Journal of Human Genetics - Table of Contents alert Volume 62 Issue 7

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TABLE OF CONTENTS Volume 62, Issue 7 (July 2017) In this issue Original Articles Short Communications Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Original Articles Top Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients Kiyoshiro Nagamatsu, Yoshiki Sekijima, Katsuya Nakamura, Kimitoshi Nakamura, Kiyoko Hattori, Masao Ota, Yusaku Shimizu, Fumio Endo and Shu-ichi Ikeda J Hum Genet 2017 62: 665-670; advance online publication, March 9, 2017; 10.1038/jhg.2017.31 Abstract | Full Text The microRNA expression signature of small cell lung cancer: tumor suppressors of miR-27a-5p and miR-34b-3p and their targeted oncogenes Keiko Mizuno, Hiroko Mataki, Takayuki Arai, Atsushi Okato, Kazuto Kamikawaji, Tomohiro Kumamoto, Tsubasa Hiraki, Kazuhito Hatanaka, Hiromasa Inoue and Naohiko Seki J Hum Genet 2017 62: 671-678; advance online publication, March 9, 2017; 10.1038/jhg.2017.27 Abstract | Full Text Periodontal disease and FAM20A mutations Piranit Nik Kantaputra, Chotika Bongkochwilawan, Mark Lubinsky, Supansa Pata, Massupa Kaewgahya, Huei Jinn Tong, James R Ketudat Cairns, Yeliz Guven and Nipon Chaisrisookumporn J Hum Genet 2017 62: 679-686; advance online publication, March 16, 2017; 10.1038/jhg.2017.26 Abstract | Full Text Components of the folate metabolic pathway and ADHD core traits: an exploration in eastern Indian probands Tanusree Saha, Mahasweta Chatterjee, Swagata Sinha, Usha Rajamma and Kanchan Mukhopadhyay J Hum Genet 2017 62: 687-695; advance online publication, March 2, 2017; 10.1038/jhg.2017.23 Abstract | Full Text Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families Chong Wang, Xiang-Ping Yao, Hai-Ting Chen, Jing-Hui Lai, Xin-Xin Guo, Hui-Zhen Su, En-Lin Dong, Qi-Jie Zhang, Ning Wang and Wan-Jin Chen J Hum Genet 2017 62: 697-701; advance online publication, March 16, 2017; 10.1038/jhg.2017.25 Abstract | Full Text Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2 OPEN Jie Sun, Ziqi Hao, Hunjin Luo, Chufeng He, Lingyun Mei, Yalan Liu, Xueping Wang, Zhijie Niu, Hongsheng Chen, Jia-Da Li and Yong Feng J Hum Genet 2017 62: 703-709; advance online publication, March 30, 2017; 10.1038/jhg.2017.30 Abstract | Full Text Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event Maggie Brett, George Korovesis, Angeline H M Lai, Eileen C P Lim and Ene-Choo Tan J Hum Genet 2017 62: 711-715; advance online publication, March 23, 2017; 10.1038/jhg.2017.32 Abstract | Full Text Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation Sumito Dateki, Akiko Nakatomi, Satoshi Watanabe, Hitomi Shimizu, Yukiko Inoue, Hideo Baba, Koh-ichiro Yoshiura and Hiroyuki Moriuchi J Hum Genet 2017 62: 717-721; advance online publication, March 23, 2017; 10.1038/jhg.2017.33 Abstract | Full Text Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome Anju Shukla, Malavika Hebbar, Anshika Srivastava, Rajagopal Kadavigere, Priyanka Upadhyai, Anil Kanthi, Oliver Brandau, Stephanie Bielas and Katta M Girisha J Hum Genet 2017 62: 723-727; advance online publication, March 30, 2017; 10.1038/jhg.2017.35 Abstract | Full Text Short Communications Top UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia Pauline Gaignard, Didier Eyer, Elise Lebigot, Christophe Oliveira, Patrice Therond, Audrey Boutron and Abdelhamid Slama J Hum Genet 2017 62: 729-731; advance online publication, March 9, 2017; 10.1038/jhg.2017.22 Abstract | Full Text Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis Kandai Nozu, Shogo Minamikawa, Shiro Yamada, Masafumi Oka, Motoko Yanagita, Naoya Morisada, Shuichiro Fujinaga, China Nagano, Yoshimitsu Gotoh, Eihiko Takahashi, Takahiro Morishita, Tomohiko Yamamura, Takeshi Ninchoji, Hiroshi Kaito, Ichiro Morioka, Koichi Nakanishi, Igor Vorechovsky and Kazumoto Iijima J Hum Genet 2017 62: 733-735; advance online publication, March 9, 2017; 10.1038/jhg.2017.28 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to Journal of Human Genetics. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For print subscription enquiries, please contact our subscription department. 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