(Q35264833)

7 August 2017

Williams syndrome: an update on clinical and molecular aspects (English)

1 reference

7 August 2017

Metcalfe K

1

1 reference

PubMed ID

10451389

7 August 2017

language of work or name

English

0 references

publication date

1 September 1999

1 reference

Archives of Disease in Childhood

7 August 2017

1 reference

7 August 2017

81

1 reference

7 August 2017

3

1 reference

7 August 2017

198-200

1 reference

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

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

A novel human gene, WSTF, is deleted in Williams syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

A novel human gene FKBP6 is deleted in Williams syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

LIM-kinase deleted in Williams syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

Idiopathic infantile hypercalcaemia--a continuing enigma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

A cognitive and behavioural phenotype in williams syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

THE SYNDROME OF SUPRAVALVULAR AORTIC STENOSIS, PERIPHERAL PULMONARY STENOSIS, MENTAL RETARDATION AND SIMILAR FACIAL APPEARANCE.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

Supravalvular aortic stenosis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

Independence and adaptive behavior in adults with Williams syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

Specific neurobehavioral profile of Williams' syndrome is associated with neocerebellar hemispheric preservation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718081

The Williams syndrome: evidence for possible autosomal dominant inheritance

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10451389

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Williams syndrome: autosomal dominant inheritance

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10451389

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10451389

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/ADC.81.3.198

1 reference

7 August 2017

1 reference

7 August 2017

1 reference

PubMed ID

10451389