(Q34756120)

4 August 2017

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Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing (English)

1 reference

4 August 2017

1 reference

Syed Hussain Askree

1

1 reference

4 August 2017

Lawrence N Hjelm

2

1 reference

4 August 2017

Muhammad Ali Pervaiz

3

1 reference

4 August 2017

Margaret Adam

4

1 reference

4 August 2017

Lora J H Bean

5

1 reference

4 August 2017

Madhuri Hedge

6

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4 August 2017

Bradford Coffee

7

1 reference

4 August 2017

publication date

23 December 2010

1 reference

The Journal of Molecular Diagnostics

4 August 2017

published in

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4 August 2017

volume

13

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4 August 2017

issue

1

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4 August 2017

page(s)

108-112

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Microarray-based mutation detection in the dystrophin gene

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

An imprinted, mammalian bicistronic transcript encodes two independent proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

Methylation-specific PCR simplifies imprinting analysis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

High sensitivity mapping of methylated cytosines

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

Detection of specific sequences among DNA fragments separated by gel electrophoresis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

Mechanisms of imprinting of the Prader-Willi/Angelman region.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069869

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21227401

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JMOLDX.2010.11.006

1 reference

4 August 2017

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4 August 2017

1 reference