Journal of Human Genetics - Table of Contents alert Volume 58 Issue 12

TABLE OF CONTENTS Volume 58, Issue 12 (December 2013) In this issue Commentary Original Articles Short Communications Erratum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Commentary Top A commentary on high-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II Maria L Escolar J Hum Genet 2013 58: 767-768; advance online publication, November 14, 2013; 10.1038/jhg.2013.115 Full Text Original Articles Top Clinical features and management of organic acidemias in Japan Daisuke Fujisawa, Kimitoshi Nakamura, Hiroshi Mitsubuchi, Toshihiro Ohura, Yosuke Shigematsu, Tohru Yorifuji, Mureo Kasahara, Reiko Horikawa and Fumio Endo J Hum Genet 2013 58: 769-774; advance online publication, September 26, 2013; 10.1038/jhg.2013.97 Abstract | Full Text Endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease patients in India Sudhansu Sekhar Nishank, Mendi Prema Shyam Sunder Singh, Rajiv Yadav, Rasik Bihari Gupta, Vijay Sadashiv Gadge and Anil Gwal J Hum Genet 2013 58: 775-779; advance online publication, October 3, 2013; 10.1038/jhg.2013.99 Abstract | Full Text Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case–control study Eri Mikami, Noriyuki Fuku, Qing-Peng Kong, Hideyuki Takahashi, Nao Ohiwa, Haruka Murakami, Motohiko Miyachi, Mitsuru Higuchi, Masashi Tanaka, Yannis P Pitsiladis and Takashi Kawahara J Hum Genet 2013 58: 780-787; advance online publication, October 10, 2013; 10.1038/jhg.2013.102 Abstract | Full Text Three novel mutations in the carnitine–acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals Takao Fukushima, Hidetoshi Kaneoka, Tetsuhiko Yasuno, Yukari Sasaguri, Tomoko Tokuyasu, Kuniko Tokoro, Toshiyuki Fukao and Takao Saito J Hum Genet 2013 58: 788-793; advance online publication, October 3, 2013; 10.1038/jhg.2013.103 Abstract | Full Text Polymorphisms in the UGT1A1 gene predict adverse effects of irinotecan in the treatment of gynecologic cancer in Japanese patients Akira Hirasawa, Takeru Zama, Tomoko Akahane, Hiroyuki Nomura, Fumio Kataoka, Koichiro Saito, Keisuke Okubo, Eiichiro Tominaga, Kazuya Makita, Nobuyuki Susumu, Kenjiro Kosaki, Yusuke Tanigawara and Daisuke Aoki J Hum Genet 2013 58: 794-798; advance online publication, October 3, 2013; 10.1038/jhg.2013.105 Abstract | Full Text A genome-wide association study of third molar agenesis in Japanese and Korean populations Shugo Haga, Hirofumi Nakaoka, Tetsutaro Yamaguchi, Ken Yamamoto, Yong-Il Kim, Hiroshi Samoto, Toshihide Ohno, Koshu Katayama, Hajime Ishida, Soo-Byung Park, Ryosuke Kimura, Koutaro Maki and Ituro Inoue J Hum Genet 2013 58: 799-803; advance online publication, October 31, 2013; 10.1038/jhg.2013.106 Abstract | Full Text Y-chromosome diversity in the Kalmyks at the ethnical and tribal levels Boris Malyarchuk, Miroslava Derenko, Galina Denisova, Sanj Khoyt, Marcin Woźniak, Tomasz Grzybowski and Ilya Zakharov J Hum Genet 2013 58: 804-811; advance online publication, October 17, 2013; 10.1038/jhg.2013.108 Abstract | Full Text Short Communications Top Polymorphism −2604G>A variants in TLR4 promoter are associated with different gene expression level in peripheral blood of atherosclerotic patients Silvia Ferronato, Macarena Gomez-Lira, Marta Menegazzi, Erica Diani, Silvia Olivato, Marianna Sartori, Alberto Scuro, Giovanni Malerba, Pier Franco Pignatti, Maria Grazia Romanelli and Sara Mazzucco J Hum Genet 2013 58: 812-814; advance online publication, October 10, 2013; 10.1038/jhg.2013.98 Abstract | Full Text A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension Yuki Aimi, Tomomi Hirayama, Masaharu Kataoka, Yuichi Momose, Saiko Nishimaki, Kenichi Matsushita, Hideaki Yoshino, Toru Satoh and Shinobu Gamou J Hum Genet 2013 58: 815-818; advance online publication, October 17, 2013; 10.1038/jhg.2013.100 Abstract | Full Text Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome Saima Siddiqi, Saadat Siddiq, Atika Mansoor, Jaap Oostrik, Nafees Ahmad, Syed Ali Raza Kazmi, Hannie Kremer, Raheel Qamar and Margit Schraders J Hum Genet 2013 58: 819-821; advance online publication, October 31, 2013; 10.1038/jhg.2013.101 Abstract | Full Text Novel FIG4 mutations in Yunis–Varon syndrome Junya Nakajima, Nobuhiko Okamoto, Jun Shiraishi, Gen Nishimura, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Hisashi Kawashima, Naomichi Matsumoto and Noriko Miyake J Hum Genet 2013 58: 822-824; advance online publication, October 3, 2013; 10.1038/jhg.2013.104 Abstract | Full Text Erratum Top Polymorphisms in the UGT1A1 gene predict adverse effects of irinotecan in the treatment of gynecologic cancer in Japanese patients Akira Hirasawa, Takeru Zama, Tomoko Akahane, Hiroyuki Nomura, Fumio Kataoka, Koichiro Saito, Keisuke Okubo, Eiichiro Tominaga, Kazuya Makita, Nobuyuki Susumu, Kenjiro Kosaki, Yusuke Tanigawara and Daisuke Aoki J Hum Genet 2013 58: 825; 10.1038/jhg.2013.110 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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