Associated Papers
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants
Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome.
Junkiert-Czarnecka A et al.
Current Issues in Molecular Biology, 2022
Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.
Fager Ferrari M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
Richer J et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2020
New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases.
Junkiert-Czarnecka A et al.
Postepy Dermatologii I Alergologii, 2019
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.
Lucas SEM et al.
Plos One, 2018
29924831 (PubMed )
Supplement: pone.0199178.s003.xlsx › Sheet1
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.
Schubert JA et al.
American Journal of Medical Genetics. Part A, 2016
[Joint hypermobility, skin hyper-elasticity, connective tissue fragility: classical symptoms of Ehlers-Danlos syndrome].
Häggblom L et al.
Lakartidningen, 1995
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A et al.
Journal of Veterinary Internal Medicine, 0
37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2A-ClinVar_COL5A1
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