Journal of Human Genetics - Table of Contents alert Volume 61 Issue 8

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TABLE OF CONTENTS Volume 61, Issue 8 (August 2016) In this issue Obituary Review Original Articles Short Communications Corrigendum Sign up for e-alerts Recommend to your library Web feed Subscribe Obituary Top Obituary: a eulogy to the late Professor Tadashi Kajii (1929–2016) Shinya Matsuura J Hum Genet 2016 61: 677; advance online publication, June 23, 2016; 10.1038/jhg.2016.77 Full Text Review Top Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency Shinta Saito, Aya Kurosawa and Noritaka Adachi J Hum Genet 2016 61: 679-685; advance online publication, May 12, 2016; 10.1038/jhg.2016.46 Abstract | Full Text Original Articles Top Reproductive outcomes following preimplantation genetic diagnosis using fluorescence in situ hybridization for 52 translocation carrier couples with a history of recurrent pregnancy loss Keiichi Kato, Naoki Aoyama, Nami Kawasaki, Hiroko Hayashi, Tang Xiaohui, Takashi Abe and Tomoko Kuroda J Hum Genet 2016 61: 687-692; advance online publication, May 19, 2016; 10.1038/jhg.2016.39 Abstract | Full Text Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum Sébastien Moutton, Patricia Fergelot, Sophie Naudion, Marie-Pierre Cordier, Guilhem Solé, Elodie Guerineau, Christophe Hubert, Caroline Rooryck, Marie-Laure Vuillaume, Nada Houcinat, Julie Deforges, Julie Bouron, Sylvie Devès, Martine Le Merrer, Albert David, David Geneviève, Fabienne Giuliano, Hubert Journel, André Megarbane, Laurence Faivre, Nicolas Chassaing, Christine Francannet, Elisabeth Sarrazin, Eva-Lena Stattin, Jacqueline Vigneron, Danielle Leclair, Caroline Abadie, Pierre Sarda, Clarisse Baumann, Marie-Ange Delrue, Benoit Arveiler, Didier Lacombe, Cyril Goizet and Isabelle Coupry J Hum Genet 2016 61: 693-699; advance online publication, May 19, 2016; 10.1038/jhg.2016.37 Abstract | Full Text A PDE3A mutation in familial hypertension and brachydactyly syndrome Hiroko Boda, Hidetoshi Uchida, Nobue Takaiso, Yuya Ouchi, Naoko Fujita, Asami Kuno, Tadayoshi Hata, Arisa Nagatani, Yuri Funamoto, Masafumi Miyata, Tetsushi Yoshikawa, Hiroki Kurahashi and Hidehito Inagaki J Hum Genet 2016 61: 701-703; advance online publication, April 7, 2016; 10.1038/jhg.2016.32 Abstract | Full Text Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1 Mi-Ae Jang, Young-Eun Kim, Sun Kyung Kim, Myoung-Keun Lee, Jong-Won Kim and Chang-Seok Ki J Hum Genet 2016 61: 705-709; advance online publication, April 14, 2016; 10.1038/jhg.2016.33 Abstract | Full Text Claudin-7 indirectly regulates the integrin/FAK signaling pathway in human colon cancer tissue Lei Ding, Liyong Wang, Leiming Sui, Huanying Zhao, Xiaoxue Xu, Tengyan Li, Xiaonan Wang, Wenjing Li, Ping Zhou and Lu Kong J Hum Genet 2016 61: 711-720; advance online publication, April 28, 2016; 10.1038/jhg.2016.35 Abstract | Full Text Exploring the maternal history of the Tai people Yu-Chun Li, Wei Huang, Jiao-Yang Tian, Xiao-Qiong Chen and Qing-Peng Kong J Hum Genet 2016 61: 721-729; advance online publication, April 21, 2016; 10.1038/jhg.2016.36 Abstract | Full Text Molecular epidemiology, genotype–phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria Luis Aldámiz-Echevarría, Marta Llarena, María A Bueno, Jaime Dalmau, Isidro Vitoria, Ana Fernández-Marmiesse, Fernando Andrade, Javier Blasco, Carlos Alcalde, David Gil, María C García, Domingo González-Lamuño, Mónica Ruiz, María A Ruiz, Luis Peña-Quintana, David González, Felix Sánchez-Valverde, Lourdes R Desviat, Belen Pérez and María L Couce J Hum Genet 2016 61: 731-744; advance online publication, April 28, 2016; 10.1038/jhg.2016.38 Abstract | Full Text KIAA0319 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children OPEN Hua Zhao, Yun Chen, Bao-ping Zhang and Peng-xiang Zuo J Hum Genet 2016 61: 745-752; advance online publication, April 21, 2016; 10.1038/jhg.2016.40 Abstract | Full Text Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation Haipo Yang, Hiroshi Manya, Kazuhiro Kobayashi, Hui Jiao, Xiaona Fu, Jiangxi Xiao, Xiaoqing Li, Jingmin Wang, Yuwu Jiang, Tatsushi Toda, Tamao Endo, Xiru Wu and Hui Xiong J Hum Genet 2016 61: 753-759; advance online publication, May 19, 2016; 10.1038/jhg.2016.42 Abstract | Full Text Short Communications Top Novel European SLC1A4 variant: infantile spasms and population ancestry analysis Judith Conroy, Nicholas M Allen, Kathleen Gorman, Eoghan O'Halloran, Amre Shahwan, Bryan Lynch, Sally A Lynch, Sean Ennis and Mary D King J Hum Genet 2016 61: 761-764; advance online publication, May 19, 2016; 10.1038/jhg.2016.44 Abstract | Full Text Beckwith–Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? Shinichiro Sano, Keiko Matsubara, Keisuke Nagasaki, Toru Kikuchi, Kazuhiko Nakabayashi, Kenichiro Hata, Maki Fukami, Masayo Kagami and Tsutomu Ogata J Hum Genet 2016 61: 765-769; advance online publication, April 28, 2016; 10.1038/jhg.2016.45 Abstract | Full Text Corrigendum Top Corrigendum: 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: 771-772; 10.1038/jhg.2016.31 Full Text Advertisement Nature Medicine and the Volkswagen Foundation present:  GENOME EDITING FOR GENE AND CELL THERAPY, A HERRENHAUSEN SYMPOSIUM November 3-4, 2016 | Herrenhausen Palace Conference Center, Hanover, Germany REGISTER NOW! 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