Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
COL3A1 Variants in Spontaneous Coronary Artery Dissection.
McGrath-Cadell L et al.
Jacc. Advances, 2024
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Demirdas S et al.
Circulation. Genomic and Precision Medicine, 2024
38623759 (PubMed )
Supplement: hcg-17-e003978-s001.pdf
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.
Votýpka P et al.
International Journal of Legal Medicine, 2023
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
36977837 (PubMed )
Supplement: 41431_2023_1343_MOESM1_ESM.pdf
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Yamaguchi T et al.
American Journal of Medical Genetics. Part A, 2023
Clinical features and morphology of collagen fibrils in patients with vascular Ehlers-Danlos based on electron microscopy.
Ishikawa S et al.
Frontiers in Genetics, 2023
37655064 (PubMed )
Supplement: DataSheet2.xlsx › Patients__variants_in_COL3A1_
A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
Shalhub S et al.
Journal of Vascular Surgery, 2019
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
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
Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.
Ferré FC et al.
Bmj Open, 2012
Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.
Shimaoka Y et al.
The British Journal of Dermatology, 2010
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