Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

(2015) Michael Frank et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

(2014) Marco Ritelli et al.   BMC Medical Genetics

Loeys–Dietz syndrome: a primer for diagnosis and management

(2014) Gretchen MacCarrick et al.   GENETICS IN MEDICINE

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm

(2013) Ruth Leutermann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2

(2012) Marjolijn Renard et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

(2012) Mark E Lindsay et al.   NATURE GENETICS

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

(2012) Catherine Boileau et al.   NATURE GENETICS

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms

(2011) Ellen S. Regalado et al.   CIRCULATION RESEARCH

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

(2011) Ingrid M B H van de Laar et al.   NATURE GENETICS

Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections

(2010) Li Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Signaling by members of the TGF-β family in vascular morphogenesis and disease

(2010) Evangelia Pardali et al.   TRENDS IN CELL BIOLOGY

Genetic Basis of Thoracic Aortic Aneurysms and Dissections: Focus on Smooth Muscle Cell Contractile Dysfunction

(2008) Dianna M. Milewicz et al.   Annual Review of Genomics and Human Genetics