Williams Syndrome

Known as: Supravalvar Aortic Stenosis Syndrome, Syndrome, Williams-Beuren, Stenoses, Hypercalcemia-Supravalvar Aortic 
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1937-2018
010020019372017

Papers overview

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Highly Cited
2011
Highly Cited
2011
We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families… (More)
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Highly Cited
2005
Highly Cited
2005
We identified and mapped an anatomically localized failure of cortical maturation in Williams syndrome (WS), a genetic condition… (More)
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Highly Cited
2000
Highly Cited
2000
Williams syndrome is a rare neurodevelopmental disorder caused by a hemizygous deletion of approximately 1.5 megabases on… (More)
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Highly Cited
2000
Highly Cited
2000
Studies of abnormal populations provide a rare opportunity for examining relationships between cognition, genotype and brain… (More)
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Highly Cited
2000
Highly Cited
2000
In this paper we argue that there are two distinct components of a theory of mind: a social-cognitive and a social-perceptual… (More)
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Highly Cited
1997
Highly Cited
1997
Williams' syndrome (WS) is a rare, genetically based disorder of cognitive development. Affected individuals show a severe… (More)
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Highly Cited
1993
Highly Cited
1993
Williams syndrome (WS) is a developmental disorder affecting connective tissue and the central nervous system. A common feature… (More)
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Highly Cited
1991
Highly Cited
1991
Comparisons between children with Williams syndrome and control group children matched for age, sex, social class, and verbal… (More)
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Highly Cited
1990
Highly Cited
1990
The general aim of our research is to understand the brain mechanisms that underlie language and cognition. In this paper, we… (More)
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Highly Cited
1988
Highly Cited
1988
The natural history of Williams syndrome, including medical complications, growth patterns, and problems in adulthood, was… (More)
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