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Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.
Motta, Marialetizia; Giancotti, Antonella; Mastromoro, Gioia; Chandramouli, Balasubramanian; Pinna, Valentina; Pantaleoni, Francesca; Di Giosaffatte, Niccolò; Petrini, Stefania; Mazza, Tommaso; D'Ambrosio, Valentina; Versacci, Paolo; Ventriglia, Flavia; Chillemi, Giovanni; Pizzuti, Antonio; Tartaglia, Marco; De Luca, Alessandro.
Afiliação
  • Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Giancotti A; Department of Maternal and Child Health and Urologic Science, Policlinico Umberto I Hospital, "Sapienza" University, Rome, Italy.
  • Mastromoro G; Department of Experimental Medicine, "Sapienza" University, Rome, Italy.
  • Chandramouli B; Compunet, Istituto Italiano di Tecnologia, Genoa, Italy.
  • Pinna V; Scuola Normale Superiore, Pisa, Italy.
  • Pantaleoni F; Molecular Genetics Unit, Fondazione Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Italy.
  • Di Giosaffatte N; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Petrini S; Molecular Genetics Unit, Fondazione Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Italy.
  • Mazza T; Confocal Microscopy Core Facility, Research Laboratories, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • D'Ambrosio V; Bioinformatics Unit, Fondazione Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Italy.
  • Versacci P; Department of Maternal and Child Health and Urologic Science, Policlinico Umberto I Hospital, "Sapienza" University, Rome, Italy.
  • Ventriglia F; Department of Pediatrics, Università Sapienza, Rome, Italy.
  • Chillemi G; Department of Pediatrics, Università Sapienza, Rome, Italy.
  • Pizzuti A; DIBAF, Università della Tuscia, Viterbo, Italy.
  • Tartaglia M; Department of Experimental Medicine, "Sapienza" University, Rome, Italy.
  • De Luca A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Hum Mutat ; 40(8): 1046-1056, 2019 08.
Article em En | MEDLINE | ID: mdl-31059601
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Peptídeos e Proteínas de Sinalização Intracelular / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2019 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Peptídeos e Proteínas de Sinalização Intracelular / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2019 Tipo de documento: Article