Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

C Gensemer, R Burks, S Kautz, DP Judge… - Developmental …, 2021 - Wiley Online Library
Abstract The Ehlers‐Danlos syndromes (EDS) are a group of heritable, connective tissue
disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility …

Biomarkers for Ehlers-Danlos syndromes: there is a role?

L Caliogna, V Guerrieri, S Annunziata, V Bina… - International Journal of …, 2021 - mdpi.com
Ehlers-Danlos syndromes (EDS) are an inherited heterogeneous group of connective tissue
disorders characterized by an abnormal collagen synthesis affecting skin, ligaments, joints …

Clinical significance of polymorphisms of genes encoding collagen (COL1A1, COL5A1) and their correlation with joint laxity and recurrent patellar dislocation in …

K Małecki, A Fabiś-Strobin, K Sałacińska, K Kwas… - Scientific Reports, 2023 - nature.com
The aim of this study was to assess the coexistence of polymorphisms of the COL1A1 and
COL5A1 genes with clinically diagnosed laxity and the occurrence of recurrent patellar …

The impact of generalized joint hypermobility on eating behavior of students: A case-control study

S Can, F Tuna - Journal of American College Health, 2024 - Taylor & Francis
Objective To investigate the impact of generalized joint hypermobility (GJH) on eating
behavior. Participants Physical therapy and rehabilitation students. Methods The Beighton …

Regulation of Joint Tissues and Joint Function: Is There Potential for Lessons to Be Learned Regarding Regulatory Control from Joint Hypermobility Syndromes?

DA Hart - International Journal of Molecular Sciences, 2025 - mdpi.com
Normal development of joints starts in utero with the establishment of a cellular and
extracellular matrix template. Following birth, individual joint tissues grow and mature in …

Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1

Q Hu, H Ma, J Shen, Z Zhuang, J Li, X Huang… - Frontiers in …, 2021 - frontiersin.org
Background: Waardenburg Syndrome Type 1 (WS1) is a rare hereditary disease, which is
usually caused by the mutations of PAX3 (paired box 3). Here, we reported a pedigree with …

The Health-Related Physical Fitness of University Female Students with and without Generalized Joint Hypermobility: A Case-Control Study

H Özdemir, F Tuna, DD Kabayel - Osmangazi Tıp Dergisi, 2024 - dergipark.org.tr
To evaluate the effect of generalized joint hypermobility (GJH) on health-related physical
fitness. Female university students between the ages of 18-23. Cardiorespiratory fitness …

[HTML][HTML] The mitral valve prolapse frequency in healthy females with generalized joint hypermobility: A case-control study

H Özdemir, F Tuna, M Aktoz, N Taştekin… - Archives of …, 2021 - ncbi.nlm.nih.gov
The mitral valve prolapse frequency in healthy females with generalized joint hypermobility: A
case-control study - PMC Back to Top Skip to main content NIH NLM Logo Access keys NCBI …

[PDF][PDF] Audiological differences in healthy individuals with generalized joint hypermobility: a case-control study

TAŞ Memduha, T Filiz, Ş YILMAZ - The European Research Journal, 2022 - dergipark.org.tr
Objectives: Despite the prevalence of generalized joint hypermobility (GJH), the audiological
functions of individuals with GJH have not been documented. This study aimed to …

[PDF][PDF] The Association of Collagen 1A1, 5A1 and 12A1 Gene Expression with General Joint Laxity in Athletes is Non-Significant.

ŞŞ Torğutalp, N Babayeva, Ö Özkan… - … /Turkish Journal of …, 2020 - researchgate.net
Objective: Generalized joint laxity is a connective tissue disorder, and may cause
musculoskeletal injury in athletes. The gene expression levels of type I, V, and XII collagens …