Monday, March 27, 2017

Journal of Human Genetics - Table of Contents alert Volume 62 Issue 4

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Journal of Human Genetics


Volume 62, Issue 4 (April 2017)

In this issue
Original Articles
Short Communications

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Comprehensive genotyping in dyslipidemia: mendelian dyslipidemias caused by rare variants and Mendelian randomization studies using common variants

Hayato Tada, Masa-aki Kawashiri and Masakazu Yamagishi

J Hum Genet 2017 62: 453-458; advance online publication, January 5, 2017; 10.1038/jhg.2016.159

Abstract | Full Text

Original Articles


Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy

Akinori Nakamura, Naoko Shiba, Daigo Miyazaki, Hitomi Nishizawa, Yuji Inaba, Noboru Fueki, Rika Maruyama, Yusuke Echigoya and Toshifumi Yokota

J Hum Genet 2017 62: 459-463; advance online publication, December 15, 2016; 10.1038/jhg.2016.152

Abstract | Full Text

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam and Philippe M Campeau

J Hum Genet 2017 62: 465-471; advance online publication, December 22, 2016; 10.1038/jhg.2016.151

Abstract | Full Text

TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy

Toshio Ikeda, Akihiko Nakahara, Rie Nagano, Maiko Utoyama, Megumi Obara, Hiroshi Moritake, Tamayo Uechi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Naoya Kenmochi, Shinichi Morishita, Ichizo Nishino, Shoji Tsuji and Hiroyuki Nunoi

J Hum Genet 2017 62: 473-480; advance online publication, December 8, 2016; 10.1038/jhg.2016.149

Abstract | Full Text

Association of a single nucleotide polymorphism upstream of ICOS with Japanese autoimmune hepatitis type 1

Takashi Higuchi, Shomi Oka, Hiroshi Furukawa, Minoru Nakamura, Atsumasa Komori, Seigo Abiru, Shinya Nagaoka, Satoru Hashimoto, Atsushi Naganuma, Noriaki Naeshiro, Kaname Yoshizawa, Masaaki Shimada, Hideo Nishimura, Minoru Tomizawa, Masahiro Kikuchi, Fujio Makita, Haruhiro Yamashita, Keisuke Ario, Hiroshi Yatsuhashi, Shigeto Tohma, Aya Kawasaki, Hiromasa Ohira, Naoyuki Tsuchiya and Kiyoshi Migita

J Hum Genet 2017 62: 481-484; advance online publication, December 15, 2016; 10.1038/jhg.2016.155

Abstract | Full Text

Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens–Johnson syndrome with severe ocular complications OPEN

Mayumi Ueta, Hiromi Sawai, Ryosei Shingaki, Yusuke Kawai, Chie Sotozono, Kaname Kojima, Kyung-Chul Yoon, Mee Kum Kim, Kyoung Yul Seo, Choun-Ki Joo, Masao Nagasaki, Shigeru Kinoshita and Katsushi Tokunaga

J Hum Genet 2017 62: 485-489; advance online publication, January 19, 2017; 10.1038/jhg.2016.160

Abstract | Full Text

Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental caries

Scott Eckert, Eleanor Feingold, Margaret Cooper, Michael M Vanyukov, Brion S Maher, Rebecca L Slayton, Marcia C Willing, Steven E Reis, Daniel W McNeil, Richard J Crout, Robert J Weyant, Steven M Levy, Alexandre R Vieira, Mary L Marazita and John R Shaffer

J Hum Genet 2017 62: 491-496; advance online publication, January 19, 2017; 10.1038/jhg.2016.161

Abstract | Full Text

Short Communications


Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

Goknur Haliloglu, Kerstin Becker, Cagri Temucin, Beril Talim, Nalan Küçükşahin, Matthias Pergande, Susanne Motameny, Peter Nürnberg, Ustun Aydingoz, Haluk Topaloglu and Sebahattin Cirak

J Hum Genet 2017 62: 497-501; advance online publication, December 15, 2016; 10.1038/jhg.2016.153

Abstract | Full Text

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Zheng Wang, Eva Horemuzova, Aritoshi Iida, Long Guo, Ying Liu, Naomichi Matsumoto, Gen Nishimura, Ann Nordgren, Noriko Miyake, Emma Tham, Giedre Grigelioniene and Shiro Ikegawa

J Hum Genet 2017 62: 503-506; advance online publication, January 26, 2017; 10.1038/jhg.2016.157

Abstract | Full Text

Norrbottnian clinical variant of Gaucher disease in Southern Italy

Simona Sestito, Mirella Filocamo, Ferdinando Ceravolo, Francesca Falvo, Michele Grisolia, Maria Teresa Moricca, Renato Cantaffa, Serena Grossi, Pietro Strisciuglio and Daniela Concolino

J Hum Genet 2017 62: 507-511; advance online publication, December 22, 2016; 10.1038/jhg.2016.158

Abstract | Full Text

Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases

Xiaomei Luo, Yongyi Zou, Bo Tan, Yue Zhang, Jing Guo, Lanlan Zeng, Rui Zhang, Hu Tan, Xianda Wei, Yiqiao Hu, Yu Zheng, Desheng Liang and Lingqian Wu

J Hum Genet 2017 62: 513-516; advance online publication, January 12, 2017; 10.1038/jhg.2016.164

Abstract | Full Text

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