[HTML][HTML] Marfan syndrome: improved clinical history results in expanded natural history
RE Pyeritz - Genetics in Medicine, 2019 - Elsevier
Life expectancy for a person with Marfan syndrome has essentially doubled over the past
four decades. During this period, the clinical histories of the organs managed routinely have …
four decades. During this period, the clinical histories of the organs managed routinely have …
[HTML][HTML] The molecular genetics of Marfan syndrome
Q Du, D Zhang, Y Zhuang, Q **a, T Wen… - International Journal of …, 2021 - ncbi.nlm.nih.gov
Marfan syndrome (MFS) is a complex connective tissue disease that is primarily
characterized by cardiovascular, ocular and skeletal systems disorders. Despite its rarity …
characterized by cardiovascular, ocular and skeletal systems disorders. Despite its rarity …
Health‐related quality of life of COVID‐19 patients after discharge: a multicenter follow‐up study
G Qu, Q Zhen, W Wang, S Fan, Q Wu… - Journal of clinical …, 2021 - Wiley Online Library
Abstract Aims and Objectives To determine the health‐related quality of life (HRQoL) of
COVID‐19 patients after discharge and its predicting factors. Background COVID‐19 has …
COVID‐19 patients after discharge and its predicting factors. Background COVID‐19 has …
Features of Marfan syndrome not listed in the Ghent nosology–the dark side of the disease
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 …
The musculoskeletal manifestations of Marfan syndrome: diagnosis, impact, and management
Abstract Purpose of Review Marfan syndrome (MFS) is an autosomal dominant heritable
disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal …
disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal …
Marfan syndrome
DM Milewicz, AC Braverman, J De Backer… - Nature reviews Disease …, 2021 - nature.com
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant
condition with substantial intrafamilial and interfamilial variability. MFS is caused by …
condition with substantial intrafamilial and interfamilial variability. MFS is caused by …
Clinical characterization and factors associated with quality of life in Long COVID patients: Secondary data analysis from a randomized clinical trial
Background Long COVID patients suffer a negative impact on their quality of life, as well as
their functioning, productivity or socialization. There is a need to better understand the …
their functioning, productivity or socialization. There is a need to better understand the …
Marfan syndrome: enhanced diagnostic tools and follow-up management strategies
S Marelli, E Micaglio, J Taurino, P Salvi, E Rurali… - Diagnostics, 2023 - mdpi.com
Marfan syndrome (MFS) is a rare inherited autosomic disorder, which encompasses a
variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene …
variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene …
Inpatient rehabilitation for adult patients with Marfan syndrome: an observational pilot study
D Benninghoven, D Hamann, Y von Kodolitsch… - Orphanet journal of rare …, 2017 - Springer
Background Advances in medical, interventional and surgical treatment have increased
average life expectancy of patients with congenital heart defects. As a result a new group of …
average life expectancy of patients with congenital heart defects. As a result a new group of …
Health-related quality of life in children and young adults with Marfan syndrome
Objective To assess health-related quality of life (HRQOL) in a large multicenter cohort of
children and young adults with Marfan syndrome participating in the Pediatric Heart Network …
children and young adults with Marfan syndrome participating in the Pediatric Heart Network …