Allelic Dropout Can Cause False-Positive Results for Prader-Willi and Angelman Syndrome Testing (Q34756120)

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scientific article published on December 23, 2010

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English	Allelic Dropout Can Cause False-Positive Results for Prader-Willi and Angelman Syndrome Testing	scientific article published on December 23, 2010

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scholarly article

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Europe PubMed Central

PubMed publication ID

21227401

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4 August 2017

case report

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title

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

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stated in

Europe PubMed Central

PubMed publication ID

21227401

retrieved

4 August 2017

Allelic Dropout Can Cause False-Positive Results for Prader-Willi and Angelman Syndrome Testing (English)

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stated in

Crossref

DOI

10.1016/J.JMOLDX.2010.11.006

reference URL

https://api.crossref.org/works/10.1016/J.JMOLDX.2010.11.006

retrieved

21 November 2024

main subject

Angelman syndrome

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inferred from title

allele

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stated in

Europe PubMed Central

PubMed publication ID

21227401

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21227401

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21 November 2024

author name string

Syed Hussain Askree

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1

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Europe PubMed Central

PubMed publication ID

21227401

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4 August 2017

Muhammad Ali Pervaiz

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3

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Europe PubMed Central

PubMed publication ID

21227401

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4 August 2017

Margaret Adam

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4

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Europe PubMed Central

PubMed publication ID

21227401

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4 August 2017

Madhuri Hedge

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6

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Europe PubMed Central

PubMed publication ID

21227401

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4 August 2017

Bradford Coffee

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7

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Europe PubMed Central

PubMed publication ID

21227401

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4 August 2017

Lawrence N. Hjelm

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2

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Europe PubMed Central

PubMed publication ID

21227401

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21227401

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21 November 2024

Lora J. H. Bean

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5

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Europe PubMed Central

PubMed publication ID

21227401

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21227401

retrieved

21 November 2024

language of work or name

English

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National Center for Biotechnology Information

PubMed publication ID

21227401

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21227401

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21 November 2024

publication date

23 December 2010

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Europe PubMed Central

PubMed publication ID

21227401

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4 August 2017

full work available at URL

http://www.jmdjournal.org/article/S1525157810000206/pdf

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online access status

open access

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Europe PubMed Central

PubMed publication ID

21227401

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21227401

retrieved

21 November 2024

http://jmd.amjpathol.org/cgi/content/abstract/13/1/108

online access status

open access

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21227401

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21227401

retrieved

21 November 2024

https://europepmc.org/articles/PMC3069869

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HTML

online access status

open access

content deliverer

Europe PubMed Central

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21227401

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21227401

retrieved

21 November 2024

https://europepmc.org/articles/PMC3069869?pdf=render

file format

Portable Document Format

online access status

open access

content deliverer

Europe PubMed Central

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21227401

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21227401

retrieved

21 November 2024

https://doi.org/10.1016/j.jmoldx.2010.11.006

online access status

open access

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21227401

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21227401

retrieved

21 November 2024

https://api.elsevier.com/content/article/PII:S1525157810000206?httpAccept=text/xml

1 reference

stated in

Crossref

DOI

10.1016/J.JMOLDX.2010.11.006

reference URL

https://api.crossref.org/works/10.1016/J.JMOLDX.2010.11.006

retrieved

21 November 2024

https://api.elsevier.com/content/article/PII:S1525157810000206?httpAccept=text/plain

1 reference

stated in

Crossref

DOI

10.1016/J.JMOLDX.2010.11.006

reference URL

https://api.crossref.org/works/10.1016/J.JMOLDX.2010.11.006

retrieved

21 November 2024

published in

The Journal of Molecular Diagnostics

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Europe PubMed Central

PubMed publication ID

21227401

retrieved

4 August 2017

volume

13

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Europe PubMed Central

PubMed publication ID

21227401

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4 August 2017

issue

1

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Europe PubMed Central

PubMed publication ID

21227401

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4 August 2017

page(s)

108-112

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Europe PubMed Central

PubMed publication ID

21227401

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4 August 2017

cites work

Microarray-based mutation detection in the dystrophin gene

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reference URL

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7 July 2018

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

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7 July 2018

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

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PubMed Central

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

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7 July 2018

An imprinted, mammalian bicistronic transcript encodes two independent proteins

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PubMed Central

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7 July 2018

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

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PubMed Central

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

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7 July 2018

Methylation-specific PCR simplifies imprinting analysis

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7 July 2018

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

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PubMed Central

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7 July 2018

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

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PubMed Central

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

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7 July 2018

High sensitivity mapping of methylated cytosines

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PubMed Central

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7 July 2018

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

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PubMed Central

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

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7 July 2018

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

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PubMed Central

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

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7 July 2018

Detection of specific sequences among DNA fragments separated by gel electrophoresis

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PubMed Central

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

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7 July 2018

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

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26 October 2018

The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brain

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PubMed Central

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

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26 October 2018

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

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PubMed

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

‘Puppet’ Children A Report on Three Cases

series ordinal

8

1 reference

stated in

Crossref

DOI

10.1016/J.JMOLDX.2010.11.006

reference URL

https://api.crossref.org/works/10.1016/J.JMOLDX.2010.11.006

retrieved

21 November 2024

Identifiers

DOI

10.1016/J.JMOLDX.2010.11.006

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21227401

retrieved

4 August 2017

PMC publication ID

3069869

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21227401

retrieved

4 August 2017

PubMed publication ID

21227401

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21227401

retrieved

4 August 2017

ResearchGate publication ID

49748103

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