Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report.
Skei Sekkelsten AI et al.
European Journal of Medical Genetics, 2025
Vascular Ehlers-Danlos syndrome: a heritable condition with potentially fatal consequences.
Woods E et al.
The Lancet. Rheumatology, 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
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
Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome.
Legrand A et al.
Plos Genetics, 2022
Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential.
Vroman R et al.
Frontiers in Genetics, 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
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.
D'hondt S et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.
Kerwin W et al.
The International Journal of Cardiovascular Imaging, 2008