Journal of Human Genetics - Table of Contents alert Volume 59 Issue 8

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TABLE OF CONTENTS Volume 59, Issue 8 (August 2014) In this issue Commentaries Original Articles Short Communications Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Human Genome Variation is launched! Nature Publishing Group and the Japan Society of Human Genetics are delighted to announce that Human Genome Variation has published its first articles and has been fully launched on nature.com. PUBLISH, SHARE, UTILIZE human genome data with Human Genome Variation. Learn more and register for e-alerts at http://www.nature.com/hgv   Commentaries Top A commentary on a novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy Yukitoshi Ishikawa J Hum Genet 2014 59: 419-420; advance online publication, July 3, 2014; 10.1038/jhg.2014.49 Full Text A commentary on comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection Osamu Samura J Hum Genet 2014 59: 421-422; advance online publication, July 3, 2014; 10.1038/jhg.2014.56 Full Text Original Articles Top A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy Ery Kus Dwianingsih, Rusdy Ghazali Malueka, Atsushi Nishida, Kyoko Itoh, Tomoko Lee, Mariko Yagi, Kazumoto Iijima, Yasuhiro Takeshima and Masafumi Matsuo J Hum Genet 2014 59: 423-429; advance online publication, May 29, 2014; 10.1038/jhg.2014.36 Abstract | Full Text Genetic variations in RORα are associated with chronic obstructive pulmonary disease Yiming Yuan, Xiaoming Hou, Jinlong Zhang, Yulong Chen, Yulin Feng and Zhiguang Su J Hum Genet 2014 59: 430-436; advance online publication, June 19, 2014; 10.1038/jhg.2014.48 Abstract | Full Text Genetic variation of TBX21 gene increases risk of asthma and its severity in Indian children Neeraj Sharma, Indu Jaiswal, Raju K Mandal, Shubha R Phadke and Shally Awasthi J Hum Genet 2014 59: 437-443; advance online publication, July 24, 2014; 10.1038/jhg.2014.52 Abstract | Full Text Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy Nagasamy Soumittra, Sampath K Loganathan, Dharanija Madhavan, Vedam L Ramprasad, Tharigopala Arokiasamy, Sundaram Sumathi, Thirumalai Karthiyayini, Sudhir R Rachapalli, Govindasamy Kumaramanickavel, Joseph R Casey and Rama Rajagopal J Hum Genet 2014 59: 444-453; advance online publication, July 10, 2014; 10.1038/jhg.2014.55 Abstract | Full Text New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy Rosário Santos, Ana Gonçalves, Jorge Oliveira, Emília Vieira, José Pedro Vieira, Teresinha Evangelista, Teresa Moreno, Manuela Santos, Isabel Fineza and Elsa Bronze-da-Rocha J Hum Genet 2014 59: 454-464; advance online publication, July 10, 2014; 10.1038/jhg.2014.54 Abstract | Full Text Short Communications Top Severe exacerbation of Andersen–Tawil syndrome secondary to thyrotoxicosis Jordi Díaz-Manera, Luis Querol, Aída Alejaldre, Ricard Rojas-García, Alba Ramos-Fransi, Eduard Gallardo and Isabel Illa J Hum Genet 2014 59: 465-466; advance online publication, May 22, 2014; 10.1038/jhg.2014.43 Abstract | Full Text ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers Phatchara Norbnop, Chalurmpon Srichomthong, Kanya Suphapeetiporn and Vorasuk Shotelersuk J Hum Genet 2014 59: 467-470; advance online publication, June 26, 2014; 10.1038/jhg.2014.50 Abstract | Full Text Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss Mitsuko Nakashima, Kyoko Takano, Hitoshi Osaka, Noriko Aida, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu and Naomichi Matsumoto J Hum Genet 2014 59: 471-474; advance online publication, June 26, 2014; 10.1038/jhg.2014.51 Abstract | Full Text No association between Y chromosomal haplogroups and severe acne in the Han Chinese population Mei-Hua Guo, Wen-Juan Wu, Long Fan, Min-Sheng Peng, Jian-Kang Yang, Wen Zhang, Fei Hao, Hong-Fu Xie, Lei-Hong Xiang, Min Zheng, Yan-Ni Guo, Qing-Hua Song, Cai-Xia Tu, Hua Zhong, Wen-Ge Fan, Yue-Jun Shi, Ping Cao, Lian-Yuan Feng, Meng Na, Qin Pang, Xiao-Yan Yang, Cheng Yang, Xi Zou, Li He and Ya-Ping Zhang J Hum Genet 2014 59: 475-476; advance online publication, July 10, 2014; 10.1038/jhg.2014.53 Abstract | Full Text Corrigendum Top Severe exacerbation of Andersen–Tawil syndrome secondary to thyrotoxicosis Jordi Díaz-Manera, Luis Querol, Aída Alejaldre, Ricard Rojas-García, Alba Ramos-Fransi, Eduard Gallardo and Isabel Illa J Hum Genet 2014 59: 477; 10.1038/jhg.2014.59 Full Text Advertisement EXCLUSIVE DEALS: Lab equipment and services Learn more and save on the latest lab equipment you need! 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