Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Challenges in the Management of Patients with Vascular Ehlers-Danlos Syndrome: Lessons from three Clinical Cases.
Alayasa L et al.
European Journal of Case Reports in Internal Medicine, 2025
COL3A1 Variants in Spontaneous Coronary Artery Dissection.
McGrath-Cadell L et al.
Jacc. Advances, 2024
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.
Bowen JM et al.
European Journal of Human Genetics : Ejhg, 2023
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Case report: Spontaneous coronary artery dissection in a man with Ehlers-Danlos syndrome.
Li Q et al.
Frontiers in Cardiovascular Medicine, 2022
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.
Ritelli M et al.
Clinical Genetics, 2020
Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.
Legrand A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.
Keppler-Noreuil KM et al.
American Journal of Medical Genetics. Part A, 2017
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Frank M et al.
European Journal of Human Genetics : Ejhg, 2015
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
Pepin MG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
Drera B et al.
Journal of Dermatological Science, 2011
A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA.
Naing BT et al.
Biochemical and Biophysical Research Communications, 2011