Marfan Syndrome
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Subject Areas on Research
- A 38 base pair insertion in the pro alpha 2(I) collagen gene of a patient with Marfan syndrome.
- A Novel Murine Model of Marfan Syndrome Accelerates Aortopathy and Cardiomyopathy.
- A second locus for familial high myopia maps to chromosome 12q.
- Accelerated Marfan syndrome model recapitulates established signaling pathways.
- Acute aortic dissection presenting as rupture of the femoral artery.
- Aortic valvular disease. Comparison of types and their medical and surgical management.
- Completing the puzzle: The search for pieces in the understanding of psychosis risk in 22q11.2 deletion syndrome.
- Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
- Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.
- Dural ectasia: a likely cause of inadequate spinal anaesthesia in two parturients with Marfan's syndrome.
- Echocardiographic methods, quality review, and measurement accuracy in a randomized multicenter clinical trial of Marfan syndrome.
- Evidence that a locus for familial high myopia maps to chromosome 18p.
- Growth-friendly Spinal Instrumentation in Marfan Syndrome Achieves Sustained Gains in Thoracic Height Amidst High Rates of Implant Failure.
- Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome.
- High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.
- Hypotony caused by scleral buckle erosion in Marfan syndrome.
- Indications for ascending aortic replacement size alone is not enough.
- Influence of Aortic Stiffness on Aortic-Root Growth Rate and Outcome in Patients With the Marfan Syndrome.
- Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
- Ophthalmic genetics/inherited eye disease.
- Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome.
- Prognostic role of transesophageal echocardiography in acute type A aortic dissection.
- Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome.
- Rheumatic heart disease and other valvular disorders in women.
- The Ehlers-Danlos syndromes and Marfan syndrome: inherited diseases of connective tissue with overlapping clinical features.
- The role of β-arrestin2-dependent signaling in thoracic aortic aneurysm formation in a murine model of Marfan syndrome.
- Two-stage total cardioaortic replacement for end-stage heart and aortic disease in Marfan syndrome: case report and review of the literature.
- Urinary Anomalies in 22q11.2 Deletion (DiGeorge syndrome): From Copy Number Variations to Single-Gene Determinants of Phenotype.
- Valvular Disease in Marfan Syndrome: Surgical Considerations and Management.
- Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome.
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Keywords of People
- Milano, Carmelo Alessio, Professor of Surgery, Surgery, Cardiovascular and Thoracic Surgery