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Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
Pinna, Valentina; Daniele, Paola; Calcagni, Giulio; Mariniello, Lucio; Criscione, Roberta; Giardina, Chiara; Lepri, Francesca Romana; Hozhabri, Hossein; Alberico, Angela; Cavone, Stefania; Morella, Annunziata Tina; Mandile, Roberta; Annunziata, Francesca; Di Giosaffatte, Niccolò; D'Asdia, Maria Cecilia; Versacci, Paolo; Capolino, Rossella; Strisciuglio, Pietro; Giustini, Sandra; Melis, Daniela; Digilio, Maria Cristina; Tartaglia, Marco; Marino, Bruno; De Luca, Alessandro.
Afiliación
  • Pinna V; UOS Diagnosi Genetica Molecolare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy. v.pinna@css-mendel.it.
  • Daniele P; UOS Diagnosi Genetica Molecolare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy. p.daniele@css-mendel.it.
  • Calcagni G; Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Pediatric Hospital and Research Institute, 00165 Rome, Italy. giulio.calcagni@opbg.net.
  • Mariniello L; Department of Translational Medical Science, Section of Pediatrics, Federico II University, 80100 Naples, Italy. lumar1292@gmail.com.
  • Criscione R; UOS Diagnosi Genetica Molecolare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy. rcriscione.92@gmail.com.
  • Giardina C; Department of Pediatrics, Sapienza University of Rome, 00161 Rome, Italy. rcriscione.92@gmail.com.
  • Lepri FR; UOS Diagnosi Genetica Molecolare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy. chiaragiardinasanchez@gmail.com.
  • Hozhabri H; Department of Pediatrics, Sapienza University of Rome, 00161 Rome, Italy. chiaragiardinasanchez@gmail.com.
  • Alberico A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. francescaromana.lepri@opbg.net.
  • Cavone S; UOS Diagnosi Genetica Molecolare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy. h.hozhabri@css-mendel.it.
  • Morella AT; UOS Diagnosi Genetica Molecolare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy. a.alberico@css-mendel.it.
  • Mandile R; UOS Diagnosi Genetica Molecolare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy. s.cavone@css-mendel.it.
  • Annunziata F; UOS Diagnosi Genetica Molecolare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy. a.morella@css-mendel.it.
  • Di Giosaffatte N; Department of Translational Medical Science, Section of Pediatrics, Federico II University, 80100 Naples, Italy. rmandile91@gmail.com.
  • D'Asdia MC; UOS Diagnosi Genetica Molecolare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy. f.annunziata@css-mendel.it.
  • Versacci P; UOS Diagnosi Genetica Molecolare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy. niccolo.digiosaffatte@gmail.com.
  • Capolino R; UOS Diagnosi Genetica Molecolare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy. m.dasdia@css-mendel.it.
  • Strisciuglio P; Department of Pediatrics, Sapienza University of Rome, 00161 Rome, Italy. paolo.versacci@uniroma1.it.
  • Giustini S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. rossella.capolino@opbg.net.
  • Melis D; Department of Translational Medical Science, Section of Pediatrics, Federico II University, 80100 Naples, Italy. pietro.strisciuglio@unina.it.
  • Digilio MC; Department of Dermatology and Venereology, Sapienza University of Rome, Policlinico Umberto I, 00161 Rome, Italy. sandra.giustini@uniroma1.it.
  • Tartaglia M; Department of Translational Medical Science, Section of Pediatrics, Federico II University, 80100 Naples, Italy. daniela.melis@unina.it.
  • Marino B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. mcristina.digilio@opbg.net.
  • De Luca A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. marco.tartaglia@opbg.net.
Genes (Basel) ; 10(9)2019 09 04.
Article en En | MEDLINE | ID: mdl-31487937
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neurofibromatosis 1 / Neurofibromina 1 / Cardiopatías Congénitas / Mutación Tipo de estudio: Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Genes (Basel) Año: 2019 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: Neurofibromatosis 1 / Neurofibromina 1 / Cardiopatías Congénitas / Mutación Tipo de estudio: Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Genes (Basel) Año: 2019 Tipo del documento: Article País de afiliación: Italia