(Q35212739)

7 August 2017

title

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes (English)

1 reference

World Health Organization

7 August 2017

main subject

0 references

author name string

Jennifer Boyle

1

1 reference

7 August 2017

Malcolm Hawkins

2

1 reference

7 August 2017

David E Barton

3

1 reference

7 August 2017

Karen Meaney

4

1 reference

7 August 2017

Miriam Guitart

5

1 reference

7 August 2017

Anna O'Grady

6

1 reference

7 August 2017

Simon Tobi

7

1 reference

7 August 2017

Simon C Ramsden

8

1 reference

7 August 2017

Rob Elles

9

1 reference

7 August 2017

Elaine Gray

10

1 reference

7 August 2017

Paul Metcalfe

11

1 reference

7 August 2017

J Ross Hawkins

12

1 reference

7 August 2017

publication date

18 May 2011

1 reference

European Journal of Human Genetics

7 August 2017

published in

1 reference

7 August 2017

volume

19

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7 August 2017

issue

8

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7 August 2017

page(s)

857-864

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Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

7 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=3172937

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Clinical and genetic aspects of Angelman syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Cell culture-induced aberrant methylation of the imprinted IG DMR in human lymphoblastoid cell lines

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Genetic obesity syndromes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Angelman syndrome: a review of the clinical and genetic aspects

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Angelman syndrome: mimicking conditions and phenotypes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Methylation-specific PCR simplifies imprinting analysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

UBE3A/E6-AP mutations cause Angelman syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Angelman syndrome 2005: updated consensus for diagnostic criteria.

13 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.59

Establishment of the 1st International Genetic Reference Panel for Factor V Leiden, human gDNA.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172937

Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA

26 September 2018

1 reference

12 December 2020

EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines

1 reference

12 December 2020

Genetic reference materials and their application to haematology

1 reference

12 December 2020

Problems in detecting mosaic DNA methylation in Angelman syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Prader-Willi syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.59

1 reference

Dimensions Publication ID

7 August 2017

0 references

1 reference

7 August 2017

1 reference