Works matching IS 14345161 AND DT 2013 AND VI 58 AND IP 12

Results: 13

Y-chromosome diversity in the Kalmyks at the ethnical and tribal levels.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 804, doi. 10.1038/jhg.2013.108

By:

Malyarchuk, Boris;
Derenko, Miroslava;
Denisova, Galina;
Khoyt, Sanj;
Woźniak, Marcin;
Grzybowski, Tomasz;
Zakharov, Ilya

Publication type:

Article

A commentary on high-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 767, doi. 10.1038/jhg.2013.115

By:

Escolar, Maria L

Publication type:

Article

A genome-wide association study of third molar agenesis in Japanese and Korean populations.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 799, doi. 10.1038/jhg.2013.106

By:

Haga, Shugo;
Nakaoka, Hirofumi;
Yamaguchi, Tetsutaro;
Yamamoto, Ken;
Kim, Yong-Il;
Samoto, Hiroshi;
Ohno, Toshihide;
Katayama, Koshu;
Ishida, Hajime;
Park, Soo-Byung;
Kimura, Ryosuke;
Maki, Koutaro;
Inoue, Ituro

Publication type:

Article

Polymorphism −2604G>A variants in TLR4 promoter are associated with different gene expression level in peripheral blood of atherosclerotic patients.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 812, doi. 10.1038/jhg.2013.98

By:

Ferronato, Silvia;
Gomez-Lira, Macarena;
Menegazzi, Marta;
Diani, Erica;
Olivato, Silvia;
Sartori, Marianna;
Scuro, Alberto;
Malerba, Giovanni;
Pignatti, Pier Franco;
Romanelli, Maria Grazia;
Mazzucco, Sara

Publication type:

Article

Novel FIG4 mutations in Yunis-Varon syndrome.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 822, doi. 10.1038/jhg.2013.104

By:

Nakajima, Junya;
Okamoto, Nobuhiko;
Shiraishi, Jun;
Nishimura, Gen;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Saitsu, Hirotomo;
Kawashima, Hisashi;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 819, doi. 10.1038/jhg.2013.101

By:

Siddiqi, Saima;
Siddiq, Saadat;
Mansoor, Atika;
Oostrik, Jaap;
Ahmad, Nafees;
Kazmi, Syed Ali Raza;
Kremer, Hannie;
Qamar, Raheel;
Schraders, Margit

Publication type:

Article

Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case-control study.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 780, doi. 10.1038/jhg.2013.102

By:

Mikami, Eri;
Fuku, Noriyuki;
Kong, Qing-Peng;
Takahashi, Hideyuki;
Ohiwa, Nao;
Murakami, Haruka;
Miyachi, Motohiko;
Higuchi, Mitsuru;
Tanaka, Masashi;
Pitsiladis, Yannis P;
Kawahara, Takashi

Publication type:

Article

A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 815, doi. 10.1038/jhg.2013.100

By:

Aimi, Yuki;
Hirayama, Tomomi;
Kataoka, Masaharu;
Momose, Yuichi;
Nishimaki, Saiko;
Matsushita, Kenichi;
Yoshino, Hideaki;
Satoh, Toru;
Gamou, Shinobu

Publication type:

Article

Endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease patients in India.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 775, doi. 10.1038/jhg.2013.99

By:

Nishank, Sudhansu Sekhar;
Singh, Mendi Prema Shyam Sunder;
Yadav, Rajiv;
Gupta, Rasik Bihari;
Gadge, Vijay Sadashiv;
Gwal, Anil

Publication type:

Article

Clinical features and management of organic acidemias in Japan.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 769, doi. 10.1038/jhg.2013.97

By:

Fujisawa, Daisuke;
Nakamura, Kimitoshi;
Mitsubuchi, Hiroshi;
Ohura, Toshihiro;
Shigematsu, Yosuke;
Yorifuji, Tohru;
Kasahara, Mureo;
Horikawa, Reiko;
Endo, Fumio

Publication type:

Article

Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 788, doi. 10.1038/jhg.2013.103

By:

Fukushima, Takao;
Kaneoka, Hidetoshi;
Yasuno, Tetsuhiko;
Sasaguri, Yukari;
Tokuyasu, Tomoko;
Tokoro, Kuniko;
Fukao, Toshiyuki;
Saito, Takao

Publication type:

Article

Polymorphisms in the UGT1A1 gene predict adverse effects of irinotecan in the treatment of gynecologic cancer in Japanese patients.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 794, doi. 10.1038/jhg.2013.105

By:

Hirasawa, Akira;
Zama, Takeru;
Akahane, Tomoko;
Nomura, Hiroyuki;
Kataoka, Fumio;
Saito, Koichiro;
Okubo, Keisuke;
Tominaga, Eiichiro;
Makita, Kazuya;
Susumu, Nobuyuki;
Kosaki, Kenjiro;
Tanigawara, Yusuke;
Aoki, Daisuke

Publication type:

Article

Polymorphisms in the UGT1A1 gene predict adverse effects of irinotecan in the treatment of gynecologic cancer in Japanese patients.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 825, doi. 10.1038/jhg.2013.110

By:

Hirasawa, Akira;
Zama, Takeru;
Akahane, Tomoko;
Nomura, Hiroyuki;
Kataoka, Fumio;
Saito, Koichiro;
Okubo, Keisuke;
Tominaga, Eiichiro;
Makita, Kazuya;
Susumu, Nobuyuki;
Kosaki, Kenjiro;
Tanigawara, Yusuke;
Aoki, Daisuke

Publication type:

Article