Clinical correlations of mutations affecting six components of the SWI / SNF complex: Detailed description of 21 patients and a review of the literature
Year: 2013
Type: article
DOI: 10.1002/ajmg.a.35933
Authors: Tomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, Yoshinori Tsurusaki, Yoko Imai, Yumiko Hibi‐Ko, Hiroshi Kawame, Tomomi Homma, Saori Tanabe, Mitsuhiro Kato, Yoko Hiraki, Takanori Yamagata, Shoji Yano, Satoru Sakazume, Takuma Ishii, Toshiro Nagai, Tohru Ohta, Norio Niikawa, Seiji Mizuno, Tadashi Kaname, Kenji Naritomi, Yoko Narumi, Keiko Wakui, Yoshimitsu Fukushima, Satoko Miyatake, Takeshi Mizuguchi, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto
Institutions: Shinshu University, Shinshu University Hospital, Osaka Women's and Children's Hospital, Saitama Children's Medical Center, Yokohama City University, Japanese Red Cross Medical Center, Ochanomizu University, Nagano Children's Hospital, Yamagata Prefectural Shinjo Hospital, Nihonkai General Hospital, Yamagata Prefectural and Sakata Municipal Hospital Organization, Yamagata University, Jichi Medical University, University of Southern California, LAC+USC Medical Center, Dokkyo Medical University Saitama Medical Center, Health Sciences University of Hokkaido, Aichi Human Service Center, University of the Ryukyus
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: closed
Awards: Development of personalized diagnosis systems using combination of a supporting program for clinical diagnosis of genetic diseases with HRM analysis for molecular diagnosis, Gene identification using the efficient massive parallel sequencing and elucidation of the pathomechanism of the intractable diseases, Analysis for the pathogenesis and the target molecules of treatment for autism focusing on G-protein coupled receptors and synaptic molecules, Analysis of chromosomal structural abnormalities by next generation sequencing, Identification and characterization of target genes for the language-related human and chimpanzee FOXP2
OpenAlex ID: W2007686616