Journal of Human Genetics - Table of Contents alert Volume 60 Issue 5

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TABLE OF CONTENTS Volume 60, Issue 5 (May 2015) In this issue Original Articles Short Communications Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Nature Genetics in association with the Wellcome Trust present: The Genomics of Common Diseases 2015 September 2-5, 2015 | Cambridge, UK Register now! Original Articles Top Detection of APC mosaicism by next-generation sequencing in an FAP patient Kiyoshi Yamaguchi, Mitsuhiro Komura, Rui Yamaguchi, Seiya Imoto, Eigo Shimizu, Shinichi Kasuya, Tetsuo Shibuya, Seira Hatakeyama, Norihiko Takahashi, Tsuneo Ikenoue, Keisuke Hata, Giichiro Tsurita, Masaru Shinozaki, Yutaka Suzuki, Sumio Sugano, Satoru Miyano and Yoichi Furukawa J Hum Genet 2015 60: 227-231; advance online publication, February 26, 2015; 10.1038/jhg.2015.14 Abstract | Full Text A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing Yuji Kubo, Hisahide Nishio and Kayoko Saito J Hum Genet 2015 60: 233-239; advance online publication, February 26, 2015; 10.1038/jhg.2015.16 Abstract | Full Text Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants Linnea M Baudhuin, Katrina E Kotzer and Susan A Lagerstedt J Hum Genet 2015 60: 241-252; advance online publication, February 5, 2015; 10.1038/jhg.2015.10 Abstract | Full Text Incidence and clinical importance of BCR-ABL1 mutations in Iranian patients with chronic myeloid leukemia on imatinib Golale Rostami, Mohammad Hamid, Majid Yaran, Mohsen Khani and Morteza Karimipoor J Hum Genet 2015 60: 253-258; advance online publication, March 5, 2015; 10.1038/jhg.2015.11 Abstract | Full Text Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS Katsuyoshi Horibata, Sayaka Kono, Chie Ishigami, Xue Zhang, Madoka Aizawa, Yuko Kako, Takuma Ishii, Rika Kosaki, Masafumi Saijo and Kiyoji Tanaka J Hum Genet 2015 60: 259-265; advance online publication, February 26, 2015; 10.1038/jhg.2015.18 Abstract | Full Text Short Communications Top WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period Mylène Valduga, Christophe Philippe, Laetitia Lambert, Pascale Bach-Segura, Emmanuelle Schmitt, Jean Pierre Masutti, Bénédicte François, Patrick Pinaud, Mireille Vibert and Philippe Jonveaux J Hum Genet 2015 60: 267-271; advance online publication, February 26, 2015; 10.1038/jhg.2015.17 Abstract | Full Text The donor ABCB1 (MDR-1) C3435T polymorphism is a determinant of the graft glomerular filtration rate among tacrolimus treated kidney transplanted patients Beatriz Tavira, Juan Gómez, Carmen Díaz-Corte, Diego Coronel, Carlos Lopez-Larrea, Beatriz Suarez and Eliecer Coto J Hum Genet 2015 60: 273-276; advance online publication, February 12, 2015; 10.1038/jhg.2015.12 Abstract | Full Text A case of autism spectrum disorder arising from a de novo missense mutation in POGZ Ryoko Fukai, Yoko Hiraki, Hiroko Yofune, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Fumiaki Tanaka, Noriko Miyake and Naomichi Matsumoto J Hum Genet 2015 60: 277-279; advance online publication, February 19, 2015; 10.1038/jhg.2015.13 Abstract | Full Text Systematic review and meta-analysis of Japanese familial Alzheimer’s disease and FTDP-17 OPEN Kensaku Kasuga, Masataka Kikuchi, Takayoshi Tokutake, Akihiro Nakaya, Toshiyuki Tezuka, Tamao Tsukie, Norikazu Hara, Akinori Miyashita, Ryozo Kuwano and Takeshi Ikeuchi J Hum Genet 2015 60: 281-283; advance online publication, February 19, 2015; 10.1038/jhg.2015.15 Abstract | Full Text Corrigendum Top Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease Chitra Ankleshwaria, Mehul Mistri, Ashish Bavdekar, Mamta Muranjan, Usha Dave, Parag Tamhankar, Varun Khanna, Eresha Jasinge, Sheela Nampoothiri, Suresh Edayankara Kadangot, Frenny Sheth, Sarita Gupta and Jayesh Sheth J Hum Genet 2015 60: 285; 10.1038/jhg.2015.27 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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