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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-30573562
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Genetic Association Studies / Megalencephaly / N-Myc Proto-Oncogene Protein / Gain of Function Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Animals / Humans / Male Language: En Journal: J Med Genet Year: 2019 Type: Article Affiliation country: Japan
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Genetic Association Studies / Megalencephaly / N-Myc Proto-Oncogene Protein / Gain of Function Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Animals / Humans / Male Language: En Journal: J Med Genet Year: 2019 Type: Article Affiliation country: Japan