Associated Papers
Generation of an induced pluripotent stem cell and isogenic control line from a vascular Ehlers-Danlos Syndrome (vEDS) patient harboring a pathogenic c.755G>T in the COL3A1 gene.
Ming Wu SC et al.
Stem Cell Research, 2026
Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesis.
Micale L et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
[Expert consensus on the standardized application of whole exome sequencing technology in diagnosis of genetic disorders].
Medical Genetics Branch Of Chinese Medical Association et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
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
Operative repair of right intrathoracic subclavian artery aneurysms in patients with genetic arteriopathy.
French BL et al.
Journal of Vascular Surgery Cases and Innovative Techniques, 2023
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
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
Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.
Adham S et al.
Orphanet Journal of Rare Diseases, 2018
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
Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome.
Morissette R et al.
Circulation. Cardiovascular Genetics, 2014
Disease-causing allele-specific silencing by RNA interference.
Hohjoh H
Pharmaceuticals (basel, Switzerland), 2013
Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.
Müller GA et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012
Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.
Ferré FC et al.
Bmj Open, 2012
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.
Kerwin W et al.
The International Journal of Cardiovascular Imaging, 2008
Vascular Ehlers-Danlos Syndrome: Pathological Variants, Recent Discoveries, and Theoretical Approaches.
Assavarittirong C et al.
Cardiology in Review, 0