Large artery stiffness, as measured by pulse wave velocity, is correlated with high blood
pressure and may be a causative factor in essential hypertension. The extracellular matrix …

Elastic fibres are an important component of the extracellular matrix and are made of two
major components: the more abundant cross‐linked elastic protein elastin and the multi …

Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as
1: 7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at …

To identify genes important for human cognitive development, we studied Williams
syndrome (WS), a developmental disorder that includes poor visuospatial constructive …

Obstructive vascular disease is an important health problem in the industrialized world.
Through a series of molecular genetic studies, we demonstrated that loss-of-function …

Williams syndrome (WMS) is a rare sporadic disorder that yields a distinctive profile of
medical, cognitive, neurophysiological, neuroanatomical and genetic characteristics. The …

Supravalvular aortic stenosis (SVAS) is an inherited obstructive vascular disease that affects
the aorta, carotid, coronary and pulmonary arteries. Previous molecular genetic data have …

Williams syndrome (WMS) is a most compelling model of human cognition, of human
genome organization, and of evolution. Due to a deletion in chromosome band 7q11. 23 …

Three clinical conditions displaying phenotypic overlap have been linked to mutation or
deletion of the elastin gene at 7q11. 23. Supravalvar aortic stenosis, an autosomal dominant …

Williams syndrome (WS) is a developmental disorder with variable phenotypic expression
associated, in most cases, with a hemizygous deletion of part of chromosomal band 7q11 …