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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Forde, Claire; Burkitt-Wright, Emma; Turnpenny, Peter D; Haan, Eric; Ealing, John; Mansour, Sahar; Holder, Muriel; Lahiri, Nayana; Dixit, Abhijit; Procter, Annie; Pacot, Laurence; Vidaud, Dominique; Capri, Yline; Gerard, Marion; Dollfus, Hélène; Schaefer, Elise; Quelin, Chloé; Sigaudy, Sabine; Busa, Tiffany; Vera, Gabriella; Damaj, Lena; Messiaen, Ludwine; Stevenson, David A; Davies, Peter; Palmer-Smith, Sheila; Callaway, Alison; Wolkenstein, Pierre; Pasmant, Eric; Upadhyaya, Meena.
Afiliación
  • Forde C; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Burkitt-Wright E; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Turnpenny PD; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Haan E; South Australia Clinical Genetics Services, North Adelaide, SA, Australia.
  • Ealing J; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Mansour S; Department Of Clinical Genetics, St George's University NHS Foundation Trust, London, UK.
  • Holder M; Genetics Service, South East Thames Regional Genetics Service, London, UK.
  • Lahiri N; Department Of Clinical Genetics, St George's University NHS Foundation Trust, London, UK.
  • Dixit A; Clinical Genetics Department, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Procter A; All Wales Medical Genetics Service, Cardiff, UK.
  • Pacot L; Service de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP.Centre-Université de Paris, Paris, France and Institut Cochin, Inserm U1016-CNRS UMR8104-Université de Paris, CARPEM, Paris, France.
  • Vidaud D; Service de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP.Centre-Université de Paris, Paris, France and Institut Cochin, Inserm U1016-CNRS UMR8104-Université de Paris, CARPEM, Paris, France.
  • Capri Y; Department of Clinical Genetics, Robert-Debré Hospital, AP-HP and University of Paris-Diderot, Paris, France.
  • Gerard M; Service de Génétique Médicale, CHU Caen, Caen, France.
  • Dollfus H; Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique, CARGO, Filière SENSGENE, Hôpitaux Universitaires de Strasbourg; Medical Genetics Laboratory, INSERM U1112, Institute of Medical Genetics of Alsace, Strasbourg Medical School, University of Strasbourg, Strasbourg, France.
  • Schaefer E; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace, Strasbourg, France.
  • Quelin C; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.
  • Sigaudy S; Department of Medical Genetics, Children's Hospital La Timone, Assistance Publique des Hôpitaux de Marseille, Marseille, France.
  • Busa T; Department of Medical Genetics, Children's Hospital La Timone, Assistance Publique des Hôpitaux de Marseille, Marseille, France.
  • Vera G; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Damaj L; Department of Pediatrics, Competence Center of Inherited Metabolic Disorders, Rennes University Hospital, Rennes, France.
  • Messiaen L; Department of Genetics, University of Alabama at Birmingham, Alabama, USA.
  • Stevenson DA; Division of Medical Genetics, Department of Paediatrics, Stanford University, Stanford, USA.
  • Davies P; All Wales Medical Genetics Service, Cardiff, UK.
  • Palmer-Smith S; All Wales Medical Genetics Service, Cardiff, UK.
  • Callaway A; Molecular Genetics, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Wolkenstein P; Département de Dermatologie, AP-HP and UPEC, Hôpital Henri-Mondor, Créteil, France.
  • Pasmant E; Service de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP.Centre-Université de Paris, Paris, France and Institut Cochin, Inserm U1016-CNRS UMR8104-Université de Paris, CARPEM, Paris, France.
  • Upadhyaya M; Division of Cancer and Genetics, Cardiff University, Cardiff, UK. upadhyaya@cardiff.ac.uk.
Eur J Hum Genet ; 30(3): 291-297, 2022 03.
Article en En | MEDLINE | ID: mdl-34897289
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neurofibromatosis 1 / Neurofibroma Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neurofibromatosis 1 / Neurofibroma Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido