Journal of Human Genetics - Table of Contents alert Volume 58 Issue 8

TABLE OF CONTENTS Volume 58, Issue 8 (August 2013) In this issue Original Articles Short Communication Correspondence Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Special section on epigenomics The special section on epigenomics in the July 2013 issue of Journal of Human Genetics features review and original articles by top-level epigenetic researchers, and covers various topics of epigenetic research, both basic and clinical.  Take advantage of FREE access to select articles today! Original Articles Top WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims Laura Kytövuori, Allan Seppänen, Mika H Martikainen, Jukka S Moilanen, Seija Kamppari, Terttu Särkioja, Anne M Remes, Pirkko Räsänen, Tapani Rönnemaa and Kari Majamaa J Hum Genet 2013 58: 495-500; advance online publication, April 18, 2013; 10.1038/jhg.2013.29 Abstract | Full Text Serbian high-risk families: extensive results on BRCA mutation spectra and frequency Jelena Dobričić, Ana Krivokuća, Ksenija Brotto, Emina Mališić, Siniša Radulović and Mirjana Branković-Magić J Hum Genet 2013 58: 501-507; advance online publication, May 2, 2013; 10.1038/jhg.2013.30 Abstract | Full Text Epithelial–mesenchymal transition-related microRNA-200s regulate molecular targets and pathways in renal cell carcinoma Hirofumi Yoshino, Hideki Enokida, Toshihiko Itesako, Shuichi Tatarano, Takashi Kinoshita, Miki Fuse, Satoko Kojima, Masayuki Nakagawa and Naohiko Seki J Hum Genet 2013 58: 508-516; advance online publication, May 2, 2013; 10.1038/jhg.2013.31 Abstract | Full Text A nonsynonymous variant of IL1A is associated with endometriosis in Japanese population Yuki Hata, Hirofumi Nakaoka, Kosuke Yoshihara, Sosuke Adachi, Kazufumi Haino, Masayuki Yamaguchi, Nobumichi Nishikawa, Katsunori Kashima, Tetsuro Yahata, Atsushi Tajima, Atsushi Watanabe, Shigeo Akira, Kazuyoshi Hosomichi, Ituro Inoue and Kenichi Tanaka J Hum Genet 2013 58: 517-520; advance online publication, May 2, 2013; 10.1038/jhg.2013.32 Abstract | Full Text Identification of KCNN2 as a susceptibility locus for coronary artery aneurysms in Kawasaki disease using genome-wide association analysis Jae-Jung Kim, Young-Mi Park, Dankyu Yoon, Kyung-Yil Lee, Min Seob Song, Hyoung Doo Lee, Kwi-Joo Kim, In-Sook Park, Hyo-Kyoung Nam, Sin Weon Yun, Myung Ki Han, Young Mi Hong, Gi Young Jang, Jong-Keuk Lee and Korean Kawasaki Disease Genetics Consortium J Hum Genet 2013 58: 521-525; advance online publication, May 16, 2013; 10.1038/jhg.2013.43 Abstract | Full Text The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine Elham Jaberi, Fereshteh Chitsazian, Gholam Ali Shahidi, Mohammad Rohani, Farzad Sina, Iman Safari, Maryam Malakouti Nejad, Masoud Houshmand, Brandy Klotzle and Elahe Elahi J Hum Genet 2013 58: 526-530; advance online publication, June 13, 2013; 10.1038/jhg.2013.45 Abstract | Full Text Analysis of genetic variants of dyslexia candidate genes KIAA0319 and DCDC2 in Indian population Shyamala K Venkatesh, Anand Siddaiah, Prakash Padakannaya and Nallur B Ramachandra J Hum Genet 2013 58: 531-538; advance online publication, May 16, 2013; 10.1038/jhg.2013.46 Abstract | Full Text Family-based genome-wide copy number scan identifies five new genes of dyslexia involved in dendritic spinal plasticity Avinash M Veerappa, Marita Saldanha, Prakash Padakannaya and Nallur B Ramachandra J Hum Genet 2013 58: 539-547; advance online publication, May 16, 2013; 10.1038/jhg.2013.47 Abstract | Full Text Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study Takahito Inoue, Kiyoko Hattori, Kenji Ihara, Atsushi Ishii, Kimitoshi Nakamura and Shinichi Hirose J Hum Genet 2013 58: 548-552; advance online publication, May 16, 2013; 10.1038/jhg.2013.48 Abstract | Full Text Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions Carolyn M Yrigollen, Guadalupe Mendoza-Morales, Randi Hagerman and Flora Tassone J Hum Genet 2013 58: 553-559; advance online publication, June 6, 2013; 10.1038/jhg.2013.50 Abstract | Full Text Short Communication Top Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan Keiko Tanaka, Yoshiki Sekijima, Kunihiro Yoshida, Mariko Tamai, Tomoki Kosho, Akihiro Sakurai, Keiko Wakui, Shu-ichi Ikeda and Yoshimitsu Fukushima J Hum Genet 2013 58: 560-563; advance online publication, May 2, 2013; 10.1038/jhg.2013.34 Abstract | Full Text Correspondence Top Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy Tohru Matsuura, Tatsuaki Kurosaki, Yoshio Omote, Narihiro Minami, Yukiko K Hayashi, Ichizo Nishino and Koji Abe J Hum Genet 2013 58: 564-565; advance online publication, May 16, 2013; 10.1038/jhg.2013.33 Full Text Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene Rita M Cabral, Mazen Kurban, Lisa Rothman, Muhammad Wajid, Yutaka Shimomura, Lynn Petukhova and Angela M Christiano J Hum Genet 2013 58: 566-567; advance online publication, May 23, 2013; 10.1038/jhg.2013.44 Full Text Further evidence of an association between a genetic variant in BMP7 and treatment response to SSRIs in major depressive disorder Kosei Esaki, Kenji Kondo, Masakazu Hatano, Takeo Saito, Taro Kishi, Wakako Umene-Nakano, Reiji Yoshimura, Jun Nakamura, Norio Ozaki, Masashi Ikeda and Nakao Iwata J Hum Genet 2013 58: 568-569; advance online publication, May 23, 2013; 10.1038/jhg.2013.52 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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