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Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos, Elisabeth; Rosas, Inma; Negro, Alex; Gel, Bernat; Alibés, Andreu; Baena, Neus; Pineda, Mercè; Pi, Graciela; Pintos, Guillem; Salvador, Hector; Lázaro, Conxi; Blanco, Ignacio; Vilageliu, Lluïsa; Brems, Hilde; Grinberg, Daniel; Legius, Eric; Serra, Eduard.
Afiliación
  • Castellanos E; Hereditary Cancer Group, Program of Predictive and Personalized Medicine of Cancer (PMPPC), Germans Trias & Pujol Research Institute (IGTP), Barcelona, Spain.
  • Rosas I; Hereditary Cancer Group, Program of Predictive and Personalized Medicine of Cancer (PMPPC), Germans Trias & Pujol Research Institute (IGTP), Barcelona, Spain.
  • Negro A; Hereditary Cancer Group, Program of Predictive and Personalized Medicine of Cancer (PMPPC), Germans Trias & Pujol Research Institute (IGTP), Barcelona, Spain.
  • Gel B; Hereditary Cancer Group, Program of Predictive and Personalized Medicine of Cancer (PMPPC), Germans Trias & Pujol Research Institute (IGTP), Barcelona, Spain.
  • Alibés A; Cancer Genetics and Epigenetics Group, Program of Predictive and Personalized Medicine of Cancer (PMPPC), Germans Trias & Pujol Research Institute (IGTP), Barcelona, Spain.
  • Baena N; Genetics Laboratory of the UDIAT-CD, Parc Tauli Health Corporation, Barcelona, Spain.
  • Pineda M; Neuropaediatrics Unit, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Pi G; Neuropaediatrics Unit, La Ribera Hospital, Valencia, Spain.
  • Pintos G; Department of Pediatrics, Germans Trias i Pujol University Hospital and Research Institute (IGTP), Universitat de Barcelona, Barcelona, Spain.
  • Salvador H; Paediatrics Oncology Unit, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL-ONCOBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
  • Blanco I; Centro de Investigación Biomédica en RED (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain.
  • Vilageliu L; Clinical Genetics and Genetic Counseling Program, Germans Trias i Pujol Hospital, Barcelona, Spain.
  • Brems H; Department of Genetics, Microbiology and Statistics, Facultat de Biologia, Universitat de Barcelona (UB), IBUB, IRSJD, CIBERER, Barcelona, Spain.
  • Grinberg D; Laboratory for Neurofibromatosis Research, Department of Human Genetics, KU Leuven University Hospital, Leuven, Belgium.
  • Legius E; Department of Genetics, Microbiology and Statistics, Facultat de Biologia, Universitat de Barcelona (UB), IBUB, IRSJD, CIBERER, Barcelona, Spain.
  • Serra E; Laboratory for Neurofibromatosis Research, Department of Human Genetics, KU Leuven University Hospital, Leuven, Belgium.
Clin Genet ; 97(2): 264-275, 2020 02.
Article en En | MEDLINE | ID: mdl-31573083
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pruebas Genéticas / Neurofibromatosis 1 / Manchas Café con Leche / Diagnóstico Precoz Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article País de afiliación: España
Texto completo
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XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pruebas Genéticas / Neurofibromatosis 1 / Manchas Café con Leche / Diagnóstico Precoz Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article País de afiliación: España