Results 41 to 50 of about 3,631,363 (269)
Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease
Expert Review of Cardiovascular Therapy, 2019 Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.
Y. von Kodolitsch +19 more
semanticscholar +1 more source
Angiotensin receptor blockers and β-blockers in Marfan syndrome: an individual-patient-data meta-analysis of randomised trials [PDF]
, 2022 Background: Angiotensin receptor blockers (ARBs) and β blockers are widely used in the treatment of Marfan syndrome to try to reduce the rate of progressive aortic root enlargement characteristic of this condition, but their separate and joint effects ...
Spata, Enti +4 more
core +1 more source
Twenty years' follow-up of a family with Marfan syndrome: A case series
Heart Views, 2021 Marfan syndrome is a rare connective tissue disorder manifesting with cardiovascular pathologies which are also the leading cause of death. Herein, we present the past 20 years follow up of a family with 17 members afflicted with Marfan syndrome.
Niloufar Valizadeh +4 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
Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome
Global Medical Genetics, 2020 Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases.
Sinem Yalcintepe +5 more
doaj +1 more source
Marfan syndrome masked by Down syndrome? [PDF]
, 2009 Contains fulltext : 79872.pdf (Publisher’s version ) (Closed access)Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare.
Engelen, K. van +9 more
core +1 more source
Clinical Case Reports, 2017 Key Clinical Message We present the case of a newborn with co‐occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father.
Yasmin Florence Khodeja Islam +3 more
doaj +1 more source
Disease Models & Mechanisms, 2019 Fibrillin is an evolutionarily ancient protein that lends elasticity and resiliency to a variety of tissues. In humans, mutations in fibrillin-1 cause Marfan and related syndromes, conditions in which the eye is often severely affected.
Wendell Jones +2 more
semanticscholar +1 more source
Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan? [PDF]
, 2008 OBJECTIVE: Marfan syndrome is a systemic connective tissue disorder caused by mutations in the fibrillin-1 gene. It was originally believed that Marfan syndrome results exclusively from the production of abnormal fibrillin-1 that leads to structurally ...
Dietz, Harry C +8 more
core +1 more source
Science Translational Medicine, 2019 Protection from pregnancy-associated aortic dissection is achieved by decreasing oxytocin-induced ERK signaling in a mouse model of Marfan syndrome. Dissecting a risk of Marfan syndrome Marfan syndrome is an autosomal dominant connective tissue disorder ...
J. Habashi +11 more
semanticscholar +1 more source