Associated Papers
[Ehlers-Danlos syndromes: Diagnosis and care pathway of these complex and multisystemic diseases].
Benistan K et al.
La Revue De Medecine Interne, 2026
Placing joint hypermobility in context: traits, disorders and syndromes.
Morlino S et al.
British Medical Bulletin, 2023
In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function.
Shinwari K et al.
Bmc Bioinformatics, 2023
Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Takeda R et al.
American Journal of Medical Genetics. Part A, 2022
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
The Ehlers-Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism.
Van Damme T et al.
Genes, 2022
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.
Dhooge T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.
Gnoli M et al.
Frontiers in Genetics, 2021
Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential.
Vroman R et al.
Frontiers in Genetics, 2021
Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders.
Micale L et al.
Advances in Experimental Medicine and Biology, 2021
Arterial complications in classical Ehlers-Danlos syndrome: a case series.
Angwin C et al.
Journal of Medical Genetics, 2020
Bone Disease in Patients with Ehlers-Danlos Syndromes.
Basalom S et al.
Current Osteoporosis Reports, 2020
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Ghali N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.
Cortini F et al.
Archives of Dermatological Research, 2019
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
The 2017 international classification of the Ehlers-Danlos syndromes.
Malfait F et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
Colombi M et al.
American Journal of Medical Genetics. Part A, 2017
A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype.
Lund A et al.
Clinical Genetics, 2008
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Cabral WA et al.
Human Mutation, 2007
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
Malfait F et al.
Human Mutation, 2007
[Rare coincidence of Ehlers-Danlos syndrome, diabetes mellitus and pregnancy].
Leis R et al.
Zentralblatt Fur Gynakologie, 1986
[THE EHLERS-DANLOS SYNDROME IN A KOREAN KINDRED].
MIN HK et al.
Taehan Naekwa Hakhoe Chapchi = the Korean Journal of Internal Medicine, 1963