(Q33961368)

30 July 2017

title

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

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30 July 2017

main subject

Williams-Beuren syndrome

1 reference

1

Stephen W Scherer

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30 July 2017

Jean-Paul Bonnefont

5

0 references

Karen Gripp

2

object named as

Karen W Gripp

1 reference

30 July 2017

Jaume Lucena

3

1 reference

30 July 2017

Linda Nicholson

4

1 reference

30 July 2017

Luis A Pérez-Jurado

6

1 reference

30 July 2017

Lucy R Osborne

7

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30 July 2017

publication date

3 June 2005

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30 July 2017

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30 July 2017

volume

117

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30 July 2017

issue

4

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30 July 2017

page(s)

383-388

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Mutational mechanisms of Williams-Beuren syndrome deletions

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896963

Prevalence estimation of Williams syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896963

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896963

Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896963

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896963

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896963

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

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15933846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-005-1325-9

1 reference

Dimensions Publication ID

30 July 2017

0 references

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30 July 2017

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