Journal of Human Genetics - Table of Contents alert Volume 57 Issue 6

TABLE OF CONTENTS Volume 57, Issue 6 (June 2012) In this issue Commentary Original Articles Short Communications Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe 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: http://www.nature.com/natureconferences/gcd2012 Abstract submission deadline- June 28, 2012   Commentary Top A Commentary on The importance of knowing from whence your PHOX2B mutation comes Casey M Rand and Debra E Weese-Mayer J Hum Genet 2012 57: 345-346; advance online publication, May 3, 2012; 10.1038/jhg.2012.44 Full Text Original Articles Top New mutations in the GLA gene in Brazilian families with Fabry disease Lauro Thiago Turaça, Juliana Gilbert Pessoa, Fabiana Louise Motta, Maria Verônica Muñoz Rojas, Karen Barbosa Müller, Charles Marques Lourenço, Wilson Junior Marques, Vania D'Almeida, Ana Maria Martins and João Bosco Pesquero J Hum Genet 2012 57: 347-351; advance online publication, May 3, 2012; 10.1038/jhg.2012.32 Abstract | Full Text Evaluating rare variants under two-stage design Qizhai Li, Dongdong Pan, Weihua Yue, Ying Gao and Kai Yu J Hum Genet 2012 57: 352-357; advance online publication, May 10, 2012; 10.1038/jhg.2012.33 Abstract | Full Text Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population Livy Alex, Jagdish Kaur Chahil, Say Hean Lye, Pramod Bagali and Lian Wee Ler J Hum Genet 2012 57: 358-362; advance online publication, April 26, 2012; 10.1038/jhg.2012.34 Abstract | Full Text Genome-wide association studies of tuberculosis in Asians identify distinct at-risk locus for young tuberculosis Surakameth Mahasirimongkol, Hideki Yanai, Taisei Mushiroda, Watoo Promphittayarat, Sukanya Wattanapokayakit, Jurairat Phromjai, Rika Yuliwulandari, Nuanjun Wichukchinda, Amara Yowang, Norio Yamada, Patcharee Kantipong, Atsushi Takahashi, Michiaki Kubo, Pathom Sawanpanyalert, Naoyuki Kamatani, Yusuke Nakamura and Katsushi Tokunaga J Hum Genet 2012 57: 363-367; advance online publication, May 3, 2012; 10.1038/jhg.2012.35 Abstract | Full Text Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy Yoshihiro Yamashita, Tohru Matsuura, Jun Shinmi, Yoshinobu Amakusa, Akio Masuda, Mikako Ito, Masanobu Kinoshita, Hirokazu Furuya, Koji Abe, Tohru Ibi, Koo Sahashi and Kinji Ohno J Hum Genet 2012 57: 368-374; advance online publication, April 19, 2012; 10.1038/jhg.2012.37 Abstract | Full Text Climatic influence on the reproductive characteristics of Japanese males Yutaka Nakahori, Youichi Sato, Ashraf A Ewis, Teruaki Iwamoto, Toshikatsu Shinka, Shiari Nozawa, Miki Yoshiike, Xin-Jun Yang, Masako Sei, Mikio Namiki, Eitetsu Kou, Naoki Ito, Kiyoshi Komatsu, Kiyomi Matsumiya and Yasuo Nakagome J Hum Genet 2012 57: 375-378; advance online publication, April 26, 2012; 10.1038/jhg.2012.38 Abstract | Full Text Genetic architecture for susceptibility to gout in the KARE cohort study Jimin Shin, Younyoung Kim, Minyoung Kong and Chaeyoung Lee J Hum Genet 2012 57: 379-384; advance online publication, April 19, 2012; 10.1038/jhg.2012.39 Abstract | Full Text Association between dopamine beta hydroxylase rs5320 polymorphism and smoking behaviour in elderly Japanese Elakeche Ella, Naomi Sato, Daisuke Nishizawa, Shinji Kageyama, Hidetaka Yamada, Nobuya Kurabe, Keiko Ishino, Hong Tao, Fumihiko Tanioka, Akiko Nozawa, Chen Renyin, Kazuya Shinmura, Kazutaka Ikeda and Haruhiko Sugimura J Hum Genet 2012 57: 385-390; advance online publication, April 19, 2012; 10.1038/jhg.2012.40 Abstract | Full Text Short Communications Top Recapitulation of genome-wide association studies on pulse pressure and mean arterial pressure in the Korean population Kyung-Won Hong, Haesook Min, Byeong-Mun Heo, Seong Eun Joo, Sung Soo Kim and Yeonjung Kim J Hum Genet 2012 57: 391-393; advance online publication, April 5, 2012; 10.1038/jhg.2012.31 Abstract | Full Text Lactase persistence may have an independent origin in Tibetan populations from Tibet, China Min-Sheng Peng, Jun-Dong He, Chun-Ling Zhu, Shi-Fang Wu, Jie-Qiong Jin and Ya-Ping Zhang J Hum Genet 2012 57: 394-397; advance online publication, May 10, 2012; 10.1038/jhg.2012.41 Abstract | Full Text Corrigendum Top Clinical features and genetic analysis of Korean patients with Loeys–Dietz syndrome Jeong Hoon Yang, Chang-Seok Ki, Hyejin Han, Bong Gun Song, Shin Yi Jang, Tae-Young Chung, Kiick Sung, Heung Jae Lee and Duk-Kyung Kim J Hum Genet 2012 57: 398; 10.1038/jhg.2012.42 Full Text 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: 399; 10.1038/jhg.2012.50 Full Text Regions of homozygosity in three Southeast Asian populations Shu-Mei Teo, Chee-Seng Ku, Agus Salim, Nasheen Naidoo, Kee-Seng Chia and Yudi Pawitan J Hum Genet 2012 57: 400; 10.1038/jhg.2012.51 Full Text Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy Yoshihiro Yamashita, Tohru Matsuura, Jun Shinmi, Yoshinobu Amakusa, Akio Masuda, Mikako Ito, Masanobu Kinoshita, Hirokazu Furuya, Koji Abe, Tohru Ibi, Ko Sahashi and Kinji Ohno J Hum Genet 2012 57: 401; 10.1038/jhg.2012.59 Full Text 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. 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