liang, Dandan;
Xiao, Junjie;
Jin, Hongmei;
Wu, Jie;
Zhang, Yangyang;
Chen, Yi-Han

Publication type:

Article

Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 284, doi. 10.1038/jhg.2009.27

By:

Sura, Thanyachai;
Eu-ahsunthornwattana, Jakris;
Youngcharoen, Supak;
Busabaratana, Manisa;
Dejsuphong, Donniphat;
Trachoo, Objoon;
Theerasasawat, Supischa;
Tunteeratum, Atchara;
Noparutchanodom, Chinnakrit;
Tunlayadechanont, Supoch

Publication type:

Article

Association of LOXL1 gene with Finnish exfoliation syndrome patients.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 289, doi. 10.1038/jhg.2009.28

By:

Lemmelä, Susanna;
Forsman, Eva;
Onkamo, Päivi;
Nurmi, Hanna;
Laivuori, Hannele;
Kivelä, Tero;
Puska, Päivi;
Heger, Martin;
Eriksson, Aldur;
Forsius, Henrik;
Järvelä, Irma

Publication type:

Article

Single-nucleotide polymorphisms in the promoter of the CDK5 gene and lung cancer risk in a Korean population.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 298, doi. 10.1038/jhg.2009.29

By:

Choi, Hyo Seon;
Lee, Youngin;
Park, Kyong Hwa;
Sung, Jae Sook;
Lee, Jong-Eun;
Shin, Eun-Soon;
Ryu, Jeong-Seon;
Kim, Yeul Hong

Publication type:

Article

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 304, doi. 10.1038/jhg.2009.30

By:

Kuniba, Hideo;
Yoshiura, Koh-ichiro;
Kondoh, Tatsuro;
Ohashi, Hirofumi;
Kurosawa, Kenji;
Tonoki, Hidefumi;
Nagai, Toshiro;
Okamoto, Nobuhiko;
Kato, Mitsuhiro;
Fukushima, Yoshimitsu;
Kaname, Tadashi;
Naritomi, Kenji;
Matsumoto, Tadashi;
Moriuchi, Hiroyuki;
Kishino, Tatsuya;
Kinoshita, Akira;
Miyake, Noriko;
Matsumoto, Naomichi;
Niikawa, Norio

Publication type:

Article

Recent advance in our understanding of the molecular nature of chromosomal abnormalities.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 253, doi. 10.1038/jhg.2009.35

By:

Kurahashi, Hiroki;
Bolor, Hasbaira;
Kato, Takema;
Kogo, Hiroshi;
Tsutsumi, Makiko;
Inagaki, Hidehito;
Ohye, Tamae

Publication type:

Article