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2014/05/26

Journal of Human Genetics - Table of Contents alert Volume 59 Issue 5

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Journal of Human Genetics

TABLE OF CONTENTS

Volume 59, Issue 5 (May 2014)

In this issue
Original Articles
Short Communications

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Original Articles

Top

Genome-wide analysis of CNV (copy number variation) and their associations with narcolepsy in a Japanese population

Maria Yamasaki, Taku Miyagawa, Hiromi Toyoda, Seik-Soon Khor, Asako Koike, Aino Nitta, Kumi Akiyama, Tsukasa Sasaki, Yutaka Honda, Makoto Honda and Katsushi Tokunaga

J Hum Genet 2014 59: 235-240; advance online publication, April 3, 2014; 10.1038/jhg.2014.13

Abstract | Full Text

Targeted next-generation sequencing and fine linkage disequilibrium mapping reveals association of PNPLA3 and PARVB with the severity of nonalcoholic fatty liver disease

Takuya Kitamoto, Aya Kitamoto, Masato Yoneda, Hideyuki Hyogo, Hidenori Ochi, Seiho Mizusawa, Takato Ueno, Kazuwa Nakao, Akihiro Sekine, Kazuaki Chayama, Atsushi Nakajima and Kikuko Hotta

J Hum Genet 2014 59: 241-246; advance online publication, March 13, 2014; 10.1038/jhg.2014.17

Abstract | Full Text

Signature of backward replication slippage at the copy number variation junction

Tamae Ohye, Hidehito Inagaki, Mamoru Ozaki, Toshiro Ikeda and Hiroki Kurahashi

J Hum Genet 2014 59: 247-250; advance online publication, March 20, 2014; 10.1038/jhg.2014.20

Abstract | Full Text

Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US

Shuhei Abe, Kiyonori Miura, Akira Kinoshita, Hiroyuki Mishima, Shoko Miura, Kentaro Yamasaki, Yuri Hasegawa, Ai Higashijima, Ozora Jo, Atsushi Yoshida, Masanori Kaneuchi, Koh-ichiro Yoshiura and Hideaki Masuzaki

J Hum Genet 2014 59: 251-255; advance online publication, February 13, 2014; 10.1038/jhg.2014.9

Abstract | Full Text

Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients

Min Zhu, Xuan Zhu, Xueliang Qi, Ding Weijiang, Yajing Yu, Hui Wan and Daojun Hong

J Hum Genet 2014 59: 256-261; advance online publication, February 13, 2014; 10.1038/jhg.2014.10

Abstract | Full Text

Mutation spectrum and genotype–phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study OPEN

Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami and The Deafness Gene Study Consortium

J Hum Genet 2014 59: 262-268; advance online publication, March 6, 2014; 10.1038/jhg.2014.12

Abstract | Full Text

Quantifying the uncertainty in heritability OPEN

Nicholas A Furlotte, David Heckerman and Christoph Lippert

J Hum Genet 2014 59: 269-275; advance online publication, March 27, 2014; 10.1038/jhg.2014.15

Abstract | Full Text

Allele frequency of a 24bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease

Kyu Ha Woo, Beom Hee Lee, Sun Hee Heo, Jae-Min Kim, Gu-Hwan Kim, Yoo-Mi Kim, Ja Hye Kim, In-Hee Choi, Song Hyun Yang and Han-Wook Yoo

J Hum Genet 2014 59: 276-279; advance online publication, March 13, 2014; 10.1038/jhg.2014.16

Abstract | Full Text

Polymorphisms in methylenetetrahydrofolate reductase gene and risk of non-Hodgkin lymphoma in a multi-ethnic population

Sujatha Suthandiram, Gin Gin Gan, Shamsul Mohd Zain, Batoul Sadat Haerian, Ping Chong Bee, Lay Hoong Lian, Kian Meng Chang, Tee Chuan Ong and Zahurin Mohamed

J Hum Genet 2014 59: 280-287; advance online publication, March 20, 2014; 10.1038/jhg.2014.19

Abstract | Full Text

Short Communications

Top

Pseudogenization of testis-specific Lfg5 predates human/Neanderthal divergence

Marco Mariotti, Temple F Smith, Peter H Sudmant and Gabriel Goldberger

J Hum Genet 2014 59: 288-291; advance online publication, March 6, 2014; 10.1038/jhg.2014.6

Abstract | Full Text

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain

Chihiro Ohba, Shin Nabatame, Yoshitaka Iijima, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Fumiaki Tanaka, Keiichi Ozono, Hirotomo Saitsu and Naomichi Matsumoto

J Hum Genet 2014 59: 292-295; advance online publication, March 13, 2014; 10.1038/jhg.2014.18

Abstract | Full Text

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