Journal of Human Genetics - Table of Contents alert Volume 57 Issue 5

TABLE OF CONTENTS Volume 57, Issue 5 (May 2012) In this issue Review Original Articles Short Communication Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Visit the Biomedical Genomics Series Web Focus on Obesity and Diabetes The Journal of Human Genetics is proud to present the Biomedical Genomics Series Web Focus on Obesity and Diabetes - a collection of the latest original and review articles on obesity and diabetes. Access the Web Focus today!   Review Top Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers? Shweta Singh and Subramaniam Ganesh J Hum Genet 2012 57: 283-285; advance online publication, March 29, 2012; 10.1038/jhg.2012.29 Abstract | Full Text Original Articles Top Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients Theerawut Phusantisampan, Surasak Sangkhathat, Amornrat Phongdara, Piyawan Chiengkriwate, Sakda Patrapinyokul and Surakameth Mahasirimongkol J Hum Genet 2012 57: 286-293; advance online publication, March 1, 2012; 10.1038/jhg.2012.18 Abstract | Full Text A unique demographic history exists for the MAO-A gene in Polynesians David A Eccles, Donia Macartney-Coxson, Geoffrey K Chambers and Rodney A Lea J Hum Genet 2012 57: 294-300; advance online publication, March 1, 2012; 10.1038/jhg.2012.19 Abstract | Full Text A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis Wallaya Jongjaroenprasert, Theerawut Phusantisampan, Surakameth Mahasirimongkol, Taisei Mushiroda, Nattiya Hirankarn, Thiti Snabboon, Suwannee Chanprasertyotin, Puntip Tantiwong, Supamai Soonthornpun, Paninee Rattanapichart, Sunee Mamanasiri, Thep Himathongkam, Boonsong Ongphiphadhanakul, Atsushi Takahashi, Naoyuki Kamatani, Michiaki Kubo and Yusuke Nakamura J Hum Genet 2012 57: 301-304; advance online publication, March 8, 2012; 10.1038/jhg.2012.20 Abstract | Full Text Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography Kikuko Hotta, Aya Kitamoto, Takuya Kitamoto, Seiho Mizusawa, Hajime Teranishi, Rina So, Tomoaki Matsuo, Yoshio Nakata, Hideyuki Hyogo, Hidenori Ochi, Takahiro Nakamura, Seika Kamohara, Nobuyuki Miyatake, Kazuaki Kotani, Ryoya Komatsu, Naoto Itoh, Ikuo Mineo, Jun Wada, Masato Yoneda, Atsushi Nakajima, Tohru Funahashi, Shigeru Miyazaki, Katsuto Tokunaga, Hiroaki Masuzaki, Takato Ueno, Kazuaki Chayama, Kazuyuki Hamaguchi, Kentaro Yamada, Toshiaki Hanafusa, Shinichi Oikawa, Hironobu Yoshimatsu, Toshiie Sakata, Kiyoji Tanaka, Yuji Matsuzawa, Kazuwa Nakao and Akihiro Sekine J Hum Genet 2012 57: 305-310; advance online publication, March 1, 2012; 10.1038/jhg.2012.21 Abstract | Full Text A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements Paola Fortugno, Fabiana Grosso, Giovanna Zambruno, Serena Pastore, Flavio Faletra and Daniele Castiglia J Hum Genet 2012 57: 311-315; advance online publication, March 1, 2012; 10.1038/jhg.2012.22 Abstract | Full Text Novel TARDBP mutations in Nordic ALS patients Huei-Hsin Chiang, Peter M Andersen, Ole-Bjørn Tysnes, Ole Gredal, Peter B Christensen and Caroline Graff J Hum Genet 2012 57: 316-319; advance online publication, March 29, 2012; 10.1038/jhg.2012.24 Abstract | Full Text Genetic variants on chromosome 6p21.1 and 6p22.3 are associated with type 2 diabetes risk: a case–control study in Han Chinese Feng Lu, Yun Qian, Huizhang Li, Meihua Dong, Yudi Lin, Jiangbo Du, Yuan Lin, Jian Chen, Chong Shen, Guangfu Jin, Juncheng Dai, Zhibin Hu and Hongbing Shen J Hum Genet 2012 57: 320-325; advance online publication, March 22, 2012; 10.1038/jhg.2012.25 Abstract | Full Text Genetic differences in the two main groups of the Japanese population based on autosomal SNPs and haplotypes Yumi Yamaguchi-Kabata, Tatsuhiko Tsunoda, Natsuhiko Kumasaka, Atsushi Takahashi, Naoya Hosono, Michiaki Kubo, Yusuke Nakamura and Naoyuki Kamatani J Hum Genet 2012 57: 326-334; advance online publication, March 29, 2012; 10.1038/jhg.2012.26 Abstract | Full Text Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome Toru Meguro, Yuki Yoshida, Makiko Hayashi, Kentaro Toyota, Tesshu Otagiri, Narutaka Mochizuki, Yumiko Kishikawa, Ayako Sasaki and Kiyoshi Hayasaka J Hum Genet 2012 57: 335-337; advance online publication, March 22, 2012; 10.1038/jhg.2012.27 Abstract | Full Text Short Communication Top Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions Shinji Ono, Koh-ichiro Yoshiura, Akira Kinoshita, Taeko Kikuchi, Yoshibumi Nakane, Nobumasa Kato, Miyuki Sadamatsu, Tohru Konishi, Shinichiro Nagamitsu, Masato Matsuura, Ayako Yasuda, Maki Komine, Kazuaki Kanai, Takeshi Inoue, Toshio Osamura, Kayoko Saito, Shinichi Hirose, Hiroyoshi Koide, Hiroaki Tomita, Hiroki Ozawa, Norio Niikawa and Naohiro Kurotaki J Hum Genet 2012 57: 338-341; advance online publication, March 8, 2012; 10.1038/jhg.2012.23 Abstract | Full Text Corrigendum Top Investigation of modifier genes within copy number variations in Rett syndrome Rosangela Artuso, Filomena T Papa, Elisa Grillo, Mafalda Mucciolo, Dag H Yasui, Keith W Dunaway, Vittoria Disciglio, Maria A Mencarelli, Marzia Pollazzon, Michele Zappella, Giuseppe Hayek, Francesca Mari, Alessandra Renieri, Janine M LaSalle and Francesca Ariani J Hum Genet 2012 57: 342-344; 10.1038/jhg.2012.30 Full Text Advertisement Nature Genetics and the Wellcome Trust present: The Genomics of Common Diseases 2012 September 19-22, 2012 - Potomac, MD, USA For more information and to register, visit: www.nature.com/natureconferences/gcd2012 Abstract submission deadline- June 28, 2012   Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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