Journal of Human Genetics - Table of Contents alert Volume 58 Issue 2

TABLE OF CONTENTS Volume 58, Issue 2 (February 2013) In this issue Commentaries Original Articles Short Communication Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Visit the Biomedical Genomics Series Web Focus on Cancer The Journal of Human Genetics is proud to present the Biomedical Genomics Series Web Focus on Cancer - a collection of the latest original and review articles from the journal that highlight the topic of cancer. Access the Web Focus today!   Commentaries Top A commentary on The diagnostic utility of exome sequencing in Joubert syndrome and related disorders Tadashi Kaname, Kumiko Yanagi and Kenji Naritomi J Hum Genet 2013 58: 57; advance online publication, November 29, 2012; 10.1038/jhg.2012.138 Full Text A Commentary on Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families Kazuma Kiyotani and Toyomasa Katagiri J Hum Genet 2013 58: 58; advance online publication, December 6, 2012; 10.1038/jhg.2012.142 Full Text Original Articles Top Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families Karine V Plourde, Yvan Labrie, Sylvie Desjardins, Pascal Belleau, Geneviève Ouellette, Francine Durocher and INHERIT BRCAs J Hum Genet 2013 58: 59-66; advance online publication, November 15, 2012; 10.1038/jhg.2012.127 Abstract | Full Text Mutational analysis of ATP7B in north Chinese patients with Wilson disease Kui Li, Wei-Min Zhang, Sheng Lin, Lu Wen, Zi-Feng Wang, Dan Xie, Min Wei, Zheng-Qing Qiu, Yi Dai, Marie C M Lin, Hsiang-Fu Kung and Feng-Xia Yao J Hum Genet 2013 58: 67-72; advance online publication, December 13, 2012; 10.1038/jhg.2012.134 Abstract | Full Text Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations Young Bae Sohn, Cha Gon Lee, Jung Min Ko, Jung-Ah Yang, Jun-No Yun, Eun-Jung Jung, Hyun-Seok Jin, Sang-Jin Park and Seon Yong Jeong J Hum Genet 2013 58: 73-77; advance online publication, November 29, 2012; 10.1038/jhg.2012.135 Abstract | Full Text Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene Ana Peixoto, Manuela Pinheiro, Lígia Massena, Catarina Santos, Pedro Pinto, Patrícia Rocha, Carla Pinto and Manuel R Teixeira J Hum Genet 2013 58: 78-83; advance online publication, December 6, 2012; 10.1038/jhg.2012.137 Abstract | Full Text OPRM1 genetic polymorphisms are associated with the plasma nicotine metabolite cotinine concentration in methadone maintenance patients: a cross sectional study Yu-Ting Chen, Hsiao-Hui Tsou, Hsiang-Wei Kuo, Chiu-Ping Fang, Sheng-Chang Wang, Ing-Kang Ho, Yao-Sheng Chang, Chia-Hui Chen, Chin-Fu Hsiao, Hsiao-Yu Wu, Keh-Ming Lin, Andrew CH Chen, Jyy-Jih Tsai-Wu and Yu-Li Liu J Hum Genet 2013 58: 84-90; advance online publication, December 6, 2012; 10.1038/jhg.2012.139 Abstract | Full Text Comprehensive DNA methylation analysis of peripheral blood cells derived from patients with first-episode schizophrenia Masaki Nishioka, Miki Bundo, Shinsuke Koike, Ryu Takizawa, Chihiro Kakiuchi, Tsuyoshi Araki, Kiyoto Kasai and Kazuya Iwamoto J Hum Genet 2013 58: 91-97; advance online publication, December 13, 2012; 10.1038/jhg.2012.140 Abstract | Full Text Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21 Mohamed Ali Mosrati, Isabelle Schrauwen, Mariem Ben Saiid, Mounira Aifa-Hmani, Erik Fransen, Malek Mneja, Abdelmonem Ghorbel, Guy Van Camp and Saber Masmoudi J Hum Genet 2013 58: 98-101; advance online publication, December 13, 2012; 10.1038/jhg.2012.141 Abstract | Full Text Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population Zil-e-Huma Bashir, Noreen Latief, Inna A Belyantseva, Farheena Iqbal, Sheikh Amer Riazuddin, Shaheen N Khan, Thomas B Friedman, Sheikh Riazuddin and Saima Riazuddin J Hum Genet 2013 58: 102-108; advance online publication, December 13, 2012; 10.1038/jhg.2012.143 Abstract | Full Text Association of the formiminotransferase N-terminal sub-domain containing gene and thrombospondin, type 1, domain-containing 7A gene with the prevalence of vertebral fracture in 2427 consecutive autopsy cases Heying Zhou, Seijiro Mori, Ikuyo Kou, Noriyuki Fuku, Makiko Naka Mieno, Naoko Honma, Tomio Arai, Motoji Sawabe, Masashi Tanaka, Shiro Ikegawa and Hideki Ito J Hum Genet 2013 58: 109-112; advance online publication, January 10, 2013; 10.1038/jhg.2012.145 Abstract | Full Text Short Communication Top The diagnostic utility of exome sequencing in Joubert syndrome and related disorders Yoshinori Tsurusaki, Yasuko Kobayashi, Masataka Hisano, Shuichi Ito, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto and Noriko Miyake J Hum Genet 2013 58: 113-115; advance online publication, October 4, 2012; 10.1038/jhg.2012.117 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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