Associated Papers
Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome.
Stephens SB et al.
Journal of the American Heart Association, 2023
37776192 (PubMed )
Supplement: JAH3-12-e029518-s001.pdf
Splenic artery pathology presentation, operative interventions, and outcomes in 88 patients with vascular Ehlers-Danlos syndrome.
Shalhub S et al.
Journal of Vascular Surgery, 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
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
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
Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome.
Morissette R et al.
Circulation. Cardiovascular Genetics, 2014
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.
Kerwin W et al.
The International Journal of Cardiovascular Imaging, 2008
Select a paper to view details