Your browser doesn't support javascript.
loading
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
Nagata, Eiko; Kano, Hiroki; Kato, Fumiko; Yamaguchi, Rie; Nakashima, Shinichi; Takayama, Shinichiro; Kosaki, Rika; Tonoki, Hidefumi; Mizuno, Seiji; Watanabe, Satoshi; Yoshiura, Koh-Ichiro; Kosho, Tomoki; Hasegawa, Tomonobu; Kimizuka, Mamori; Suzuki, Atsushi; Shimizu, Kenji; Ohashi, Hirofumi; Haga, Nobuhiko; Numabe, Hironao; Horii, Emiko; Nagai, Toshiro; Yoshihashi, Hiroshi; Nishimura, Gen; Toda, Tatsushi; Takada, Shuji; Yokoyama, Shigetoshi; Asahara, Hiroshi; Sano, Shinichiro; Fukami, Maki; Ikegawa, Shiro; Ogata, Tsutomu.
Afiliação
  • Nagata E; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan. amn_e@hama-med.ac.jp.
  • Kano H; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan. kano@src.riken.jp.
  • Kato F; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan. fumifumi@hama-med.ac.jp.
  • Yamaguchi R; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan. lrs0701@hama-med.ac.jp.
  • Nakashima S; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan. nakashin@hama-med.ac.jp.
  • Takayama S; Department of Orthopedic Surgery, Tokyo, Japan. takayama-s@ncchd.go.jp.
  • Kosaki R; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan. kosaki-r@ncchd.go.jp.
  • Tonoki H; Section of Clinical Genetics, Department of Pediatrics, Tenshi Hospital, Sapporo, Japan. hidefumi.tonoki@tenshi.or.jp.
  • Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Japan. seiji_mizuno@aichi-colony.jp.
  • Watanabe S; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. swatanabe425@yahoo.co.jp.
  • Yoshiura K; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. kyoshi@nagasaki-u.ac.jp.
  • Kosho T; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. ktomoki@shinshu-u.ac.jp.
  • Hasegawa T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. thaseg@a6.keio.jp.
  • Kimizuka M; Department of Orthopedics, National Rehabilitation Center for Disabled Children, Tokyo, Japan. kimiduka@ryouiku.or.jp.
  • Suzuki A; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan. suzuki.atsushi.am@pref.saitama.lg.jp.
  • Shimizu K; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan. shimizu.kenji@pref.saitama.lg.jp.
  • Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan. ohashi.hirofumi@pref.saitama.lg.jp.
  • Haga N; Department of Rehabilitation Medicine, University of Tokyo, Tokyo, Japan. hagan-reh@h.u-tokyo.ac.jp.
  • Numabe H; Department of Genetic Counseling, Graduate School of Humanities and Sciences, Ochanomizu University, Tokyo, Japan. numabe.hironao@ocha.ac.jp.
  • Horii E; Department of Orthopedic Surgery, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya, Japan. emikoh_523523@yahoo.co.jp.
  • Nagai T; Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya, Japan. toshironagai@gmail.com.
  • Yoshihashi H; Division of Medical Genetics, Tokyo, Japan. hiroshi_yoshihashi@tmhp.jp.
  • Nishimura G; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan. gen-n@pc4.so-net.ne.jp.
  • Toda T; Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan. toda@med.kobe-u.ac.jp.
  • Takada S; Department of Systems Biomedicine, National Research Institute for Child Health and Development, Tokyo, Japan. takada-s@ncchd.go.jp.
  • Yokoyama S; Department of Systems Biomedicine, National Research Institute for Child Health and Development, Tokyo, Japan. shigetoshi.yokoyama@nih.gov.
  • Asahara H; Present address: Laboratory of Metabolism Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA. shigetoshi.yokoyama@nih.gov.
  • Sano S; Department of Systems Biomedicine, National Research Institute for Child Health and Development, Tokyo, Japan. asahara.syst@tmd.ac.jp.
  • Fukami M; Department of Systems Biomedicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan. asahara.syst@tmd.ac.jp.
  • Ikegawa S; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan. sanosin2u@yahoo.co.jp.
  • Ogata T; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan. sanosin2u@yahoo.co.jp.
Orphanet J Rare Dis ; 9: 125, 2014 Oct 21.
Article em En | MEDLINE | ID: mdl-25351291
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tíbia / Anormalidades Múltiplas / Deformidades Congênitas da Mão / Deformidades Congênitas dos Membros / Fatores de Transcrição Hélice-Alça-Hélice Básicos / Fêmur Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tíbia / Anormalidades Múltiplas / Deformidades Congênitas da Mão / Deformidades Congênitas dos Membros / Fatores de Transcrição Hélice-Alça-Hélice Básicos / Fêmur Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2014 Tipo de documento: Article