Features of Marfan syndrome not listed in the Ghent nosology–the dark side of the disease
Y von Kodolitsch, A Demolder… - Expert review of …, 2019 - Taylor & Francis
ABSTRACT Introduction: The revised Ghent nosology presents the classical features of
Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well …
Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well …
[HTML][HTML] Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders
M Singh, SC Tyagi - International journal of ophthalmology, 2018 - ncbi.nlm.nih.gov
Past 25y have witnessed an exponential increase in knowledge and understanding of
ocular diseases and their respective genetic underpinnings. As a result, scientists have …
ocular diseases and their respective genetic underpinnings. As a result, scientists have …
Cardiovascular benefits of moderate exercise training in Marfan syndrome: insights from an animal model
A Mas‐Stachurska, AM Siegert, M Batlle… - Journal of the …, 2017 - Am Heart Assoc
Background Marfan syndrome (MF) leads to aortic root dilatation and a predisposition to
aortic dissection, mitral valve prolapse, and primary and secondary cardiomyopathy. Overall …
aortic dissection, mitral valve prolapse, and primary and secondary cardiomyopathy. Overall …
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement
Background Marfan syndrome (MFS) is a systemic connective tissue disorder with life-
threatening manifestations affecting the ascending aorta. MFS is caused by dominant …
threatening manifestations affecting the ascending aorta. MFS is caused by dominant …
Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype–phenotype correlations in improving risk stratification …
Background Marfan syndrome (MFS) is a genetically determined systemic connective tissue
disorder, caused by a mutation in the FBN1 gene. In MFS mainly the cardiovascular …
disorder, caused by a mutation in the FBN1 gene. In MFS mainly the cardiovascular …
Genome-wide methylation patterns in Marfan syndrome
MM van Andel, M Groenink, MP van den Berg… - Clinical …, 2021 - Springer
Background Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in
the Fibrillin-1 gene (FBN1). Here, we undertook the first epigenome-wide association study …
the Fibrillin-1 gene (FBN1). Here, we undertook the first epigenome-wide association study …
Increased visceral arterial tortuosity in Marfan syndrome
Background Clinical evidence suggests that the currently recommended approach to
estimate the risk of aortic dissection in Marfan syndrome (MFS) is not reliable enough …
estimate the risk of aortic dissection in Marfan syndrome (MFS) is not reliable enough …
The effects of acute and elective cardiac surgery on the anxiety traits of patients with Marfan syndrome
Background Marfan syndrome is a genetic disease, presenting with dysfunction of
connective tissues leading to lesions in the cardiovascular and skeletal muscle system …
connective tissues leading to lesions in the cardiovascular and skeletal muscle system …
[HTML][HTML] Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era
Copy number variations (CNVs) comprise about 10% of reported disease-causing mutations
in Mendelian disorders. Nevertheless, pathogenic CNVs may have been under-detected …
in Mendelian disorders. Nevertheless, pathogenic CNVs may have been under-detected …
Metabolomic Profile in the Aqueous Humor of Congenital Ectopia Lentis
L Liu, Y Li, D Guo, H Ye, H Qi, B Zou… - Current Eye …, 2023 - Taylor & Francis
Purpose To explore the metabolic profiles in the aqueous humor (AH) of patients with
congenital ectopia lentis (CEL). Methods We conducted a comprehensive analysis of the …
congenital ectopia lentis (CEL). Methods We conducted a comprehensive analysis of the …