Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients

Transforming Growth Factor-  and Inflammation in Vascular (Type IV) Ehlers-Danlos Syndrome

(2014) R. Morissette et al.   Circulation-Cardiovascular Genetics

Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes

(2014) Sherene Shalhub et al.   JOURNAL OF VASCULAR SURGERY

The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)

(2014) Jordan P. Lerner-Ellis et al.   MOLECULAR GENETICS AND METABOLISM

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

(2013) Dong-chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heritable thoracic aortic disorders

(2013) Reed E. Pyeritz   CURRENT OPINION IN CARDIOLOGY

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations

(2012) P. Munot et al.   BRAIN

Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants

(2012) Denise van der Linde et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms

(2012) Denise van der Linde et al.   JOURNAL OF VASCULAR SURGERY

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

Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections

(2011) Eduardo J. Mortani Barbosa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Correlates of Delayed Recognition and Treatment of Acute Type A Aortic Dissection

(2011) Kevin M. Harris et al.   CIRCULATION

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

Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities

(2011) DO Robinson et al.   CLINICAL GENETICS

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

(2011) Sabine Hoffjan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

(2011) Dru F. Leistritz et al.   GENETICS IN MEDICINE

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

(2011) Machteld Baetens et al.   HUMAN MUTATION

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

(2011) Marjolijn Renard et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

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

Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections

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

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

(2010) Dianna M. Milewicz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease

(2010) et al.   CIRCULATION

The revised Ghent nosology for the Marfan syndrome

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

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

(2009) Dong-Chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection of 53FBN1mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

(2009) C.L.S. Turner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation ofACTA2gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD)

(2009) Hiroko Morisaki et al.   HUMAN MUTATION