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maandag 26 juni 2017

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

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Journal of Human Genetics

TABLE OF CONTENTS

Volume 62, Issue 7 (July 2017)

In this issue
Original Articles
Short Communications

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Original Articles

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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

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