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Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Motta, Marialetizia; Sagi-Dain, Lena; Krumbach, Oliver H F; Hahn, Andreas; Peleg, Amir; German, Alina; Lissewski, Christina; Coppola, Simona; Pantaleoni, Francesca; Kocherscheid, Luisa; Altmüller, Franziska; Schanze, Denny; Logeswaran, Thushiha; Chahrokh-Zadeh, Soheyla; Munzig, Anna; Nakhaei-Rad, Saeideh; Cavé, Hélène; Ahmadian, Mohammad R; Tartaglia, Marco; Zenker, Martin.
Afiliación
  • Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Sagi-Dain L; The Human Genetic institute, Carmel Medical Center, Ruth and Bruce Rappaport Faculty of Medicine, Israel Institute of Technology, Haifa, Israel.
  • Krumbach OHF; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.
  • Hahn A; Department of Child Neurology, University Hospital, Gießen, Germany.
  • Peleg A; The Human Genetic institute, Carmel Medical Center, Ruth and Bruce Rappaport Faculty of Medicine, Israel Institute of Technology, Haifa, Israel.
  • German A; Pediatric Department, Bnai-Zion Medical Center and Clalit Health Maintenance Organization, Haifa, Israel.
  • Lissewski C; Institute of Human Genetics, University Hospital, Magdeburg, Germany.
  • Coppola S; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
  • Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Kocherscheid L; Institute of Human Genetics, University Hospital, Magdeburg, Germany.
  • Altmüller F; Institute of Human Genetics, University Hospital, Magdeburg, Germany.
  • Schanze D; Institute of Human Genetics, University Hospital, Magdeburg, Germany.
  • Logeswaran T; Pediatric Heart Center, University Hospital, Gießen, Germany.
  • Chahrokh-Zadeh S; Center of Human Genetics and Laboratory Diagnostics, Martinsried, Germany.
  • Munzig A; Center of Human Genetics and Laboratory Diagnostics, Martinsried, Germany.
  • Nakhaei-Rad S; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.
  • Cavé H; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, 75019 Paris, France.
  • Ahmadian MR; INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, 75010 Paris, France.
  • Tartaglia M; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.
  • Zenker M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Hum Mol Genet ; 29(11): 1772-1783, 2020 07 21.
Article en En | MEDLINE | ID: mdl-31108500
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cardiomiopatía Hipertrófica / Proteínas ras / Péptidos y Proteínas de Señalización Intracelular / Proteína Fosfatasa 1 / Síndrome de Noonan Tipo de estudio: Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cardiomiopatía Hipertrófica / Proteínas ras / Péptidos y Proteínas de Señalización Intracelular / Proteína Fosfatasa 1 / Síndrome de Noonan Tipo de estudio: Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Italia