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
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
Nauth T et al.
The Journal of Clinical Investigation, 2025
Oral and maxillofacial clinical features of Ehlers-Danlos syndrome: a systematic review.
Antunes D et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2025
Intersecting Pathologies: COL1A1-Related Syndrome in the Setting of Childhood-Onset Hypopituitarism: Case Report and Literature Review.
Pelineagră OE et al.
Diagnostics (basel, Switzerland), 2025
Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders.
Abegglen O et al.
American Journal of Medical Genetics. Part A, 2025
Functional analysis of a novel variant in the COL5A1 gene in a Polish patient with the classical type of Ehlers-Danlos syndrome.
Junkiert-Czarnecka A et al.
Frontiers in Genetics, 2025
Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers-Danlos Syndrome.
Anand L et al.
Case Reports in Genetics, 2025
Genetic diagnosis of the Ehlers-Danlos syndromes.
Zschocke J et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2024
Placing joint hypermobility in context: traits, disorders and syndromes.
Morlino S et al.
British Medical Bulletin, 2023
Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation.
Colman M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The role of cutaneous manifestations in the diagnosis of the Ehlers-Danlos syndromes.
Stembridge N et al.
Skin Health and Disease, 2023
Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.
Amberger A et al.
Frontiers in Immunology, 2023
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes.
Syx D et al.
American Journal of Physiology. Cell Physiology, 2022
Multi-exon COL5A1 deletion in a child with classical Ehlers-Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.
Strang-Karlsson S et al.
Clinical Case Reports, 2022
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
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.
Lavanya K et al.
American Journal of Medical Genetics. Part A, 2022
Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.
Chen P et al.
Orphanet Journal of Rare Diseases, 2022
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.
Damseh N et al.
American Journal of Medical Genetics. Part A, 2022
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
Colman M et al.
Clinical and Experimental Rheumatology, 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
Clinical experience with non-invasive prenatal screening for single-gene disorders.
Mohan P et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen.
Chen P et al.
Frontiers in Genetics, 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
Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome.
Micale L et al.
Genes, 2021
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.
Colman M et al.
Human Mutation, 2021
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.
Foy M et al.
Clinical Case Reports, 2021
Glycine substitution mutation of COL5A1 in classic Ehlers-Danlos syndrome: a case report and literature review.
Gong Z et al.
Clinical and Experimental Dermatology, 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
Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing.
Ritelli M et al.
Molecular Genetics & Genomic Medicine, 2020
Surgical Management of Shoulder and Knee Instability in Patients with Ehlers-Danlos Syndrome: Joint Hypermobility Syndrome.
Homere A et al.
Clinics in Orthopedic Surgery, 2020
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.
Ritelli M et al.
Orphanet Journal of Rare Diseases, 2020
Bone Disease in Patients with Ehlers-Danlos Syndromes.
Basalom S et al.
Current Osteoporosis Reports, 2020
Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.
Kapferer-Seebacher I et al.
Acta Dermato-venereologica, 2020
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Morlino S et al.
Clinical Genetics, 2020
A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.
Duong J et al.
European Journal of Medical Genetics, 2020
Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant.
Adham S et al.
Clinical Genetics, 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