Novel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to <i>FBN1</i> Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling. [PDF]
Beers B, Wexler H, MacCarrick G.
europepmc +1 more source
Establishment of an Advanced In Vitro Model for Pseudoexfoliation Syndrome and Glaucoma. [PDF]
Pulasani S +8 more
europepmc +1 more source
The stromal microenvironment of ovary: a novel area in polycystic ovary syndrome. [PDF]
Wang H, Zhou H, Liu Z, Zhao T, Zhang C.
europepmc +1 more source
Ocular Involvement in a Pediatric Patient with Geleophysic Dysplasia. [PDF]
Wójcik-Niklewska B +3 more
europepmc +1 more source
A Review on the Role of DNA Methylation in Aortic Disease Associated With Marfan Syndrome. [PDF]
Zhang WZ, Wu CY, Lai H.
europepmc +1 more source
Corneal characteristics in children with Marfan syndrome with or without ectopia lentis. [PDF]
O'Brien M, Tychsen L.
europepmc +1 more source
Embryological Divergence and Molecular Mechanisms in Thoracic and Abdominal Aortic Aneurysms: Bridging Developmental Biology and Clinical Insights. [PDF]
Van Hemelrijck M +5 more
europepmc +1 more source
Role of Angiotensin Receptor Blockers on Cardiovascular Protection in Marfan Syndrome: A Literature Review. [PDF]
Siraj HM +9 more
europepmc +1 more source
Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development
The extracellular glycoproteins fibrillin-1 and fibrillin-2 are major components of connective tissue microfibrils. Mutations in the fibrillin-1 and fibrillin-2 genes are responsible for the phenotypical manifestations of Marfan syndrome and congenital contractural arachnodactyly respectively, which emphasizes their essential roles in developmental ...
Fabio Quondamatteo +2 more
exaly +5 more sources

