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