A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes (Q33680844)

28 July 2017

title

A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes (English)

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28 July 2017

Chotai KA

1

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28 July 2017

Payne SJ

series ordinal

2

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28 July 2017

language of work or name

English

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publication date

1 June 1998

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

35

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28 July 2017

issue

6

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28 July 2017

page(s)

472-475

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Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method

28 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=1051341

Methylation-specific PCR simplifies imprinting analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051341

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051341

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051341

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051341

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051341

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051341

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051341

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051341

Maternal origin of deletion 15q11–13 in 25/25 cases of Angelman syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051341

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051341

Uniparental paternal disomy in Angelman's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051341

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051341

A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus

30 October 2018

1 reference

12 December 2020

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

1 reference

12 December 2020

Functional imprinting and epigenetic modification of the human SNRPN gene

1 reference

12 December 2020

Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood

1 reference

12 December 2020

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.6.472

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28 July 2017

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28 July 2017

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