نتائج البحث - "SMAD3 gene"

المساهمون: Département de Génétique (Hôpital Bichat), Laboratoire de Recherche Vasculaire Translationnelle (LVTS (UMR_S_1148 / U1148)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées (AP HP, hôpital Bichat), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Chirurgie Vasculaire (SCV-AP-MM Marseille), Hôpital Nord AP‐MM Marseille, France (AP‐MM Marseille), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), CHU de Bordeaux Pellegrin [Bordeaux], Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Nancy (CHU Nancy), Hôpital Sud [CHU Rennes], CHU Pontchaillou [Rennes], Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CARBILLET, Véronique

المصدر: Genetics in Medicine
Genetics in Medicine, 2019, 21 (9), pp.2015-2024. ⟨10.1038/s41436-019-0444-y⟩

مصطلحات موضوعية: Male, Proband, class 4 and 5 variants, Fibrillin-1, SMAD3 gene, MESH: Fibrillin-1 / genetics, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Child, Pathology, Molecular, MESH: Aneurysm, Dissecting / genetics, Child, MESH: High-Throughput Nucleotide Sequencing, Genetics (clinical), MESH: Aged, Aortic dissection, Genetics, FBN1 gene, MESH: Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Middle Aged, Predictive value, Pedigree, Codon, Nonsense, NGS, MESH: Aortic Aneurysm, Thoracic / genetics, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Female, Premature Termination Codon, Adult, Adolescent, Autosomal dominant transmission, Young Adult, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Smad3 Protein, MESH: Codon, Nonsense / genetics, Gene, Aged, MESH: Adolescent, Genetic diversity, Aortic Aneurysm, Thoracic, business.industry, Genetic heterogeneity, MESH: Aortic Aneurysm, Thoracic / diagnosis, MESH: Aneurysm, Dissecting / diagnosis, MESH: Adult, MESH: Genetic Testing / methods, medicine.disease, thoracic aortic aneurysms and dissections, Aortic Dissection, Mutation, business, MESH: Aneurysm, Dissecting / physiopathology, MESH: Female