Notch signaling is an evolutionarily highly conserved signaling mechanism, but in contrast to
signaling pathways such as Wnt, Sonic Hedgehog, and BMP/TGF-β, Notch signaling occurs …

Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal
models and humans have indicated a genetic etiology for CHD. About 400 genes have been …

Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is
indicated by an increased recurrence risk,, sporadic occurrence suggests that CHD genetics …

Rationale: Familial recurrence studies provide strong evidence for a genetic component to
the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common …

Notch pathway is an evolutionarily conserved signalling system that operates to influence an
astonishing array of cell fate decisions in different developmental contexts. Notch signalling …

Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …

Objective Array comparative genomic hybridization (aCGH) is a molecular cytogenetic
technique that is able to detect the presence of copy number variants (CNVs) within the …

Hypoplastic left heart syndrome (HLHS) is characterized by underdevelopment of left sided
structures including the ventricle, valves, and aorta. Prevailing paradigm suggests that …

Purpose: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1
mutations in left-sided congenital heart disease (LS-CHD). LS-CHD includes aortic valve …

Bicuspid aortic valve (BAV) is the most common congenital heart defect. Although many BAV
patients remain asymptomatic, at least 20% develop thoracic aortic aneurysm (TAA) …