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 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
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
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
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
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
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
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
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