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Publications

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Ellen S. Regalado, et al., Comparative Risks of Initial Aortic Events Associated with Genetic Thoracic Aortic Disease.

Milewicz DM et al., Marfan syndrome.

Murad AM et al., Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility.

Kaw A et al., Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.

Damrauer SM et al.; FBN1 Coding Variants and Nonsyndromic Aortic Disease.

Wallace SE et al.; MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.

Shalhub S et al.; The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln).

Hostetler EM et al.; SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.

Lauer A, et al.;Cerebrovascular disease progression in patients with ACTA2 Arg179 Pathogenic Variants.

Regalado et al.; Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.

Jondeau et al.; TGFBR1, TGFBR2: The Montalcino Aortic Consortium. International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the Montalcino Aortic Consortium 

Guo. D C et al.; LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections 

Kuang, S et al.; FOXE3 mutations predispose to thoracic aorticaneurysms and dissections 

Bradley, T et al.; The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable ThoracicAortic Aneurysm and Dissection

CONFERENCE ABSTRACT: MAC DATA PRESENTED AT 2015 AHA SCIENTIFIC SESSIONS – REPOSTED FROM CIRCULATION: Factors associated with aortic dissection in patients with TGFBR1 or TGFBR2 mutations: Results from the Montalcino Aortic Consortium

Regalado et al.; Aortic Disease Presentation and Outcome Associated with ACTA2 Mutations

Guo et al.; MAT2A mutations predispose individuals to thoracic aortic aneurysms.

Loeys-Dietz syndrome: a primer for diagnosis and management

Jondeau G. et al., Familial thoracic aortic aneurysm

Response to Pyeritz et al. 

Pyeritz RE et al., Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling. 

Pyeritz RE., Heritable Thoracic Aortic Disorders