Results 81 to 90 of about 1,555,246 (206)

A novel variant of Ehlers‐Danlos‐syndrome with COL1A2 mutation

open access: yes
Journal of the European Academy of Dermatology and Venereology, EarlyView.
Johanna Strobl, Peter Maximilian Heil
wiley   +1 more source

Keratan Sulfate: An Electroconductive Glycosaminoglycan at the Interface of Sensory Perception and Neural Signaling

open access: yesJournal of Neuroscience Research, Volume 104, Issue 8, August 2026.
Laboratory studies show KS has electroconductive properties with the ability to trap and transport protons in neurotransductive processes (Grotthuss proton shuttling). This maintains electrochemical gradients and fluxes at the neuronal cell surface in neural activation. Such processes are central to neuronal cell signaling and communication.
James Melrose
wiley   +1 more source

Vascular ehlers-danlos syndrome: a rare disorder presenting with focal convulsions [PDF]

open access: yes, 2014
Vascular Ehlers-Danlos Syndrome (VEDS), previously called Ehlers-Danlos syndrome type-IV, is a heterogeneous group of heritable connective tissue disorders characterized by thin, translucent skin, easy bruising, arterial, intestinal, and/or uterine ...
Ahmed, Shakeel   +3 more
core  

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

open access: yes, 2017
BACKGROUND: Patients with the kyphoscoliotic type of Ehlers-Danlos syndrome have an increased risk of vascular complications such as aortic dissection and perforation. Cerebral ischemia has only rarely been documented.
Martin Wiesmann   +14 more
core   +1 more source

Vascular Lesions in Ehlers–Danlos Syndrome [PDF]

open access: yesHypertension, 2013
See related article, pp 203–208 Ehlers–Danlos syndrome refers to a group of genetic disorders with connective tissue defects generated by collagen deficiency and fragility.1,2 It is classified into 6 types: classical, joint hypermobility, vascular, kyphoscoliosis, arthrochalasia, and dermatosparaxis.1 The vascular genotype affects 1 in 50 000 to 100 ...
openaire   +3 more sources

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

open access: yesPrenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo   +4 more
wiley   +1 more source

Type V and type III collagen modulate the expression and assembly of fibronectin extracellar matrix in classic and vascular Ehlers-Danlos syndrome fibroblasts, affecting cell survival and migration

open access: yes, 2012
Extracellular matrix (ECM) regulates cell proliferation, migration, survival and gene expression, via signal transduction pathways differentially activated by ECM ligands interacting with specific integrins.
ZOPPI, Nicoletta   +2 more
core  

Ehlers-Danlos syndrome with soft-tissue contractures

open access: yes, 1992
We report four patients with a form of Ehlers-Danlos syndrome associated with soft-tissue contractures from birth and skin hyperalgesia. In early infancy, these cases were thought to be forms of arthrogryposis multiplex congenita, Larsen's syndrome or ...
S Oshita   +4 more
core   +1 more source

Examining the Role of Artificial Intelligence in Assessment: A Comparative Study of ChatGPT and Educator‐Generated Multiple‐Choice Questions in a Dental Exam

open access: yesEuropean Journal of Dental Education, Volume 30, Issue 3, Page 881-895, August 2026.
ABSTRACT Aim To compare the item difficulty and discriminative index of multiple‐choice questions (MCQs) generated by ChatGPT with those created by dental educators, based on the performance of dental students in a real exam setting. Materials and Methods A total of 40 MCQs—20 generated by ChatGPT 4.0 and 20 by dental educators—were developed based on ...
Nezaket Ezgi Özer   +4 more
wiley   +1 more source

Hypermobile Ehlers–Danlos syndrome and pregnancy

open access: yes, 2018
Ehlers–Danlos syndromes are a clinically and genetically heterogeneous group of rare inherited connective tissue disorders. Hypermobile Ehlers–Danlos syndrome is one of the common types and not infrequently encountered in pregnancy.
Akilandeswari Karthikeyan   +1 more
core   +1 more source

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