Results 151 to 160 of about 1,555,246 (206)

Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood. [PDF]

Eur J Hum Genet
Wilkinson NR, Cervi E, Wagner B, Morris-Rosendahl D, Baker D, Flora H, von Klemperer K, Andrew T, Ghali N, van Dijk FS.   +9 more
europepmc   +1 more source

Clinical evaluation of 80 Ehlers-Danlos syndrome hypermobility type patients

, 2012
Colombi M., Calzavara-Pinton P, Venturini M, Ritelli M, Dordoni C, Vascellaro A, Chiarelli N   +6 more
core  

Surviving the storm: A 6-year journey with bowel perforations and aneurysms in vascular Ehlers-Danlos syndrome - A case report. [PDF]

Int J Surg Case Rep
Habib FA, Osseis M, Chebly A, El Feghali E, Noun R.   +4 more
europepmc   +1 more source

The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome. [PDF]

Cell Death Discov
Omar R, Lee MA, Gonzalez-Trueba L, Thomson CR, Hansen U, Lianos S, Hazarika S, El Abdallah OH, Ammar MA, Cassels J, Michie AM, Bulleid NJ, Malfait F, Van Agtmael T.   +13 more
europepmc   +1 more source

Coexistence of Vascular Ehlers-Danlos Syndrome and Sticky Platelet Syndrome: A Lethal Combination in A Young Patient with Thrombophilia and Haemorrhagic Diathesis. [PDF]

Eur J Case Rep Intern Med
De Miguel-Escribano M, Garrido-Montes M, Astudillo-Ortega P, Pertusa-Mataix R, Rodríguez-Trigueros A, Corchero-Gijón J, Garcia-Morillo JS.   +6 more
europepmc   +1 more source

Functional benefit of joint surgery in patients with non-vascular Ehlers-Danlos syndrome: results of a retrospective study. [PDF]

Orphanet J Rare Dis
Abihssira S, Benistan K, Nourissat G.
europepmc   +1 more source

Internal carotid artery dissection associated with an elongated hyoid bone in a patient with vascular Ehlers-Danlos syndrome. [PDF]

BMJ Case Rep
González Villaman CM, Domínguez Quiñónez R, Castillo Espinal L.   +2 more
europepmc   +1 more source

Is Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers-Danlos Syndrome with Mutations in COL3A1 Exon 10 or 15? [PDF]

Int J Mol Sci
Utama S, Cale JM, Mitrpant C, Fletcher S, Wilton SD, Aung-Htut MT.   +5 more
europepmc   +1 more source

Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts. [PDF]

Biomedicines
Chiarelli N, Cinquina V, Zoppi N, Bertini V, Maddaluno M, De Leonibus C, Settembre C, Venturini M, Colombi M, Ritelli M.   +9 more
europepmc   +1 more source