Journal of Human Genetics - Table of Contents alert Volume 57 Issue 9

TABLE OF CONTENTS Volume 57, Issue 9 (September 2012) In this issue Commentaries Review Original Articles Short Communications Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Visit the Medical Genomics Series Web Focus on Neuropsychiatric Disease The Journal of Human Genetics is proud to present the Medical Genomics Series Web Focus on Neuropsychiatric Disease - a collection of the latest original and review articles on neurological and psychiatric diseases Access the Web Focus today!   Commentaries Top Patient-derived iPS cells for unveiling the molecular pathology of Pelizaeus-Merzbacher disease: a commentary on ‘Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus–Merzbacher disease patient with a partial PLP1 duplication’ Ken Inoue J Hum Genet 2012 57: 553-554; advance online publication, July 12, 2012; 10.1038/jhg.2012.85 Full Text A Commentary on ‘Four novel C20ORF54 mutations identified in Brown–Vialetto–Van Laere syndrome patients.’ Henry Houlden J Hum Genet 2012 57: 555; advance online publication, July 12, 2012; 10.1038/jhg.2012.88 Full Text Review Top The functional significance of microRNA-375 in human squamous cell carcinoma: aberrant expression and effects on cancer pathways Takashi Kinoshita, Toyoyuki Hanazawa, Nijiro Nohata, Yoshitaka Okamoto and Naohiko Seki J Hum Genet 2012 57: 556-563; advance online publication, June 21, 2012; 10.1038/jhg.2012.75 Abstract | Full Text Original Articles Top Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study Harald Hofer, Claudia Willheim-Polli, Peter Knoflach, Christian Gabriel, Wolfgang Vogel, Michael Trauner, Thomas Müller and Peter Ferenci J Hum Genet 2012 57: 564-567; advance online publication, July 5, 2012; 10.1038/jhg.2012.65 Abstract | Full Text Admixture and population structure in Mexican-Mestizos based on paternal lineages Gabriela Martínez-Cortés, Joel Salazar-Flores, Laura Gabriela Fernández-Rodríguez, Rodrigo Rubi-Castellanos, Carmen Rodríguez-Loya, Jesús Salvador Velarde-Félix, José Franciso Muñoz-Valle, Isela Parra-Rojas and Héctor Rangel-Villalobos J Hum Genet 2012 57: 568-574; advance online publication, July 26, 2012; 10.1038/jhg.2012.67 Abstract | Full Text High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients Kent Doi, Eisei Noiri, Tomoko Ishizu, Kousuke Negishi, Yoshifumi Suzuki, Yoshifumi Hamasaki, Kenjiro Honda, Toshiro Fujita, Takahiro Tsukimura, Tadayasu Togawa, Seiji Saito and Hitoshi Sakuraba J Hum Genet 2012 57: 575-579; advance online publication, June 14, 2012; 10.1038/jhg.2012.68 Abstract | Full Text Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus–Merzbacher disease patient with a partial PLP1 duplication Keiko Shimojima, Takahito Inoue, Yuki Imai, Yasuhiro Arai, Yuta Komoike, Midori Sugawara, Takako Fujita, Hiroshi Ideguchi, Sawa Yasumoto, Hitoshi Kanno, Shinichi Hirose and Toshiyuki Yamamoto J Hum Genet 2012 57: 580-586; advance online publication, June 14, 2012; 10.1038/jhg.2012.71 Abstract | Full Text TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion Hideaki Moteki, Shin-ya Nishio, Shigenari Hashimoto, Yutaka Takumi, Satoshi Iwasaki, Norihito Takeichi, Satoshi Fukuda and Shin-ichi Usami J Hum Genet 2012 57: 587-592; advance online publication, June 21, 2012; 10.1038/jhg.2012.73 Abstract | Full Text Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination Keiko Shimojima, Nobuhiko Okamoto, Yume Suzuki, Mari Saito, Masato Mori, Tatanori Yamagata, Mariko Y Momoi, Hideji Hattori, Yoshiyuki Okano, Ken Hisata, Akihisa Okumura and Toshiyuki Yamamoto J Hum Genet 2012 57: 593-600; advance online publication, June 21, 2012; 10.1038/jhg.2012.77 Abstract | Full Text A novel test of informative missingness using inconsistent linkage disequilibrium signals between case-parent triads and incomplete data Chao-Yu Guo J Hum Genet 2012 57: 601-609; advance online publication, June 28, 2012; 10.1038/jhg.2012.78 Abstract | Full Text Short Communications Top Mitochondrial haplogroup C in ancient mitochondrial DNA from Ukraine extends the presence of East Eurasian genetic lineages in Neolithic Central and Eastern Europe Alexey G Nikitin, Jeremy R Newton and Inna D Potekhina J Hum Genet 2012 57: 610-612; advance online publication, June 7, 2012; 10.1038/jhg.2012.69 Abstract | Full Text Four novel C20orf54 mutations identified in Brown–Vialetto–Van Laere syndrome patients Mitra Ansari Dezfouli, Samira Yadegari, Shahriar Nafissi and Elahe Elahi J Hum Genet 2012 57: 613-617; advance online publication, June 21, 2012; 10.1038/jhg.2012.70 Abstract | Full Text Advertisement Call for Abstracts ends on 15 October 2012 Jointly organised by the Human Genome Organisation and the International Genetics Federation, the Joint Conference of HGM 2013 and 21st International Congress of Genetics will be held in Singapore from 13-18 April 2013. Submit your abstracts by 15 October 2012. Visit www.hgm2013-icg.org for details on programme and speakers.   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. 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