(Q34705172)

4 August 2017

0 references

An atypical case of hypomethylation at multiple imprinted loci (English)

1 reference

ORCID Public Data File 2021

4 August 2017

1 reference

author name string

Emma L Baple

1

1 reference

4 August 2017

Rebecca L Poole

2

1 reference

4 August 2017

Sahar Mansour

3

1 reference

4 August 2017

Catherine Willoughby

4

1 reference

4 August 2017

I Karen Temple

5

1 reference

4 August 2017

Louise E Docherty

6

1 reference

4 August 2017

Rohan Taylor

7

1 reference

4 August 2017

Deborah J G Mackay

8

1 reference

4 August 2017

publication date

5 January 2011

1 reference

European Journal of Human Genetics

4 August 2017

published in

1 reference

4 August 2017

volume

19

1 reference

4 August 2017

issue

3

1 reference

4 August 2017

page(s)

360-362

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.218

4 August 2017

exact match

0 references

cites work

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061991

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061991

Angelman syndrome (AS, MIM 105830)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061991

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061991

Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting 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=3061991

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061991

The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 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=3061991

Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061991

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061991

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=3061991

7 July 2018

Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.218

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.218

A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.218

Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.218

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.218

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.218

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21206512

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21206512

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.218

1 reference

Dimensions Publication ID

4 August 2017

0 references

1 reference

4 August 2017

1 reference