Hypermobile Ehlers–Danlos syndrome (aka Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural …

B Tinkle, M Castori, B Berglund… - American Journal of …, 2017 - Wiley Online Library
The hypermobile type of Ehlers–Danlos syndrome (hEDS) is likely the most common
hereditary disorder of connective tissue. It has been described largely in those with …

The 2017 international classification of the Ehlers–Danlos syndromes

F Malfait, C Francomano, P Byers… - American Journal of …, 2017 - Wiley Online Library
The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group
of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin …

Anti B cell therapy (rituximab) in the treatment of autoimmune diseases

H Kazkaz, D Isenberg - Current Opinion in Pharmacology, 2004 - Elsevier
B cells play an important role in the pathogenesis of many autoimmune diseases. Selective
targeting of these cells has been recently achieved using a chimeric monoclonal antibody …

[HTML][HTML] Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

RA Weerakkody, J Vandrovcova, C Kanonidou… - Genetics in …, 2016 - nature.com
Purpose: Ehlers–Danlos syndrome (EDS) comprises a group of overlapping hereditary
disorders of connective tissue with significant morbidity and mortality, including major …

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

C Green, N Ghali, R Akilapa, C Angwin, D Baker… - Genetics in …, 2020 - nature.com
Purpose Currently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency
have been reported in the literature. We report on the clinical and molecular characteristics …

The rheumatological heritable disorders of connective tissue

H Kazkaz, R Grahame - Medicine, 2018 - Elsevier
The genetically determined rheumatological connective tissue disorders constitute a group
of phenotypically related inherited conditions caused by aberrations in genes encoding for …

Arterial complications in classical Ehlers-Danlos syndrome: a case series

C Angwin, AF Brady, FM Pope… - Journal of Medical …, 2020 - jmg.bmj.com
Background The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders
with several recognised types. Patients with a type of EDS have connective tissue …

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

AM Vandersteen, RA Weerakkody, DA Parry… - Journal of Medical …, 2024 - jmg.bmj.com
Background The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective
tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for …

[HTML][HTML] Stress urinary incontinence as the presenting complaint of benign joint hypermobility syndrome

MD Smith, M Hussain, JH Seth, H Kazkaz… - JRSM Short …, 2012 - journals.sagepub.com
Discussion The case highlights an unusual presentation of a condition that is highly
prevalent but under-diagnosed. 3 Stress incontinence in a nulliparous woman is an unusual …

[HTML][HTML] The Spider; a multisystemic symptom impact tool for people with hypermobility related disorders. Initial validation in adolescents

E Ewer, H Kazkaz, N Ninis, P Rowe, R De Pauw… - The Journal of Pediatrics …, 2024 - Elsevier
Objectives The multisystemic comorbid symptoms/conditions of hypermobility spectrum
disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) often significantly affect …