Associated Papers
Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome.
Foz Felipe D et al.
Genes, 2025
Surviving the storm: A 6-year journey with bowel perforations and aneurysms in vascular Ehlers-Danlos syndrome - A case report.
Habib FA et al.
International Journal of Surgery Case Reports, 2024
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
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
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
Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.
Steinle J et al.
American Journal of Medical Genetics. Part A, 2022
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study.
Veatch OJ et al.
Bmc Medical Genomics, 2022
Vascular Ehlers-Danlos syndrome with distinct histopathologic features.
Hwang HS et al.
Journal of Pathology and Translational Medicine, 2022
Assessment of arterial damage in vascular Ehlers-Danlos syndrome: A retrospective multicentric cohort.
Adham S et al.
Frontiers in Cardiovascular Medicine, 2022
Siblings with vascular Ehlers-Danlos syndrome inherited via maternal mosaicism.
Yokoi T et al.
Congenital Anomalies, 2021
Ehlers-Danlos syndrome presenting as cystic lung disease with recurrent pneumothorax: a case report.
Kim MJ et al.
Respirology Case Reports, 2021
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
Ehlers-Danlos syndromes and epilepsy: An updated review.
Cortini F et al.
Seizure, 2018
Fulminant myocardial bleeding: another clinical course of vascular Ehlers-Danlos Syndrome.
Tokue M et al.
Bmj Case Reports, 2017
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Weerakkody RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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
Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.
Ferré FC et al.
Bmj Open, 2012
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
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.
Kerwin W et al.
The International Journal of Cardiovascular Imaging, 2008
Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1.
Wendorff H et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0