Journal of Human Genetics - Table of Contents alert Volume 59 Issue 3

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TABLE OF CONTENTS Volume 59, Issue 3 (March 2014) In this issue Commentary Original Articles Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Editor's Choice: what is hot in human genetics? The latest web focus of Journal of Human Genetics is an Editor's Choice of selected articles that bring together research spanning hot areas in human genetics, such as reviews of human disease, new technologies and novel mechanisms.   Access Editor's Choice web focus today!  Commentary Top A commentary on the promise of whole-exome sequencing in medical genetics Tadashi Kaname, Kumiko Yanagi and Kenji Naritomi J Hum Genet 2014 59: 117-118; advance online publication, February 6, 2014; 10.1038/jhg.2014.7 Full Text Original Articles Top Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah Lai Kuan Teh, Elizabeth George, Mei I Lai, Jin Ai Mary Anne Tan, Lily Wong and Patimah Ismail J Hum Genet 2014 59: 119-123; advance online publication, December 26, 2013; 10.1038/jhg.2013.131 Abstract | Full Text Concurrent MCL1 and JUN amplification in pseudomyxoma peritonei: a comprehensive genetic profiling and survival analysis OPEN Terence T Sio, Aaron S Mansfield, Travis E Grotz, Rondell P Graham, Julian R Molina, Florencia G Que and Robert C Miller J Hum Genet 2014 59: 124-128; advance online publication, December 26, 2013; 10.1038/jhg.2013.132 Abstract | Full Text Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2 OPEN Takahiro Nakayama, Harumasa Nakamura, Yasushi Oya, Takashi Kimura, Ichiro Imahuku, Kinji Ohno, Ichizo Nishino, Koji Abe and Tohru Matsuura J Hum Genet 2014 59: 129-133; advance online publication, January 16, 2014; 10.1038/jhg.2013.133 Abstract | Full Text Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families Yanchun Ji, Min Liang, Juanjuan Zhang, Minglian Zhang, Jinping Zhu, Xiangjuan Meng, Sai Zhang, Min Gao, Fuxin Zhao, Qi-Ping Wei, Pingping Jiang, Yi Tong, Xiaoling Liu, Jun Qin Mo and Min-Xin Guan J Hum Genet 2014 59: 134-140; advance online publication, January 16, 2014; 10.1038/jhg.2013.134 Abstract | Full Text Association of miR-146a gene polymorphism with risk of nasopharyngeal carcinoma in the central-southern Chinese population Guo-Liang Huang, Mei-Ling Chen, Ya-Zhen Li, Yan Lu, Xing-Xiang Pu, Yu-Xiang He, Shu-Yin Tang, Hua Che, Ying Zou, Congcong Ding and Zhiwei He J Hum Genet 2014 59: 141-144; advance online publication, January 16, 2014; 10.1038/jhg.2013.135 Abstract | Full Text The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population Ying Liang, Miao-Zeng Huang, Cheng-Yi Cheng, Hung-Kun Chao, Victor Tramjay Fwu, Szu-Hui Chiang, Kwang-Jen Hsiao, Dau-Ming Niu and Tsung-Sheng Su J Hum Genet 2014 59: 145-152; advance online publication, January 9, 2014; 10.1038/jhg.2013.136 Abstract | Full Text A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation Liana Veneziano, Elide Mantuano, Claudio Catalli, Cinzia Gellera, Alexandra Durr, Silvia Romano, Maria Spadaro, Marina Frontali and Andrea Novelletto J Hum Genet 2014 59: 153-157; advance online publication, January 9, 2014; 10.1038/jhg.2013.137 Abstract | Full Text Truncated UDP-glucuronosyltransferase (UGT) from a Crigler–Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum OPEN Masahiro Suzuki, Marie Hirata, Miho Takagi, Taiichi Watanabe, Tomohiro Iguchi, Kotaro Koiwai, So Maezawa and Osamu Koiwai J Hum Genet 2014 59: 158-162; advance online publication, January 9, 2014; 10.1038/jhg.2013.138 Abstract | Full Text Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses Hiroyuki Ishiura, Yuji Takahashi, Toshihiro Hayashi, Kayoko Saito, Hirokazu Furuya, Mitsunori Watanabe, Miho Murata, Mikiya Suzuki, Akira Sugiura, Setsu Sawai, Kazumoto Shibuya, Naohisa Ueda, Yaeko Ichikawa, Ichiro Kanazawa, Jun Goto and Shoji Tsuji J Hum Genet 2014 59: 163-172; advance online publication, January 23, 2014; 10.1038/jhg.2013.139 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to Journal of Human Genetics. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For print subscription enquiries, please contact our subscription department. 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