Results 31 to 40 of about 30,022 (221)
Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome [PDF]
, 2019 Background: Marfan syndrome (MFS) is an inherited connective tissue disorder characterized by ectopia lentis, aortic root dilation and dissection and specific skeletal features.
Bauters, Fré +8 more
core +1 more source
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +3 more sources
Orthodontic Perspective on Marfan Syndrome: A Unique Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2023 Marfan syndrome is considered a relatively rare genetic disorder that affects the connective tissues in the body. It is caused by a specific mutation in the Fibrillin 1 (FBN1) gene, which is a critical component of microfibrils.
Shiladitya Sil +3 more
doaj +1 more source
Biomechanical and biochemical properties of the thoracic aorta in warmblood horses, Friesian horses, and Friesians with aortic rupture [PDF]
, 2015 Background: Thoracic aortic rupture and aortopulmonary fistulation are rare conditions in horses. It mainly affects Friesian horses. Intrinsic differences in biomechanical properties of the aortic wall might predispose this breed.
Chiers, Koen +10 more
core +2 more sources
No beneficial effect of general and specific anti-inflammatory therapies on aortic dilatation in Marfan mice. [PDF]
PLoS ONE, 2014 AIMS:Patients with Marfan syndrome have an increased risk of life-threatening aortic complications, mostly preceded by aortic dilatation. In the FBN1(C1039G/+) Marfan mouse model, losartan decreases aortic root dilatation.
Romy Franken +8 more
doaj +1 more source
Proteomic analysis of the bovine and human ciliary zonule [PDF]
, 2016 PURPOSE: The zonule of Zinn (ciliary zonule) is a system of fibers that centers the crystalline lens on the optical axis of the eye. Mutations in zonule components underlie syndromic conditions associated with a broad range of ocular pathologies ...
Bassnett, Steven +3 more
core +2 more sources
Diagnosis and Management of Marfan Syndrome
Majalah Kardiologi Indonesia, 2014 Background: Marfan syndrome is an autosomal dominant disorder of connective tissue, involving cardiovascular, ocular, skeletal and skin, pulmonary, and dura mater.
Andi Mahavira, Bambang B Siswanto
doaj +1 more source
High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations
Scientific Reports, 2018 Mutations in the TGFβR2 gene have been associated with a life threatening risk of aortic dissection but no arrhythmic death has been previously reported.
F. Extramiana +16 more
doaj +1 more source
Stem Cell Research, 2021 Variants in FBN1 are associated with Marfan Syndrome, an autosomal dominant disorder with clinical features that involve the musculoskeletal, cardiovascular and ocular systems. We generated a human iPSC line QDMHi001-A from a patient with Marfan syndrome
Suihan Wu +3 more
doaj +1 more source
BMC Oral Health, 2019 Background Aim of the study was to evaluate the gelatinolytic activity in the saliva and gingival crevicular fluid from a sample group of subjects with Marfan syndrome. Methods Two groups were analyzed in this case-control study.
Giuseppina Laganà +5 more
doaj +1 more source