المؤلفون: 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.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Mar; Vol. 30 (3), pp. 291-297. Date of Electronic Publication: 2021 Dec 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibroma*/genetics , Neurofibromatosis 1*/diagnosis , Neurofibromatosis 1*/genetics , Neurofibromatosis 1*/pathology, Cafe-au-Lait Spots/genetics ; Genetic Association Studies ; Humans ; Longitudinal Studies

المؤلفون: Babovic-Vuksanovic D; Department of Medical Genetics, Mayo College of Medicine, Rochester, MN 55905, USA. dbabovic@mayo.edu, Messiaen L, Nagel C, Brems H, Scheithauer B, Denayer E, Mao R, Sciot R, Janowski KM, Schuhmann MU, Claes K, Beert E, Garrity JA, Spinner RJ, Stemmer-Rachamimov A, Gavrilova R, Van Calenbergh F, Mautner V, Legius E

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Jun; Vol. 20 (6), pp. 618-25. Date of Electronic Publication: 2012 Jan 18.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Marfan Syndrome/*pathology , Nerve Sheath Neoplasms/*pathology , Neurofibromatoses/*pathology, Adolescent ; Face/abnormalities ; Female ; Humans ; Male ; Mutation ; Pain/genetics ; Pain/pathology ; Schwann Cells/metabolism ; Young Adult

المؤلفون: Vermeulen SJ; Center for Medical Genetics, 0K5, Ghent University Hospital, Ghent, Belgium. stefan.vermeulen@UGent.be, Speleman F, Vanransbeeck L, Verspeet J, Menten B, Verschraegen-Spae MR, Wilde PD, Messiaen L, Michaelis RC, Leroy JG

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2005 Jan; Vol. 13 (1), pp. 52-8.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion* , Chromosome Inversion* , Gene Duplication* , Recombination, Genetic*, Chromosomes, Human, Pair 18/*genetics , Mental Disorders/*genetics, Adolescent ; Aged ; Aged, 80 and over ; Female ; Heterozygote ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Pedigree

المؤلفون: Wimmer K; Institut für Medizinische Biologie, University of Vienna, Austria. katharina.wimmer@univie.ac.at, Mühlbauer M, Eckart M, Callens T, Rehder H, Birkner T, Leroy JG, Fonatsch C, Messiaen L

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2002 May; Vol. 10 (5), pp. 334-8.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: RNA Splice Sites*, Neurofibromatosis 1/*genetics , Spinal Cord Neoplasms/*genetics, Adult ; Female ; Humans ; Mutation ; Spinal Nerve Roots