Results 111 to 120 of about 1,555,246 (206)

A Cellular and Genetic Approach to Ehlers-Danlos Syndrome [PDF]

This paper serves as an in-depth exploration of a rare genetic disorder, Ehlers-Danlos Syndrome, discussing its genetic basis and pathology, as well as offers a unique perspective from those who are afflicted by it.
Pruitt, Parker
core  

Vascular Ehlers–Danlos syndrome [PDF]

Nature Reviews Cardiology, 2010
openaire   +1 more source

Vascular Ehlers‐Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report)

Clinical Case Reports
Key Clinical Message Patients with null variants may have milder vascular Ehlers‐Danlos syndrome, presenting with seemingly non‐specific complaints and subtle cutaneous features that may be missed.
Shreenidhi Ranganatha Subramaniam, Lam Fung Yeung, L. Y. Lois Choy, Jeffrey Sung Shing Kwok   +3 more
doaj   +1 more source

Ehlers-Danlos syndrome associated with acute pancreatitis [PDF]

, 1989
The Ehlers-Danlos syndrome is a polysystemic inherited connective tissue disease characterized by articular laxity, hyperelastic skin, a tendency to excessive bleeding in the presence of minimal trauma, and friability of different tissues.
Jimenez,, Sarra-Carbonell,
core  

Investigation into the Ehlers-Danlos syndrome [PDF]

, 1954
Since the 17th century there has been a certain confusion in diagnosis of what is now called the Ehlers-Danlos syndrome. In 1682 Meekrin described the case of a Spaniard who could make his skin stretch to an enormous extent, and appears to have confused ...
Mories, Alexander
core  

Vascular Ehlers-Danlos syndrome [PDF]

, 2020
openaire   +1 more source

Vascular Ehlers-Danlos Syndrome Diagnosed after Cerebral Infarction with a Subarachnoid Hemorrhage. [PDF]

Intern Med
Yamaguchi T, Ikawa M, Ikeda K, Katsuki A, Ueno A, Nishiyama Y.   +5 more
europepmc   +1 more source

Stress cardiomyopathy in vascular Ehlers-Danlos syndrome: first case report and proposed mechanisms. [PDF]

ESC Heart Fail
Che X, Wang Z, Tang X, Zhang C, Wang W, Chen Q, Zhou Y.   +6 more
europepmc   +1 more source

Steroid hormone antagonism affords vascular protection in a mouse model of vascular Ehlers-Danlos syndrome. [PDF]

JCI Insight
Juzwiak EE, Bowen CJ, Edwards R, Restrepo L, Lee S, Parks CA, Zeng A, Black MM, Reyes Gaido OE, Bramel EE, Shigaki DT, Beer MA, Bellini C, Dietz HC, Gallo MacFarlane E.   +14 more
europepmc   +1 more source

Lipodermatosclerosis-like clinical presentation with PXE-like histopathology in a patient with newly diagnosed vascular Ehlers-Danlos syndrome. [PDF]

JAAD Case Rep
Graham O, Singh K, Chow P, Khanna U.
europepmc   +1 more source