Severe expressive-language delay related to duplication of the Williams-Beuren locus (Q24626704)

22 June 2017

title

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

1 reference

22 June 2017

12

Stephen W Scherer

1 reference

22 June 2017

11

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Carolyn B Mervis

2

object named as

Carolyn B Mervis

1 reference

22 June 2017

Martin J Somerville

1

1 reference

22 June 2017

Edwin J Young

3

1 reference

22 June 2017

Eul-Ju Seo

4

1 reference

22 June 2017

Miguel del Campo

5

1 reference

22 June 2017

Stephen Bamforth

6

1 reference

22 June 2017

Ella Peregrine

7

1 reference

22 June 2017

Wayne Loo

8

1 reference

22 June 2017

Margaret Lilley

9

1 reference

22 June 2017

Luis A Pérez-Jurado

10

1 reference

22 June 2017

Lucy R Osborne

13

1 reference

22 June 2017

language of work or name

English

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publication date

1 October 2005

1 reference

The New England Journal of Medicine

22 June 2017

number of pages

8

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

22 June 2017

volume

353

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22 June 2017

issue

16

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22 June 2017

page(s)

1694-1701

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Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

22 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

Human chromosome 7: DNA sequence and biology

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

A forkhead-domain gene is mutated in a severe speech and language disorder

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

Deciphering the genetic basis of speech and language disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

Molecular mechanisms for genomic disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

Prevalence estimation of Williams syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

Williams syndrome: cognition, personality, and adaptive behavior

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

Mutational mechanisms of Williams-Beuren syndrome deletions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893213

Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16236740

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1056/NEJMOA051962

1 reference

OpenCitations bibliographic resource ID

22 June 2017

4105306

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4105306

PMC publication ID

2893213

0 references

1 reference