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Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.
Miyake, Noriko; Takahashi, Hidehisa; Nakamura, Kazuyuki; Isidor, Bertrand; Hiraki, Yoko; Koshimizu, Eriko; Shiina, Masaaki; Sasaki, Kazunori; Suzuki, Hidefumi; Abe, Ryota; Kimura, Yayoi; Akiyama, Tomoko; Tomizawa, Shin-Ichi; Hirose, Tomonori; Hamanaka, Kohei; Miyatake, Satoko; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Obo, Kazuyuki; Kato, Mitsuhiro; Ogata, Kazuhiro; Matsumoto, Naomichi.
Afiliación
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address: nmiyake@yokohama-cu.ac.jp.
  • Takahashi H; Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Nakamura K; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata 990-9585, Japan.
  • Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 44093 Nantes, France.
  • Hiraki Y; Hiroshima Municipal Center for Child Health and Development, Hiroshima 732-0052, Japan.
  • Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
  • Sasaki K; Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Suzuki H; Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Abe R; Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Kimura Y; Advanced Medical Research Center, Yokohama City University, Yokohama 236-0004, Japan.
  • Akiyama T; Advanced Medical Research Center, Yokohama City University, Yokohama 236-0004, Japan.
  • Tomizawa SI; Department of Histology and Cell Biology, Yokohama City University School of Medicine, Yokohama 236-0004, Japan.
  • Hirose T; Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, 236-0004, Japan.
  • Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Obo K; Department of Histology and Cell Biology, Yokohama City University School of Medicine, Yokohama 236-0004, Japan.
  • Kato M; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata 990-9585, Japan; Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan.
  • Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address: naomat@yokohama-cu.ac.jp.
Am J Hum Genet ; 106(1): 13-25, 2020 01 02.
Article en En | MEDLINE | ID: mdl-31839203
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Transactivadores / Regulación de la Expresión Génica / Eliminación de Secuencia / Anomalías Craneofaciales / Proteínas Supresoras de Tumor / Mutación con Ganancia de Función Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Transactivadores / Regulación de la Expresión Génica / Eliminación de Secuencia / Anomalías Craneofaciales / Proteínas Supresoras de Tumor / Mutación con Ganancia de Función Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos