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SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Priolo, Manuela; Palermo, Valentina; Aiello, Francesca; Ciolfi, Andrea; Pannone, Luca; Muto, Valentina; Motta, Marialetizia; Mancini, Cecilia; Radio, Francesca Clementina; Niceta, Marcello; Leoni, Chiara; Pintomalli, Letizia; Carrozzo, Rosalba; Rajola, Giuseppe; Mammì, Corrado; Zampino, Giuseppe; Martinelli, Simone; Dallapiccola, Bruno; Pichierri, Pietro; Tartaglia, Marco.
Afiliación
  • Priolo M; Genetica Medica, Grande Ospedale Metropolitano "Bianchi Melacrino Morelli", Reggio Calabria, Italy.
  • Palermo V; Department of Environment and Health Mechanisms, Istituto Superiore di Sanità, Rome, Italy.
  • Aiello F; Department of Environment and Health Mechanisms, Istituto Superiore di Sanità, Rome, Italy.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Pannone L; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Muto V; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Mancini C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Leoni C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Pintomalli L; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy.
  • Carrozzo R; Genetica Medica, Grande Ospedale Metropolitano "Bianchi Melacrino Morelli", Reggio Calabria, Italy.
  • Rajola G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Mammì C; UOC Pediatria, Azienda Ospedaliera "Pugliese-Ciaccio", Catanzaro, Italy.
  • Zampino G; Genetica Medica, Grande Ospedale Metropolitano "Bianchi Melacrino Morelli", Reggio Calabria, Italy.
  • Martinelli S; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy.
  • Dallapiccola B; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Pichierri P; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Tartaglia M; Department of Environment and Health Mechanisms, Istituto Superiore di Sanità, Rome, Italy.
Clin Genet ; 102(1): 12-21, 2022 07.
Article en En | MEDLINE | ID: mdl-35396703
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Werner / Síndrome de Noonan Tipo de estudio: Etiology_studies Límite: Child / Humans Idioma: En Revista: Clin Genet Año: 2022 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Werner / Síndrome de Noonan Tipo de estudio: Etiology_studies Límite: Child / Humans Idioma: En Revista: Clin Genet Año: 2022 Tipo del documento: Article País de afiliación: Italia