Tuesday, December 20, 2016

Journal of Human Genetics - Table of Contents alert Volume 61 Issue 12

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Volume 61, Issue 12 (December 2016)

In this issue
Original Articles

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Original Articles


Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis

Letizia Straniero, Giulia Soldà, Lucy Costantino, Manuela Seia, Paola Melotti, Carla Colombo, Rosanna Asselta and Stefano Duga

J Hum Genet 2016 61: 977-984; advance online publication, August 4, 2016; 10.1038/jhg.2016.101

Abstract | Full Text

Regulation of LOXL2 and SERPINH1 by antitumor microRNA-29a in lung cancer with idiopathic pulmonary fibrosis

Kazuto Kamikawaji, Naohiko Seki, Masaki Watanabe, Hiroko Mataki, Tomohiro Kumamoto, Koichiro Takagi, Keiko Mizuno and Hiromasa Inoue

J Hum Genet 2016 61: 985-993; advance online publication, August 4, 2016; 10.1038/jhg.2016.99

Abstract | Full Text

A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan

Junko Yotsumoto, Akihiko Sekizawa, Nobuhiro Suzumori, Takahiro Yamada, Osamu Samura, Miyuki Nishiyama, Kiyonori Miura, Hideaki Sawai, Jun Murotsuki, Michihiro Kitagawa, Yoshimasa Kamei, Hideaki Masuzaki, Fumiki Hirahara, Toshiaki Endo, Akimune Fukushima, Akira Namba, Hisao Osada, Yasuyo Kasai, Atsushi Watanabe, Yukiko Katagiri, Naoki Takeshita, Masaki Ogawa, Takashi Okai, Shunichiro Izumi, Haruka Hamanoue, Mayuko Inuzuka, Kazufumi Haino, Naoki Hamajima, Haruki Nishizawa, Yoko Okamoto, Hiroaki Nakamura, Takeshi Kanegawa, Jun Yoshimatsu, Shinya Tairaku, Katsuhiko Naruse, Hisashi Masuyama, Maki Hyodo, Takashi Kaji, Kazuhisa Maeda, Keiichi Matsubara, Masanobu Ogawa, Toshiyuki Yoshizato, Takashi Ohba, Yukie Kawano, Haruhiko Sago and Japan NIPT Consortium

J Hum Genet 2016 61: 995-1001; advance online publication, September 8, 2016; 10.1038/jhg.2016.96

Abstract | Full Text

Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population

Zhihong Shi, Shuai Liu, Lei Xiang, Ying Wang, Mengyuan Liu, Shuling Liu, Tong Han, Yuying Zhou, Jinhuan Wang, Li Cai, Shuo Gao and Yong Ji

J Hum Genet 2016 61: 1003-1008; advance online publication, July 21, 2016; 10.1038/jhg.2016.92

Abstract | Full Text

Genetic-risk assessment of GWAS-derived susceptibility loci for type 2 diabetes in a 10 year follow-up of a population-based cohort study

Min Jin Go, Young Lee, Suyeon Park, Soo Heon Kwak, Bong-Jo Kim and Juyoung Lee

J Hum Genet 2016 61: 1009-1012; advance online publication, July 21, 2016; 10.1038/jhg.2016.93

Abstract | Full Text

FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies

Xiaona Fu, Haipo Yang, Cuijie Wei, Hui Jiao, Shuo Wang, Yanling Yang, Chunxi Han, Xiru Wu and Hui Xiong

J Hum Genet 2016 61: 1013-1020; advance online publication, July 21, 2016; 10.1038/jhg.2016.94

Abstract | Full Text

Mitochondrial haplogroup M9a1a1c1b is associated with hypoxic adaptation in the Tibetans

Qian Li, Keqin Lin, Hao Sun, Shuyuan Liu, Kai Huang, Xiaoqin Huang, Jiayou Chu and Zhaoqing Yang

J Hum Genet 2016 61: 1021-1026; advance online publication, July 28, 2016; 10.1038/jhg.2016.95

Abstract | Full Text

Identification of novel susceptibility markers for the risk of overall breast cancer as well as subtypes defined by hormone receptor status in the Chinese population

Zhiping Deng, Hua Yang, Qiufang Liu, Zhouquan Wang, Tian Feng, Yongri Ouyang, Tianbo Jin and Hong Ren

J Hum Genet 2016 61: 1027-1034; advance online publication, September 8, 2016; 10.1038/jhg.2016.97

Abstract | Full Text

Co-stimulatory CD28 and transcription factor NFKB1 gene variants affect idiopathic recurrent miscarriages

Maneesh Kumar Misra, Bharti Singh, Aditi Mishra and Suraksha Agrawal

J Hum Genet 2016 61: 1035-1041; advance online publication, August 4, 2016; 10.1038/jhg.2016.100

Abstract | Full Text

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