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Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoroso, Antonio; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo.
Afiliação
  • Giorgio E; University of Torino, Department of Medical Sciences, 10126, Turin, Italy.
  • Brussino A; University of Torino, Department of Medical Sciences, 10126, Turin, Italy.
  • Biamino E; University of Torino, Department of Public Health and Pediatrics, 10126, Turin, Italy.
  • Belligni EF; University of Torino, Department of Public Health and Pediatrics, 10126, Turin, Italy.
  • Bruselles A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.
  • Caputo V; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.
  • Calcia A; University of Torino, Department of Medical Sciences, 10126, Turin, Italy.
  • Di Gregorio E; University of Torino, Department of Medical Sciences, 10126, Turin, Italy; Città della Salute e della Scienza University Hospital, Medical Genetics Unit, Turin, Italy.
  • Cavalieri S; University of Torino, Department of Medical Sciences, 10126, Turin, Italy.
  • Mancini C; University of Torino, Department of Medical Sciences, 10126, Turin, Italy.
  • Pozzi E; University of Torino, Department of Medical Sciences, 10126, Turin, Italy.
  • Ferrero M; University of Torino, Department of Medical Sciences, 10126, Turin, Italy.
  • Riberi E; University of Torino, Department of Public Health and Pediatrics, 10126, Turin, Italy.
  • Borelli I; University of Torino, Department of Medical Sciences, 10126, Turin, Italy.
  • Amoroso A; University of Torino, Department of Medical Sciences, 10126, Turin, Italy.
  • Ferrero GB; University of Torino, Department of Public Health and Pediatrics, 10126, Turin, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.
  • Brusco A; University of Torino, Department of Medical Sciences, 10126, Turin, Italy; Città della Salute e della Scienza University Hospital, Medical Genetics Unit, Turin, Italy. Electronic address: alfredo.brusco@unito.it.
Eur J Paediatr Neurol ; 21(3): 475-484, 2017 May.
Article em En | MEDLINE | ID: mdl-28027854
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Inativação do Cromossomo X / Exoma / Deficiência Intelectual Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Inativação do Cromossomo X / Exoma / Deficiência Intelectual Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article