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p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Pinna, Valentina; Lanari, Valentina; Daniele, Paola; Consoli, Federica; Agolini, Emanuele; Margiotti, Katia; Bottillo, Irene; Torrente, Isabella; Bruselles, Alessandro; Fusilli, Caterina; Ficcadenti, Anna; Bargiacchi, Sara; Trevisson, Eva; Forzan, Monica; Giustini, Sandra; Leoni, Chiara; Zampino, Giuseppe; Digilio, Maria Cristina; Dallapiccola, Bruno; Clementi, Maurizio; Tartaglia, Marco; De Luca, Alessandro.
Afiliación
  • Pinna V; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
  • Lanari V; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
  • Daniele P; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
  • Consoli F; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
  • Agolini E; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
  • Margiotti K; 1] IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy [2] PRABB-Centro Integrato di Ricerca, Campus Bio-Medico University, Rome, Italy.
  • Bottillo I; 1] IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy [2] Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
  • Torrente I; 1] IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy [2] San Camillo-Forlanini Hospital, Rome, Italy.
  • Bruselles A; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
  • Fusilli C; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
  • Ficcadenti A; Pediatric Division, Department of Clinical Sciences, Rare Diseases Regional Centre, Polytechnic University of Marche Ospedali Riuniti, Ancona, Italy.
  • Bargiacchi S; Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy.
  • Trevisson E; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
  • Forzan M; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
  • Giustini S; Department of Dermatology, Sapienza University of Rome, Policlinico Umberto I, Rome, Italy.
  • Leoni C; Istituto di Clinica Pediatrica, Università Cattolica del Sacro Cuore, Rome, Italy.
  • Zampino G; Istituto di Clinica Pediatrica, Università Cattolica del Sacro Cuore, Rome, Italy.
  • Digilio MC; Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Dallapiccola B; Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Clementi M; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
  • Tartaglia M; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
  • De Luca A; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
Eur J Hum Genet ; 23(8): 1068-71, 2015 Aug.
Article en En | MEDLINE | ID: mdl-25370043
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neurofibromatosis 1 / Neurofibromina 1 / Neurofibroma / Síndrome de Noonan Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Italia
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neurofibromatosis 1 / Neurofibromina 1 / Neurofibroma / Síndrome de Noonan Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Italia