(Q42354455)

27 October 2017

Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis (English)

1 reference

27 October 2017

Jet Bliek

2

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author name string

Marielle Alders

1

1 reference

27 October 2017

Karin vd Lip

3

1 reference

27 October 2017

Ruud vd Bogaard

4

1 reference

27 October 2017

Marcel Mannens

5

1 reference

27 October 2017

15 October 2008

1 reference

European Journal of Human Genetics

27 October 2017

1 reference

27 October 2017

17

1 reference

27 October 2017

4

1 reference

27 October 2017

467-473

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.197

27 October 2017

0 references

cites work

High-resolution DNA melting analysis for simple and efficient molecular diagnostics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986208

Methylation-sensitive high resolution melting (MS-HRM): a new approach for sensitive and high-throughput assessment of methylation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986208

Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986208

Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986208

Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986208

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986208

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

17 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2008.197

Methylation-Sensitive High-Resolution Melting-Curve Analysis of the SNRPN Gene as a Diagnostic Screen for Prader-Willi and Angelman Syndromes

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2008.197

Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986208

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

1 December 2018

1 reference

12 December 2020

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

1 reference

12 December 2020

DNA methylation analysis by pyrosequencing

1 reference

12 December 2020

Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome

1 reference

12 December 2020

IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia

1 reference

12 December 2020

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

1 reference

12 December 2020

Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.197

1 reference

Dimensions Publication ID

27 October 2017

0 references

1 reference

27 October 2017

PubMed publication ID

18854861

1 reference