(Q51954143)

18 April 2018

title

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms. (English)

1 reference

18 April 2018

main subject

Williams-Beuren syndrome

1 reference

6

Stephen W Scherer

1 reference

18 April 2018

3

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author name string

Elaine Tam

1

1 reference

18 April 2018

Edwin J Young

2

1 reference

18 April 2018

Christian R Marshall

4

1 reference

18 April 2018

Wayne Loo

5

1 reference

18 April 2018

Carolyn B Mervis

7

1 reference

18 April 2018

Lucy R Osborne

8

1 reference

18 April 2018

language of work or name

English

0 references

publication date

1 July 2008

1 reference

18 April 2018

American Journal of Medical Genetics

published in

1 reference

18 April 2018

volume

146A

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18 April 2018

issue

14

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18 April 2018

page(s)

1797-1806

1 reference

18 April 2018

Detailed analysis of 22q11.2 with a high density MLPA probe set

cites work

1 reference

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Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.

22 May 2018

1 reference

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Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Williams Syndrome: development of a new scoring system for clinical diagnosis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Language and communicative development in Williams syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

New height, weight and head circumference charts for British children with Williams syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

A comprehensive analysis of common copy-number variations in the human genome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Discriminating power of localized three-dimensional facial morphology

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Severe expressive-language delay related to duplication of the Williams-Beuren locus

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Homozygous deletions and chromosome amplifications in human lung carcinomas revealed by single nucleotide polymorphism array analysis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Microduplication and triplication of 22q11.2: a highly variable syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Detection of large-scale variation in the human genome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Mutational mechanisms of Williams-Beuren syndrome deletions

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Human chromosome 7: DNA sequence and biology

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Model-based analysis of oligonucleotide arrays: expression index computation and outlier detection

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Williams syndrome: cognition, personality, and adaptive behavior

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Natural history of Williams syndrome: physical characteristics

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

Distinctive Personality Characteristics of 8-, 9-, and 10-Year-Olds With Williams Syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2886033

The Williams syndrome cognitive profile

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18553513

12 December 2020

inferred from PubMed ID database lookup

Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18553513

12 December 2020

inferred from PubMed ID database lookup

Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18553513

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1002/AJMG.A.32360

1 reference

18 April 2018

release_ukw7mxidvvcwlb4krtsuckfafu

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ukw7mxidvvcwlb4krtsuckfafu

24 November 2022

mapped directly with Wikidata item

PMC publication ID

2886033

1 reference

18 April 2018

PubMed publication ID

18553513

1 reference

18 April 2018