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MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome.
Kato, Kohji; Miya, Fuyuki; Hamada, Nanako; Negishi, Yutaka; Narumi-Kishimoto, Yoko; Ozawa, Hiroshi; Ito, Hidenori; Hori, Ikumi; Hattori, Ayako; Okamoto, Nobuhiko; Kato, Mitsuhiro; Tsunoda, Tatsuhiko; Kanemura, Yonehiro; Kosaki, Kenjiro; Takahashi, Yoshiyuki; Nagata, Koh-Ichi; Saitoh, Shinji.
Afiliación
  • Kato K; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Miya F; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Hamada N; Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
  • Negishi Y; Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, Tokyo, Japan.
  • Narumi-Kishimoto Y; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan.
  • Ozawa H; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Ito H; Department of Pediatrics, Shimada Ryoiku Center Hachiouji, Tokyo, Japan.
  • Hori I; Department of Pediatrics, Shimada Ryoiku Center Hachiouji, Tokyo, Japan.
  • Hattori A; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan.
  • Okamoto N; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Kato M; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Tsunoda T; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Kanemura Y; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
  • Kosaki K; Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
  • Takahashi Y; Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, Tokyo, Japan.
  • Nagata KI; Division of Biomedical Research and Innovation, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, Japan.
  • Saitoh S; Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, Osaka, Japan.
J Med Genet ; 56(6): 388-395, 2019 06.
Article en En | MEDLINE | ID: mdl-30573562
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Megalencefalia / Proteína Proto-Oncogénica N-Myc / Mutación con Ganancia de Función Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Animals / Humans / Male Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Megalencefalia / Proteína Proto-Oncogénica N-Myc / Mutación con Ganancia de Función Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Animals / Humans / Male Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido