Results 81 to 90 of about 1,246,443 (148)

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency [PDF]

, 2020
openaire   +1 more source

A new variant of Ehlers-Danlos syndrome with inborn errors of mucopolysaccharide metabolism in the mother and son

, 2014
A new variant of Ehlers-Danlos syndrome has been diagnosed in the mother and son with the phenotype associated with metabolism errors of mucopolysaccharides, hypermobility of joints, hepatosplenomegaly, an early common varicose disease, muscular ...
Grechanina, Juliya, Bugaeva, Olena, Grechanina, Elena   +2 more
core  

Pregnancy outcome in patients with Ehlers-Danlos Syndrome after cervical cerclage.

Dear Editor, We read with interest the Ehlers-Danlos Syndrome in Pregnancy review paper suggesting limited guidelines regarding the optimal management of EDS pregnant women.
Hubinont, Corinne, Bruyns, Léna, Colson, Arthur, Debiève, Frédéric, Ryckoort, Vanessa, Steenhaut, Patricia   +5 more
core   +1 more source

Ehlers–Danlos Syndrome Association with Nondilated Cardiomyopathy

Ehlers–Danlos syndrome (EDS), a genetically inherited collagen defect, results in altered function of different organs such as joint hyper-mobility and skin laxity.
Sepideh Taghavi, Amirali Soheili, Mahdis Ofoghi   +2 more
core   +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

, 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, RITELLI, Marco Giuseppe, COLOMBI, Marina   +2 more
core  

Ophthalmic Implications of Ehlers-Danlos Syndrome. [PDF]

Clin Ophthalmol
Zhang KR, Zhang X, Xu K, Kojima J, Anderson BD, Dunaief JL, Armenti ST.   +6 more
europepmc   +1 more source

Ehlers-Danlos syndrome, an underreported consideration in plastic surgery: A narrative review of cases. [PDF]

JPRAS Open
Brown CD, Hickman SJ, Mortell T, Chandawarkar SK, Cho S, Nazerali R.   +5 more
europepmc   +1 more source

Clinical Variability of Classical Ehlers-Danlos Syndrome: A Family with Rare <i>COL5A1</i> Variant and Case-Based Review. [PDF]

Int J Mol Sci
Akhiiarova KE, Loginova EN, Kildiyarova RR, Khusainova RI, Tyurin AV.   +4 more
europepmc   +1 more source

Hereditary connective tissue disorders in unselected patients with spontaneous cervical artery dissection: a targeted next generation sequencing approach and systematic review. [PDF]

Neurol Sci
Corradi L, Ferraro C, Tesi F, Abrignani G, Castellini P, Latte L, Trapasso MC, Genovese A, Ritelli MG, Cinquina V, Giliani SC, Magoni M, Menozzi R, Pezzini A.   +13 more
europepmc   +1 more source

Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type.

Human genetics, 2009
Giunta, Cecilia, Bürer-Chambaz, Céline, Steinmann, Beat   +2 more
openaire   +2 more sources