(Q34360867)

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No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control

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Europe PubMed Central

PubMed publication ID

1 August 2017

No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Williams-Beuren syndrome

1 reference

based on heuristic

inferred from title

2

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Almuth Caliebe

0 references

5

object named as

Reiner Siebert

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

Judith Frohnauer

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Stefan Gesk

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Carl-Joachim Partsch

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Rainer Pankau

6

1 reference

Europe PubMed Central

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1 August 2017

Jutta Jenderny

7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

publication date

5 November 2010

1 reference

Europe PubMed Central

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1 August 2017

Molecular Cytogenetics

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Europe PubMed Central

PubMed publication ID

1 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

21

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

6 July 2018

Williams-Beuren syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

6 July 2018

The genomic basis of the Williams-Beuren syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

6 July 2018

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

6 July 2018

Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

6 July 2018

Mutational mechanisms of Williams-Beuren syndrome deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

6 July 2018

Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

6 July 2018

Molecular mechanisms for genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

6 July 2018

Prevalence estimation of Williams syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

6 July 2018

Familial Williams-Beuren syndrome showing varying clinical expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

6 July 2018

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

27 October 2018

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

27 October 2018

Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

27 October 2018

Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993725

27 October 2018

Williams syndrome: autosomal dominant inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/21054846

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Williams syndrome: evidence for possible autosomal dominant inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/21054846

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1755-8166-3-21

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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