(Q34141678)

31 July 2017

1 reference

title

Williams syndrome: from genotype through to the cognitive phenotype (English)

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31 July 2017

1 reference

Donnai D

1

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31 July 2017

Karmiloff-Smith A

series ordinal

2

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31 July 2017

publication date

1 January 2000

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American Journal of Medical Genetics Part A

31 July 2017

published in

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31 July 2017

volume

97

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31 July 2017

issue

2

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31 July 2017

page(s)

164-171

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Regulation of actin dynamics through phosphorylation of cofilin by LIM-kinase

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Syntax and morphology in Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Configural and local processing of faces in children with Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Behavioral and Emotional Disturbance in Individuals With Williams Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Williams-Beuren syndrome: genes and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Phonological Short-term Memory and its Relationship to Language in Williams Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Cardiac anomalies in Williams-Beuren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

A complete physical contig and partial transcript map of the Williams syndrome critical region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Development itself is the key to understanding developmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Language and Williams syndrome: how intact is "intact"?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Elastin is an essential determinant of arterial morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Novel arterial pathology in mice and humans hemizygous for elastin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Visuospatial construction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

III. Electrophysiological studies of face processing in Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Natural history of Williams syndrome: physical characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Williams-Beuren syndrome in monozygotic twins with variable expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Cognitive modularity and genetic disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Renal findings in 40 individuals with Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Brain biochemistry in Williams syndrome: evidence for a role of the cerebellum in cognition?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Reading the windows to the soul: evidence of domain-specific sparing in Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

LIM-kinase deleted in Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

A cognitive and behavioural phenotype in williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

Supravalvular aortic stenosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C164%3A%3AAID-AJMG8%3E3.0.CO%3B2-F

10.1002/1096-8628(200022)97:2<164::AID-AJMG8>3.0.CO;2-F

21 January 2018

Identifiers

DOI

1 reference

31 July 2017

1 reference