Monday, April 25, 2016

Journal of Human Genetics - Table of Contents alert Volume 61 Issue 4

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Journal of Human Genetics

TABLE OF CONTENTS

Volume 61, Issue 4 (April 2016)

In this issue
Review
Original Articles
Short Communication
Correspondence
Corrigendum

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Review

Top

Global trends on fears and concerns of genetic discrimination: a systematic literature review

Annet Wauters and Ine Van Hoyweghen

J Hum Genet 2016 61: 275-282; advance online publication, January 7, 2016; 10.1038/jhg.2015.151

Abstract | Full Text

Original Articles

Top

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability

Silvia Moncini, Paola Castronovo, Alessandra Murgia, Silvia Russo, Maria Francesca Bedeschi, Marta Lunghi, Angelo Selicorni, Maria Teresa Bonati, Paola Riva and Marco Venturin

J Hum Genet 2016 61: 283-293; advance online publication, December 10, 2015; 10.1038/jhg.2015.144

Abstract | Full Text

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family

Giulia Soldà, Sonia Caccia, Michela Robusto, Chiara Chiereghin, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga and Rosanna Asselta

J Hum Genet 2016 61: 295-300; advance online publication, December 10, 2015; 10.1038/jhg.2015.149

Abstract | Full Text

A novel polymorphism near HLA class II region is associated with spontaneous clearance of HCV and response to interferon treatment in Chinese patients

Yin Xu, Peng Huang, Ming Yue, Jing Su, Hongbo Chen, Mingzhu Chen, Jie Wang, Jun Li, Zhihang Peng, Yun Zhang and Rongbin Yu

J Hum Genet 2016 61: 301-305; advance online publication, December 3, 2015; 10.1038/jhg.2015.145

Abstract | Full Text

The African−387 C>T TGFB1 variant is functional and associates with the ophthalmoplegic complication in juvenile myasthenia gravis

Melissa Nel, Joy-Mari Buys, Robyn Rautenbach, Shaheen Mowla, Sharon Prince and Jeannine M Heckmann

J Hum Genet 2016 61: 307-316; advance online publication, December 3, 2015; 10.1038/jhg.2015.146

Abstract | Full Text

Gene–environment interactions in obesity: implication for future applications in preventive medicine

Sho Nakamura, Hiroto Narimatsu, Hidenori Sato, Ri Sho, Katsumi Otani, Ryo Kawasaki, Shigeru Karasawa, Makoto Daimon, Hidetoshi Yamashita, Isao Kubota, Yoshiyuki Ueno, Takeo Kato, Takashi Yoshioka, Akira Fukao and Takamasa Kayama

J Hum Genet 2016 61: 317-322; advance online publication, December 10, 2015; 10.1038/jhg.2015.148

Abstract | Full Text

Association of common variants in TOMM40/APOE/APOC1 region with human longevity in a Chinese population

Rong Lin, Yunxia Zhang, Dongjing Yan, Xiaoping Liao, Gu Gong, Junjie Hu, Yunxin Fu and Wangwei Cai

J Hum Genet 2016 61: 323-328; advance online publication, December 10, 2015; 10.1038/jhg.2015.150

Abstract | Full Text

Individual risk alleles of susceptibility to schizophrenia are associated with poor clinical and social outcomes

Shinji Sakamoto, Manabu Takaki, Yuko Okahisa, Yutaka Mizuki, Masatoshi Inagaki, Hiroshi Ujike, Toshiharu Mitsuhashi, Soshi Takao, Masashi Ikeda, Yosuke Uchitomi, Nakao Iwata and Norihito Yamada

J Hum Genet 2016 61: 329-334; advance online publication, December 17, 2015; 10.1038/jhg.2015.153

Abstract | Full Text

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

Daniela Tiaki Uehara, Shin Hayashi, Nobuhiko Okamoto, Seiji Mizuno, Yasutsugu Chinen, Rika Kosaki, Tomoki Kosho, Kenji Kurosawa, Hiroshi Matsumoto, Hiroshi Mitsubuchi, Hironao Numabe, Shinji Saitoh, Yoshio Makita, Akira Hata, Issei Imoto and Johji Inazawa

J Hum Genet 2016 61: 335-343; advance online publication, January 7, 2016; 10.1038/jhg.2015.154

Abstract | Full Text

Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China

Xueru Chen, Wenjuan Qiu, Jun Ye, Lianshu Han, Xuefan Gu and Huiwen Zhang

J Hum Genet 2016 61: 345-349; advance online publication, January 7, 2016; 10.1038/jhg.2015.155

Abstract | Full Text

Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother

Mariko Taniguchi-Ikeda, Yasuhiro Takeshima, Tomoko Lee, Masahiro Nishiyama, Hiroyuki Awano, Mariko Yagi, Ai Unzaki, Kandai Nozu, Hisahide Nishio, Masafumi Matsuo, Hiroki Kurahashi, Tatsushi Toda, Ichiro Morioka and Kazumoto Iijima

J Hum Genet 2016 61: 351-355; advance online publication, January 7, 2016; 10.1038/jhg.2015.157

Abstract | Full Text

Short Communication

Top

A novel de novo POGZ mutation in a patient with intellectual disability

Bo Tan, Yongyi Zou, Yue Zhang, Rui Zhang, Jianjun Ou, Yidong Shen, Jingping Zhao, Xiaomei Luo, Jing Guo, Lanlan Zeng, Yiqiao Hu, Yu Zheng, Qian Pan, Desheng Liang and Lingqian Wu

J Hum Genet 2016 61: 357-359; advance online publication, January 14, 2016; 10.1038/jhg.2015.156

Abstract | Full Text

Correspondence

Top

UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation OPEN

Carlo Rivolta, Beryl Royer-Bertrand, Donata Rimoldi, Ann Schalenbourg, Leonidas Zografos, Serge Leyvraz and Alexandre Moulin

J Hum Genet 2016 61: 361-362; advance online publication, December 10, 2015; 10.1038/jhg.2015.152

Full Text

Corrigendum

Top

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses

Hiroyuki Ishiura, Yuji Takahashi, Toshihiro Hayashi, Kayoko Saito, Hirokazu Furuya, Mitsunori Watanabe, Miho Murata, Mikiya Suzuki, Akira Sugiura, Setsu Sawai, Kazumoto Shibuya, Naohisa Ueda, Yaeko Ichikawa, Ichiro Kanazawa, Jun Goto and Shoji Tsuji

J Hum Genet 2016 61: 363-364; 10.1038/jhg.2015.159

Full Text

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