Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

Severe eczema and Hyper-IgE in Loeys–Dietz-syndrome — Contribution to new findings of immune dysregulation in connective tissue disorders

(2013) Kerstin Felgentreff et al.   CLINICAL IMMUNOLOGY

TGF  Receptor Mutations Impose a Strong Predisposition for Human Allergic Disease

(2013) P. A. Frischmeyer-Guerrerio et al.   Science Translational Medicine

Dendritic Cell-Specific Disruption of TGF-  Receptor II Leads to Altered Regulatory T Cell Phenotype and Spontaneous Multiorgan Autoimmunity

(2012) R. Ramalingam et al.   JOURNAL OF IMMUNOLOGY

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

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

TGF-β Signaling Specifies Axons during Brain Development

(2010) Jason J. Yi et al.   CELL

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

The revised Ghent nosology for the Marfan syndrome

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