Monday, August 27, 2012

Journal of Human Genetics - Table of Contents alert Volume 57 Issue 8


TABLE OF CONTENTS

Volume 57, Issue 8 (August 2012)

In this issue
Commentaries
Review
Original Articles

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Commentaries

Top

Increasing evidence that genetic variation in Complement factor H related 5 (CFHR5) causes disease: A commentary on ‘Atypical haemolytic uremic syndrome and genetic aberrations in the complement factor-H-related 5 gene’

Patrick H Maxwell

J Hum Genet 2012 57: 473-474; advance online publication, June 28, 2012; 10.1038/jhg.2012.80

Full Text

A commentary on the gender-specific association of TSNAX/DISC1 locus for schizophrenia and bipolar affective disorder in South Indian population

Shusuke Numata

J Hum Genet 2012 57: 475-476; advance online publication, July 5, 2012; 10.1038/jhg.2012.82

Full Text

Review

Top

Deciphering transcription dysregulation in FSH muscular dystrophy

Melanie Ehrlich and Michelle Lacey

J Hum Genet 2012 57: 477-484; advance online publication, June 21, 2012; 10.1038/jhg.2012.74

Abstract | Full Text

Original Articles

Top

Hirschsprung’s disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation

Tonia C Carter, Denise M Kay, Marilyn L Browne, Aiyi Liu, Paul A Romitti, Devon Kuehn, Mary R Conley, Michele Caggana, Charlotte M Druschel, Lawrence C Brody and James L Mills

J Hum Genet 2012 57: 485-493; advance online publication, May 31, 2012; 10.1038/jhg.2012.54

Abstract | Full Text

Genetic variability of prostaglandin E2 receptor subtype EP4 gene in aspirin-intolerant chronic urticaria

Nami Shrestha Palikhe, Hye Jung Sin, Seung Hyun Kim, Hyun Jung Sin, Eui Kyung Hwang, Young Min Ye and Hae-Sim Park

J Hum Genet 2012 57: 494-499; advance online publication, June 14, 2012; 10.1038/jhg.2012.55

Abstract | Full Text

A powerful parent-of-origin effects test for qualitative traits incorporating control children in nuclear families

Ji-Yuan Zhou, Wei-Gao Mao, Dan-Ling Li, Yue-Qing Hu, Fan Xia and Wing Kam Fung

J Hum Genet 2012 57: 500-507; advance online publication, May 31, 2012; 10.1038/jhg.2012.58

Abstract | Full Text

Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits

Jeong-Heuy Park, Tetsutaro Yamaguchi, Chiaki Watanabe, Akira Kawaguchi, Kuniaki Haneji, Mayako Takeda, Yong-Il Kim, Yoko Tomoyasu, Miyuki Watanabe, Hiroki Oota, Tsunehiko Hanihara, Hajime Ishida, Koutaro Maki, Soo-Byung Park and Ryosuke Kimura

J Hum Genet 2012 57: 508-514; advance online publication, May 31, 2012; 10.1038/jhg.2012.60

Abstract | Full Text

Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes

Makiko Tsutsumi, Hiroe Kowa-Sugiyama, Hasbaira Bolor, Hiroshi Kogo, Hidehito Inagaki, Tamae Ohye, Kouji Yamada, Mariko Taniguchi-Ikeda, Tatsushi Toda and Hiroki Kurahashi

J Hum Genet 2012 57: 515-522; advance online publication, May 31, 2012; 10.1038/jhg.2012.61

Abstract | Full Text

Gender-specific association of TSNAX/DISC1 locus for schizophrenia and bipolar affective disorder in South Indian population

Anjanappa Ram Murthy, Meera Purushottam, Halagur Bhoge Gowda Kiran Kumar, Manduva ValliKiran, Nithin Krishna, Kallahalli Jayramu Sriharsha, Yemmiganur Chandrashekar Janardhan Reddy, Saurabh Ghosh and Sanjeev Jain

J Hum Genet 2012 57: 523-530; advance online publication, June 7, 2012; 10.1038/jhg.2012.62

Abstract | Full Text

Association study of genetic polymorphisms of drug transporters, SLCO1B1, SLCO1B3 and ABCC2, in African-Americans, Hispanics and Caucasians and olmesartan exposure

Seiko Endo, Aiko Fukahori, Shinya Tokuhiro, Akira Shinagawa, Joseph Walker, Kazutaka Yoshihara, Hitoshi Ishizuka, Ichiro Ieiri and Yuichi Sugiyama

J Hum Genet 2012 57: 531-544; advance online publication, June 14, 2012; 10.1038/jhg.2012.63

Abstract | Full Text

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification

Renqian Du, Chuncheng Lu, Zhengwen Jiang, Shilin Li, Ruixiao Ma, Haijia An, Miaofei Xu, Yu An, Yankai Xia, Li Jin, Xinru Wang and Feng Zhang

J Hum Genet 2012 57: 545-551; advance online publication, June 7, 2012; 10.1038/jhg.2012.66

Abstract | Full Text

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