Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

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

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

(2010) Laurence Faivre et al.   European Journal of Medical Genetics

Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome

(2010) Jeroen Breckpot et al.   European Journal of Medical Genetics

The revised Ghent nosology for the Marfan syndrome

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

Cellular and molecular mechanisms of thoracic aortic aneurysms

(2009) Ismail El-Hamamsy et al.   Nature Reviews Cardiology

Severe Marfan syndrome due to FBN1 exon deletions

(2008) Moira Blyth et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Craniosynostosis in a patient with a de novo 15q15-q22 deletion

(2008) Yoko Hiraki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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