Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes (Q34388540)

1 August 2017

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

1 reference

1 August 2017

M Tassabehji

1

1 reference

1 August 2017

K Metcalfe

2

1 reference

1 August 2017

A Karmiloff-Smith

3

1 reference

1 August 2017

M J Carette

4

1 reference

1 August 2017

J Grant

5

1 reference

1 August 2017

N Dennis

6

1 reference

1 August 2017

W Reardon

7

1 reference

1 August 2017

M Splitt

8

1 reference

1 August 2017

A P Read

9

1 reference

1 August 2017

D Donnai

10

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 January 1999

1 reference

American Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

64

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1 August 2017

1

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1 August 2017

118-125

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Cofilin phosphorylation by LIM-kinase 1 and its role in Rac-mediated actin reorganization

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Verbal and nonverbal abilities in the Williams syndrome phenotype: evidence for diverging developmental trajectories

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Behavioral and emotional disturbance in individuals with Williams syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

LIM-kinase deleted in Williams syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Identification and characterization of a novel family of serine/threonine kinases containing two N-terminal LIM motifs

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

The 1993-94 Généthon human genetic linkage map

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Cognitive abilities and behavioural characteristics of children with idiopathic infantile hypercalcaemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Natural history of Williams syndrome: physical characteristics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

A cognitive and behavioural phenotype in williams syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377709

Specific eating and sleeping problems in Prader-Willi and Williams-Beuren syndrome

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9915950

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9915950

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302214

1 reference

1 August 2017

1 reference

1 August 2017

1 reference