Associated Papers
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1
Varied Presentations of Arterial Events in Vascular Ehlers-Danlos Syndrome.
Jaiswal M et al.
Jacc. Case Reports, 2025
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
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T et al.
Journal of the American Heart Association, 2023
37042257 (PubMed )
Supplement: JAH3-12-e028625-s001.pdf
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.
Wei X et al.
Frontiers in Genetics, 2023
Asymptomatic bilateral common iliac artery dissections in previously undiagnosed vascular Ehlers-Danlos syndrome.
Lavoie M et al.
Bmj Case Reports, 2019
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
Next generation sequencing analysis of patients with familial cervical artery dissection.
Grond-Ginsbach C et al.
European Stroke Journal, 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
Type IV Ehlers-Danlos syndrome presenting as recurrent, bilateral carotid dissections.
Ellis RJ et al.
Bmj Case Reports, 2012
Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.
Rebelo M et al.
Acta Medica Portuguesa, 0
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