Journal of Human Genetics - Table of Contents alert Volume 57 Issue 2

TABLE OF CONTENTS Volume 57, Issue 2 (February 2012) In this issue Commentaries Review Original Articles Correspondence Also new AOP Advertisement Accelerate Your Next-Generation Sequencing Sample QC. The new Agilent 2200 TapeStation system offers researchers a new level of confidence in their sample and library quality control. Designed for scalability, speed and simplicity, the system provides results in approximately one minute per sample, even for 96 samples. Read about our special introductory offer and download free information kit now. Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Access IBMS BoneKEy The premier online knowledge environment for bone health. As a registered user of Nature Publishing Group, you now have access to IBMS BoneKEy. This new platform features webinars, commentaries, BoneKEy Community, BoneKEy Genetics Portal, BoneKEy Reports and much more.   Commentaries Top A commentary on Implication of gene copy number variation in health and diseases Tadashi Kaname J Hum Genet 2012 57: 79-80; advance online publication, December 8, 2011; 10.1038/jhg.2011.140 Full Text Mechanism of complex gross chromosomal rearrangements: A commentary on Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation Hiroki Kurahashi, Tamae Ohye, Hidehito Inagaki, Hiroshi Kogo and Makiko Tsutsumi J Hum Genet 2012 57: 81-83; advance online publication, December 15, 2011; 10.1038/jhg.2011.143 Full Text Review Top Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell Shin-ichi Tomizawa and Hiroyuki Sasaki J Hum Genet 2012 57: 84-91; advance online publication, January 12, 2012; 10.1038/jhg.2011.151 Abstract | Full Text Original Articles Top CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements Ikhlass Hadj Salem, Ines Hsairi, Najla Mezghani, Houda Kenoun, Chahnez Triki and Faiza Fakhfakh J Hum Genet 2012 57: 92-100; advance online publication, December 8, 2011; 10.1038/jhg.2011.129 Abstract | 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: 101-108; advance online publication, December 1, 2011; 10.1038/jhg.2011.132 Abstract | Full Text Association of adiponectin polymorphism with cord blood adiponectin concentrations and intrauterine growth Makoto Saito, Tomohiro Kamoda, Kazunori Nishimura, Yayoi Miyazono, Yu Kanai, Yoshiaki Kato, Atsushi Iwabuchi, Hiroko Fukushima, Hiromi Hamada, Tadao Arinami, Ryo Sumazaki and Emiko Noguchi J Hum Genet 2012 57: 109-114; advance online publication, November 24, 2011; 10.1038/jhg.2011.134 Abstract | Full Text Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci Anna Svenningsson, Cilla Söderhäll, Sofia Persson, Fredrik Lundberg, Holger Luthman, Eddie Chung, Mark Gardiner, Ingrid Kockum and Agneta Nordenskjöld J Hum Genet 2012 57: 115-121; advance online publication, December 8, 2011; 10.1038/jhg.2011.137 Abstract | Full Text Phenotype–phenotype and genotype–phenotype correlations in patients with idiopathic superior oblique muscle palsy Sayuri Imai Ohkubo, Toshihiko Matsuo, Kayoko Hasebe, Yoshie Hirai Shira, Emi Itoshima and Hiroshi Ohtsuki J Hum Genet 2012 57: 122-129; advance online publication, December 15, 2011; 10.1038/jhg.2011.138 Abstract | Full Text Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer Wen-Hong Kuo, Po-Han Lin, Ai-Chu Huang, Yin-Hsiu Chien, Tsang-Pai Liu, Yen-Shen Lu, Li-Yuan Bai, Aaron M Sargeant, Ching-Hung Lin, Ann-Lii Cheng, Fon-Jou Hsieh, Wuh-Liang Hwu and King-Jen Chang J Hum Genet 2012 57: 130-138; advance online publication, January 26, 2012; 10.1038/jhg.2011.142 Abstract | Full Text Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population Min-Jung Song, Seung-Tae Lee, Mi-Kyung Lee, Yongick Ji, Jong-Won Kim and Chang-Seok Ki J Hum Genet 2012 57: 139-144; advance online publication, December 15, 2011; 10.1038/jhg.2011.144 Abstract | Full Text Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations Yen-Hui Chiu, Ying-Chen Chang, Yu-Hsin Chang, Dau-Ming Niu, Yan-Ling Yang, Jun Ye, Jianhui Jiang, Yoshiyuki Okano, Dong Hwan Lee, Suthipong Pangkanon, Chulaluck Kuptanon, Ngu Lock Hock, Mary Anne Chiong, Barbra V Cavan, Kwang-Jen Hsiao and Tze-Tze Liu J Hum Genet 2012 57: 145-152; advance online publication, January 12, 2012; 10.1038/jhg.2011.146 Abstract | Full Text Correspondence Top Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features Sonia Mayo, Intza Garin, Sandra Monfort, Mónica Roselló, Carmen Orellana, Silvestre Oltra, Celia Zazo, Guiomar Perez de Naclares and Francisco Martínez J Hum Genet 2012 57: 153-156; advance online publication, January 5, 2012; 10.1038/jhg.2011.145 Full Text Advertisement Visit the Medical Genomics Series Web Focus on Cardiovascular Disease The Journal of Human Genetics is proud to present the Medical Genomics Series Web Focus on Cardiovascular Disease - a collection of the latest original and review articles on cardiovascular diseases, such as myocardial infarction, stroke, atherosclerosis, aortic aneurysm, heart failure and hypertension. 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