Journal of Human Genetics - Table of Contents alert Volume 61 Issue 2

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TABLE OF CONTENTS Volume 61, Issue 2 (February 2016) In this issue Review Original Articles Short Communications Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Review Top Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region OPEN Tsutomu Ogata and Masayo Kagami J Hum Genet 2016 61: 87-94; advance online publication, September 17, 2015; 10.1038/jhg.2015.113 Abstract | Full Text Original Articles Top MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability Laura Bianciardi, Marco Fichera, Pinella Failla, Chiara Di Marco, Detelina Grozeva, Maria Antonietta Mencarelli, Ottavia Spiga, Francesca Mari, Ilaria Meloni, Lucy Raymond, Alessandra Renieri, Corrado Romano and Francesca Ariani J Hum Genet 2016 61: 95-101; advance online publication, October 22, 2015; 10.1038/jhg.2015.118 Abstract | Full Text Ancient mitochondrial genome reveals trace of prehistoric migration in the east Pamir by pastoralists Chao Ning, Shizhu Gao, Boping Deng, Hongxiang Zheng, Dong Wei, Haoze Lv, Hongjie Li, Li Song, Yong Wu, Hui Zhou and Yinqiu Cui J Hum Genet 2016 61: 103-108; advance online publication, October 29, 2015; 10.1038/jhg.2015.128 Abstract | Full Text Tumor-suppressive microRNAs (miR-26a/b, miR-29a/b/c and miR-218) concertedly suppressed metastasis-promoting LOXL2 in head and neck squamous cell carcinoma Ichiro Fukumoto, Naoko Kikkawa, Ryosuke Matsushita, Mayuko Kato, Akira Kurozumi, Rika Nishikawa, Yusuke Goto, Keiichi Koshizuka, Toyoyuki Hanazawa, Hideki Enokida, Masayuki Nakagawa, Yoshitaka Okamoto and Naohiko Seki J Hum Genet 2016 61: 109-118; advance online publication, October 22, 2015; 10.1038/jhg.2015.120 Abstract | Full Text Comparison of genetic variation in drug ADME-related genes in Thais with Caucasian, African and Asian HapMap populations Jiraphun Jittikoon, Surakameth Mahasirimongkol, Angkana Charoenyingwattana, Usa Chaikledkaew, Pramote Tragulpiankit, Supachoke Mangmool, Wimala Inunchot, Chayapol Somboonyosdes, Nuanjun Wichukchinda, Pathom Sawanpanyalert, Yijing He, Howard L McLeod and Wasun Chantratita J Hum Genet 2016 61: 119-127; advance online publication, October 1, 2015; 10.1038/jhg.2015.115 Abstract | Full Text Genetic variations in vitamin D receptor were associated with the outcomes of hepatitis C virus infection among Chinese population Meng-ping Wu, Jin-wei Zhang, Peng Huang, Ya-ping Han, Yun Zhang, Zhi-hang Peng, Jie Wang, Ping Zhu, Jing Su, Rong-bin Yu, Jun Li and Ming Yue J Hum Genet 2016 61: 129-135; advance online publication, October 8, 2015; 10.1038/jhg.2015.117 Abstract | Full Text Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis Daisuke Ogino, Taeko Hashimoto, Motoshi Hattori, Noriko Sugawara, Yuko Akioka, Gen Tamiya, Satoshi Makino, Kentaro Toyota, Tetsuo Mitsui and Kiyoshi Hayasaka J Hum Genet 2016 61: 137-141; advance online publication, October 15, 2015; 10.1038/jhg.2015.122 Abstract | Full Text Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease Younhee Ko, CheolHo Lee, Myeong Hee Moon, Geu-Ru Hong, Chong-Kun Cheon and Jin-Sung Lee J Hum Genet 2016 61: 143-149; advance online publication, October 22, 2015; 10.1038/jhg.2015.123 Abstract | Full Text Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal Carla Pinto, Manuela Pinheiro, Ana Peixoto, Catarina Santos, Isabel Veiga, Patrícia Rocha, Pedro Pinto, Paula Lopes, Manuela Baptista, Rui Henrique and Manuel R Teixeira J Hum Genet 2016 61: 151-156; advance online publication, October 8, 2015; 10.1038/jhg.2015.124 Abstract | Full Text Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease Akiko Yoshida, Hiroko Morisaki, Mai Nakaji, Masataka Kitano, Ki-sung Kim, Koichi Sagawa, Shiro Ishikawa, Ichiro Satokata, Yoshihide Mitani, Hitoshi Kato, Kenji Hamaoka, Shigeyuki Echigo, Isao Shiraishi and Takayuki Morisaki J Hum Genet 2016 61: 157-162; advance online publication, October 22, 2015; 10.1038/jhg.2015.126 Abstract | Full Text Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease Parag M Tamhankar, Mehul Mistri, Pratima Kondurkar, Daksha Sanghavi and Jayesh Sheth J Hum Genet 2016 61: 163-166; advance online publication, November 19, 2015; 10.1038/jhg.2015.130 Abstract | Full Text Short Communications Top 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: 167-172; advance online publication, October 29, 2015; 10.1038/jhg.2015.121 Abstract | Full Text Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern Zöe Powis, Kelly D Farwell, Christina L Alamillo and Sha Tang J Hum Genet 2016 61: 173-175; advance online publication, October 22, 2015; 10.1038/jhg.2015.125 Abstract | Full Text A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract Mahdiyeh Behnam, Eri Imagawa, Ahmad Reza Salehi Chaleshtori, Firooze Ronasian, Mansoor Salehi, Noriko Miyake and Naomichi Matsumoto J Hum Genet 2016 61: 177-179; advance online publication, October 22, 2015; 10.1038/jhg.2015.127 Abstract | Full Text Advertisement The Geoffrey Beene Cancer Research Center at Memorial Sloan Kettering Cancer Center, Nature, Nature Cell Biology and Nature Reviews Cancer present: CANCER AS AN EVOLVING AND SYSTEMIC DISEASE March 12-15, 2016 | New York, NY, USA REGISTER NOW! 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