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

Loeys–Dietz syndrome: a primer for diagnosis and management

(2014) Gretchen MacCarrick et al.   GENETICS IN MEDICINE

Thoracic Aortic Aneurysm in Infancy in Aneurysms-Osteoarthritis Syndrome Due to a NovelSMAD3Mutation: Further Delineation of the Phenotype

(2013) Anita Wischmeijer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with aTGFBR1orTGFBR2mutation

(2013) S. Sheikhzadeh et al.   CLINICAL GENETICS

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

Prevalence of Dural Ectasia in Loeys-Dietz Syndrome: Comparison with Marfan Syndrome and Normal Controls

(2013) Atsushi K. Kono et al.   PLoS One

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

The paradoxical TGF-β vasculopathies

(2012) Rosemary J. Akhurst   NATURE GENETICS

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

Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections

(2011) Li Wang et al.   AMERICAN JOURNAL OF HUMAN 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

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

(2011) Ingrid M B H van de Laar et al.   JOURNAL OF MEDICAL GENETICS

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

The Loeys–Dietz syndrome: an update for the clinician

(2010) Christine Van Hemelrijk et al.   CURRENT OPINION IN CARDIOLOGY

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1

(2009) V.J. Rodrigues et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

The regulation of TGF  signal transduction

(2009) A. Moustakas et al.   DEVELOPMENT