Journal of Human Genetics - Table of Contents alert Volume 57 Issue 7

TABLE OF CONTENTS Volume 57, Issue 7 (July 2012) In this issue Commentaries Review Original Articles Correspondence 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 Keynote Speakers: Francis Collins (National Institutes of Health, USA), Thomas Hudson (Ontario Institute for Cancer Research, Canada), Neil Risch (University of California, San Francisco, USA), Sarah Tishkoff (University of Pennsylvania School of Medicine, USA) Register today!   Commentaries Top An abundance of population-specific monomorphic SNPs may or may not be meaningful: a commentary on differences in allele frequencies of familial hypercholesterolemia SNPs in the Malaysian population Wanna Thongnoppakhun, Anunchai Assawamakin and Sissades Tongsima J Hum Genet 2012 57: 403-404; advance online publication, May 31, 2012; 10.1038/jhg.2012.52 Full Text A Commentary on Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias Maki Fukami J Hum Genet 2012 57: 405-406; advance online publication, June 14, 2012; 10.1038/jhg.2012.76 Full Text Review Top Danon disease: focusing on heart Zhongwei Cheng and Quan Fang J Hum Genet 2012 57: 407-410; advance online publication, June 14, 2012; 10.1038/jhg.2012.72 Abstract | Full Text Original Articles Top Comprehensive evaluation of imputation performance in African Americans Pritam Chanda, Naoya Yuhki, Man Li, Joel S Bader, Alex Hartz, Eric Boerwinkle, WH Linda Kao and Dan E Arking J Hum Genet 2012 57: 411-421; advance online publication, May 31, 2012; 10.1038/jhg.2012.43 Abstract | Full Text Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome Maiko Suzuki, Hiromi Hatsuse, Kazuaki Nagao, Yoshinaga Takayama, Kohzoh Kameyama, Yuji Kabasawa, Ken Omura, Masayuki Yoshida, Katsunori Fujii and Toshiyuki Miyashita J Hum Genet 2012 57: 422-426; advance online publication, May 10, 2012; 10.1038/jhg.2012.45 Abstract | Full Text Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis Miyuki Nakakuki, Kotoyo Fujiki, Akiko Yamamoto, Shigeru BH Ko, Lanjuan Yi, Mariko Ishiguro, Makoto Yamaguchi, Shiho Kondo, Shinsuke Maruyama, Kosuke Yanagimoto, Satoru Naruse and Hiroshi Ishiguro J Hum Genet 2012 57: 427-433; advance online publication, May 10, 2012; 10.1038/jhg.2012.46 Abstract | Full Text Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias Xian-Yang Qin, Yoshiyuki Kojima, Kentaro Mizuno, Katsuhiko Ueoka, Francesco Massart, Claudio Spinelli, Hiroko Zaha, Masahiro Okura, Jun Yoshinaga, Junzo Yonemoto, Kenjiro Kohri, Yutaro Hayashi, Tsutomu Ogata and Hideko Sone J Hum Genet 2012 57: 434-441; advance online publication, May 31, 2012; 10.1038/jhg.2012.48 Abstract | Full Text High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency Alzbeta Vondrackova, Katerina Vesela, Hana Hansikova, Dagmar Zajicova Docekalova, Eva Rozsypalova, Jiri Zeman and Marketa Tesarova J Hum Genet 2012 57: 442-448; advance online publication, May 17, 2012; 10.1038/jhg.2012.49 Abstract | Full Text Haplotype analysis of ESR2 in Japanese patients with spermatogenic failure Tsutomu Ogata, Maki Fukami, Rie Yoshida, Eiko Nagata, Yasuko Fujisawa, Atsumi Yoshida and Yasunori Yoshimura J Hum Genet 2012 57: 449-452; advance online publication, May 24, 2012; 10.1038/jhg.2012.53 Abstract | Full Text Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets Signe S Beck-Nielsen, Kim Brixen, Jeppe Gram and Klaus Brusgaard J Hum Genet 2012 57: 453-458; advance online publication, June 14, 2012; 10.1038/jhg.2012.56 Abstract | Full Text Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene Dineke Westra, Katherine A Vernon, Elena B Volokhina, Matthew C Pickering, Nicole C A J van de Kar and Lambert P van den Heuvel J Hum Genet 2012 57: 459-464; advance online publication, May 24, 2012; 10.1038/jhg.2012.57 Abstract | Full Text Correspondence Top A cautionary note on the reporting of genetic association study results M Tevfik Dorak and William J Amadio J Hum Genet 2012 57: 465-466; advance online publication, May 17, 2012; 10.1038/jhg.2012.47 Full Text ‘Early Neolithic’ graves of the Carpathian Basin are in fact 6000 years younger—Appeal for real interdisciplinarity between archaeology and ancient DNA research Eszter Bánffy, Guido Brandt and Kurt W Alt J Hum Genet 2012 57: 467-469; advance online publication, June 7, 2012; 10.1038/jhg.2012.36 Full Text Response to Data on Hungarian Early Neolithic graves by Bánffy et al Tamas Zeke and Zsuzsanna Guba J Hum Genet 2012 57: 470-471; advance online publication, June 7, 2012; 10.1038/jhg.2012.64 Full Text Advertisement HudsonAlpha - Natureconference on Immunogenomics October 1-2, 2012 The Jackson Center, Huntsville, AL, USA The conference will bring together four areas to shape this emerging field: scientists in genomics and genetics, immunology, bioinformatics and methodology, and clinical research. 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