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Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Garcia, Belen; Catasus, Nuria; Ros, Andrea; Rosas, Inma; Negro, Alejandro; Guerrero-Murillo, Mercedes; Valero, Ana Maria; Duat-Rodriguez, Anna; Becerra, Juan Luis; Bonache, Sandra; Lázaro Garcia, Conxi; Comas, Carmina; Bielsa, Isabel; Serra, Eduard; Hernández-Chico, Concepción; Martin, Yolanda; Castellanos, Elisabeth; Blanco, Ignacio.
Affiliation
  • Garcia B; Genetic Counseling Unit, Clinical Genetics Service, Northern Metropolitan Clinical Laboratory, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
  • Catasus N; Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain.
  • Ros A; Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain.
  • Rosas I; Genetic Counseling Unit, Clinical Genetics Service, Northern Metropolitan Clinical Laboratory, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
  • Negro A; Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain.
  • Guerrero-Murillo M; Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain.
  • Valero AM; Clinical Genomics Unit-Genetics Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
  • Duat-Rodriguez A; Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain.
  • Becerra JL; Clinical Genomics Unit-Genetics Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
  • Bonache S; Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain.
  • Lázaro Garcia C; Clinical Genomics Unit-Genetics Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
  • Comas C; Servicio de Genética, Hospital Universitario Ramon y Cajal, Madrid, Spain.
  • Bielsa I; Neurology Service, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
  • Serra E; Neurology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
  • Hernández-Chico C; Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain.
  • Martin Y; Clinical Genomics Unit-Genetics Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
  • Castellanos E; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology, L'Hospitalet de Llobregat, Spain.
  • Blanco I; Centro de Investigación Biomédica en Red de Cáncer, CIBERONC, Madrid, Spain.
J Med Genet ; 59(10): 1017-1023, 2022 Oct.
Article in En | MEDLINE | ID: mdl-35121649
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurofibromatosis 1 Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male Language: En Journal: J Med Genet Year: 2022 Type: Article Affiliation country: Spain
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurofibromatosis 1 Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male Language: En Journal: J Med Genet Year: 2022 Type: Article Affiliation country: Spain