Several studies support currently the hypothesis that autism etiology is based on a polygenic
and epistatic model. However, despite advances in epidemiological, molecular and clinical …

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 …

Williams syndrome has been variably termed Williams–Beuren syndrome, idiopathic
hypercalcemia, and supravalvar aortic stenosis syndrome. It is estimated to occur in …

Copy number variants (CNVs) of the Williams–Beuren syndrome (WBS) 7q11. 23 region are
responsible for neurodevelopmental disorders with multi-system involvement and variable …

Many human chromosomal abnormality syndromes include specific cognitive and
behavioural components. Children with Prader–Willi syndrome lack a paternally derived …

Genomic imbalance is a common cause of phenotypic abnormalities. We measured the
relative expression level of genes that map within the microdeletion that causes Williams …

Background Williams–Beuren syndrome (WBS) is a developmental disorder with
multisystemic manifestations mainly characterised by vascular stenoses, distinctive …

Genetic contributions to human cognition and behavior are clear but difficult to define.
Williams syndrome (WS) provides a unique model for relating single genes to visual–spatial …

The GTF2IRD1 general transcription factor is a candidate for involvement in the varied
cognitive and neurobehavioral symptoms of the microdeletion disorder, Williams–Beuren …

Background: During a genetic study of autism, a female child who met diagnostic criteria for
autism spectrum disorder, but also exhibited the cognitive–behavioural profile (CBP) …