(Q33682418)

English

Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome

scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

3

object named as

Baraitser M

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Borg I

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Delhanty JD

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 September 1995

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

32

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

692-696

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

describes a project that uses

fluorescence in situ hybridization

1 reference

based on heuristic

inferred from title

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051668

21 June 2018

Williams syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051668

21 June 2018

Autosomal dominant supravalvular aortic stenosis: large three-generation family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051668

21 June 2018

Natural history of Williams syndrome: physical characteristics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051668

21 June 2018

The iris in Williams syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051668

21 June 2018

Supravalvular aortic stenosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051668

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051668

30 October 2018

Metacarpophalangeal pattern profile analysis in Williams syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051668

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051668

30 October 2018

Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544187

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Williams syndrome: autosomal dominant inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544187

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

More on the prophylactic dose of fluoride

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544187

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome abnormalities and Williams syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544187

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Contractures in patients with Williams syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544187

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/8544187

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.32.9.692

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

0 references

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