Art

J-GLOBAL ID：200902203591555723   Reference number：08A0137374

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

ヒト14q32.2のインプリンティング領域に影響を与える欠失とエピジェネティック変異を父親性および母親性upd(14)様表現型を有する個体で解析

Author (24)： KAGAMI Masayo (National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  SEKITA Yoichi (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  NISHIMURA Gen (Tokyo Metropolitan Kiyose Children’s Hospital, Tokyo, JPN) ,  IRIE Masahito (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  KATO Fumiko (National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  OKADA Michiyo (National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  YAMAMORI Shunji (Mitsubishi Chemical Medience Corp., Tokyo, JPN) ,  KISHIMOTO Hiroshi (Saitama Children’s Medical Center, Saitama, JPN) ,  NAKAYAMA Masahiro (Osaka Medical Center and Res. Inst. for Maternal and Child Health, Osaka, JPN) ,  TANAKA Yukichi (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  MATSUOKA Kentarou (National Center for Child Health and Dev., Tokyo, JPN) ,  TAKAHASHI Tsutomu (Akita Univ. School of Medicine, Akita, JPN) ,  NOGUCHI Mika (Chiba Kaihin Municipal Hospital, Chiba, JPN) ,  TANAKA Yoko (Tokyo Dental Coll. Ichikawa General Hospital, Ichikawa, JPN) ,  MASUMOTO Kouji (Kyushu Univ. School of Medicine, Fukuoka, JPN) ,  UTSUNOMIYA Takeshi (Kagoshima City Hospital, Kagoshima, JPN) ,  KOUZAN Hiroko (Takamatsu Red Cross Hospital, Takamatsu, JPN) ,  KOMATSU Yumiko (Numazu City Hospital, Numazu, JPN) ,  OHASHI Hirofumi (Saitama Children’s Medical Center, Saitama, JPN) ,  KUROSAWA Kenji (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  KOSAKI Kenjirou (Keio Univ. School of Medicine, Tokyo, JPN) ,  FERGUSON-SMITH Anne C (Univ. Cambridge, Cambridge, GBR) ,  ISHINO Fumitoshi (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  OGATA Tsutomu (National Res. Inst. for Child Health and Dev., Tokyo, JPN)
Material： Nature Genetics  (Nat Genet)
Volume： 40  Issue： 2  Page： 237-242  Publication year： Feb. 2008 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： autosome ,...
Semi thesaurus term： upd(14)様表現型 ,...

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JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (10)： ヒト ,  インプリンティング ,  欠失 ,  エピジェネティック ,  変異 ,  父親 ,  母親 ,  表現型 ,  個体 ,  解析