Monday, September 26, 2016

Journal of Human Genetics - Table of Contents alert Volume 61 Issue 9

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Journal of Human Genetics

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Volume 61, Issue 9 (September 2016)

In this issue
Original Articles
Short Communications

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A commentary on de novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux

Rie Takai and Tohru Ohta

J Hum Genet 2016 61: 773-774; advance online publication, July 7, 2016; 10.1038/jhg.2016.81

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Original Articles


Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis

Jiwon Seo, Minji Kim, Geu-Ru Hong, Dae-Seong Kim, Jang-Won Son, In Jeong Cho, Chi Young Shim, Hyuk-Jae Chang, Jong-Won Ha and Namsik Chung

J Hum Genet 2016 61: 775-780; advance online publication, May 26, 2016; 10.1038/jhg.2016.52

Abstract | Full Text

Androgen receptor CAG polymorphism and sporadic and early-onset prostate cancer among Mexican men

Rocío Gómez, Luisa Torres-Sánchez, Rafael Camacho-Mejorado, Ana I Burguete-García, Ruth Argelia Vázquez-Salas, Gabriela A Martínez-Nava, Carla Santana and Gino Noris

J Hum Genet 2016 61: 781-786; advance online publication, May 19, 2016; 10.1038/jhg.2016.49

Abstract | Full Text

Survey of motivation to participate in a birth cohort

Midori Yamamoto, Misuzu Fujita, Chisato Mori and Akira Hata

J Hum Genet 2016 61: 787-791; advance online publication, June 2, 2016; 10.1038/jhg.2016.60

Abstract | Full Text

A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population

Kiyonori Miura, Hiroyuki Mishima, Michio Yasunami, Masanori Kaneuchi, Michio Kitajima, Shuhei Abe, Ai Higashijima, Naoki Fuchi, Shoko Miura, Koh-Ichiro Yoshiura and Hideaki Masuzaki

J Hum Genet 2016 61: 793-796; advance online publication, May 19, 2016; 10.1038/jhg.2016.50

Abstract | Full Text

Genotyping NUDT15 can predict the dose reduction of 6-MP for children with acute lymphoblastic leukemia especially at a preschool age

Hisato Suzuki, Hiroko Fukushima, Ryoko Suzuki, Sho Hosaka, Yuni Yamaki, Chie Kobayashi, Aiko Sakai, Kazuo Imagawa, Atsushi Iwabuchi, Ai Yoshimi, Tomohei Nakao, Keisuke Kato, Masahiro Tsuchida, Nobutaka Kiyokawa, Kazutoshi Koike, Emiko Noguchi, Takashi Fukushima and Ryo Sumazaki

J Hum Genet 2016 61: 797-801; advance online publication, May 19, 2016; 10.1038/jhg.2016.55

Abstract | Full Text

Additive composite ABCG2, SLC2A9 and SLC22A12 scores of high-risk alleles with alcohol use modulate gout risk

Hung-Pin Tu, Chia-Min Chung, Albert Min-Shan Ko, Su-Shin Lee, Han-Ming Lai, Chien-Hung Lee, Chung-Ming Huang, Chiu-Shong Liu and Ying-Chin Ko

J Hum Genet 2016 61: 803-810; advance online publication, May 26, 2016; 10.1038/jhg.2016.57

Abstract | Full Text

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis

Salvatore Melchionda, Teresa Palladino, Stefano Castellana, Mario Giordano, Elisa Benetti, Patrizia De Bonis, Leopoldo Zelante and Luigi Bisceglia

J Hum Genet 2016 61: 811-821; advance online publication, May 26, 2016; 10.1038/jhg.2016.58

Abstract | Full Text

Transcript, methylation and molecular docking analyses of the effects of HDAC inhibitors, SAHA and Dacinostat, on SMN2 expression in fibroblasts of SMA patients

Jafar Mohseni, Belal O Al-Najjar, Habibah A Wahab, Z A M H Zabidi-Hussin and Teguh Haryo Sasongko

J Hum Genet 2016 61: 823-830; advance online publication, June 2, 2016; 10.1038/jhg.2016.61

Abstract | Full Text

Short Communications


EED-associated overgrowth in a second male patient

Ana SA Cohen and William T Gibson

J Hum Genet 2016 61: 831-834; advance online publication, May 19, 2016; 10.1038/jhg.2016.51

Abstract | Full Text

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux

Atsushi Fujita, Bertrand Isidor, Hugues Piloquet, Pierre Corre, Nobuhiko Okamoto, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Noriko Miyake and Naomichi Matsumoto

J Hum Genet 2016 61: 835-838; advance online publication, May 26, 2016; 10.1038/jhg.2016.54

Abstract | Full Text

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism

Daisuke Miyamichi, Miki Asahina, Junya Nakajima, Miho Sato, Katsuhiro Hosono, Takahito Nomura, Takashi Negishi, Noriko Miyake, Yoshihiro Hotta, Tsutomu Ogata and Naomichi Matsumoto

J Hum Genet 2016 61: 839-842; advance online publication, May 26, 2016; 10.1038/jhg.2016.56

Abstract | Full Text



Corrigendum: The paternal ancestry of Uttarakhand does not imitate the classical caste system of India

Neetu Negi, Rakesh Tamang, Veena Pande, Amrita Sharma, Anish Shah, Alla G Reddy, Satti Vishnupriya, Lalji Singh, Gyaneshwer Chaubey and Kumarasamy Thangaraj

J Hum Genet 2016 61: 843; 10.1038/jhg.2016.48

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