Marfan Syndrome

Marfan syndrome is an autosomal dominant disorder of connective tissue with abnormal features in the heart, the eye, and the skeleton. It is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue. Discover the latest research on Marfan syndrome here.

July 4, 2020

Enhanced Notch3 signaling contributes to pulmonary emphysema in a Murine Model of Marfan syndrome

Scientific Reports
Kathryn JespersenWanfen Xiong
June 21, 2020
Open Access

Disorders of the Aorta and Aortic Valve in Connective Tissue Diseases

Current Cardiology Reports
Bogna Grygiel-GórniakMichal Klokner
June 15, 2020

Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes

European Journal of Medical Genetics
Chureerat PhokaewVorasuk Shotelersuk
June 18, 2020

Devices for thoracic endovascular aortic repair of type B aortic dissection: is there any chance for Marfan syndrome?

Expert Review of Medical Devices
Luigi LovatoRossella Fattori
May 23, 2020

Marfan syndrome revisited: From genetics to the clinic

Revista Portuguesa De Cardiologia : Orgão Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology
Sónia Gomes Coelho, Ana G Almeida
May 12, 2020

Inherited Thoracic Aortic Disease: New Insights and Translational Targets

Alexander J FletcherNiki L Walker
May 6, 2020

An uncommon case of thunderclap headache in a patient with Marfan syndrome

Acta neurologica Belgica
Emanuele Cerulli IrelliCarlo Di Bonaventura
June 11, 2020
Open Access

Male-female differences in quality of life and coping style in patients with Marfan syndrome and hereditary thoracic aortic diseases

Journal of Genetic Counseling
Carlijn G E ThijssenRoland R J van Kimmenade
May 21, 2020
Open Access

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome

Molecular Genetics & Genomic Medicine
Fatemeh BitarafanMasoud Garshasbi
May 6, 2020
Open Access

Double-Flanged polypropylene Suture for Scleral Fixation of Cionni Capsule Tension Ring

Clinical Ophthalmology
Ahmed SamirAyman Lotfy
May 17, 2020
Comment / Editorial
Open Access

Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders

Marco Ritelli, Marina Colombi
June 5, 2020
Case Report
Open Access

Acute complicated type B aortic dissection during the New York City COVID-19 surge

Journal of Cardiac Surgery
Shinichiro IkedaBenjamin A Youdelman
May 28, 2020
Open Access

Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study

Frontiers in Genetics
Aideen M McInerney-LeoEmma Duncan
June 20, 2020

Neonatal Marfan Syndrome by Inherited Mutation

Indian Journal of Pediatrics
Gioia MastromoroPaolo Versacci
May 19, 2020

Compelling indications should be listed for individual beta-blockers (due to diversity), not for the whole class

Current Vascular Pharmacology
Goran KoracevicMilenko Paunovic
June 20, 2020
Open Access

Is the frozen elephant trunk technique justified for chronic type A aortic dissection in Marfan syndrome?

Annals of Cardiothoracic Surgery
Yu ChenLi-Zhong Sun

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