ELN gene triplication responsible for familial supravalvular aortic aneurysm

Supravalvular Aortic Stenosis

(2012) Giuseppe Merla et al.   Circulation-Cardiovascular Genetics

What can we learn from old microdeletion syndromes using array-CGH screening?

(2011) A L Mosca-Boidron et al.   CLINICAL GENETICS

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

(2011) Bert Callewaert et al.   HUMAN MUTATION

Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections

(2011) Shao-Qing Kuang et al.   PLoS Genetics

Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections

(2010) Siddharth K. Prakash et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death

(2010) André Jakob et al.   CARDIOLOGY IN THE YOUNG

Copy number variants at Williams–Beuren syndrome 7q11.23 region

(2010) Giuseppe Merla et al.   HUMAN GENETICS

Regulation of Vascular Endothelial Growth Factor-induced Endothelial Cell Migration by LIM Kinase 1-mediated Phosphorylation of Annexin 1

(2010) Maxime C. Côté et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

(2009) Lucia Micale et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

(2009) G. Beunders et al.   JOURNAL OF MEDICAL GENETICS

Cardiac Catheterization and Operative Outcomes from a Multicenter Consortium for Children with Williams Syndrome

(2008) Phat P. Pham et al.   PEDIATRIC CARDIOLOGY