(Q40492792)

English

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

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scholarly article

1 reference

Europe PubMed Central

21 September 2017

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Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. (English)

1 reference

Europe PubMed Central

21 September 2017

Beckwith-Wiedemann syndrome

1 reference

based on heuristic

inferred from title

author name string

Rebecca L Poole

1

1 reference

Europe PubMed Central

21 September 2017

Donald J Leith

2

1 reference

Europe PubMed Central

21 September 2017

Louise E Docherty

3

1 reference

Europe PubMed Central

21 September 2017

Mansur E Shmela

4

1 reference

Europe PubMed Central

21 September 2017

Christine Gicquel

5

1 reference

Europe PubMed Central

21 September 2017

Miranda Splitt

6

1 reference

Europe PubMed Central

21 September 2017

I Karen Temple

7

1 reference

Europe PubMed Central

21 September 2017

Deborah J G Mackay

8

1 reference

Europe PubMed Central

21 September 2017

publication date

24 August 2011

1 reference

Europe PubMed Central

21 September 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

21 September 2017

20

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Europe PubMed Central

21 September 2017

2

1 reference

Europe PubMed Central

21 September 2017

240-243

1 reference

Europe PubMed Central

21 September 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.166

0 references

Genomic imprinting mechanisms in mammals.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260935

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260935

22 September 2017

Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260935

22 September 2017

A dyad oct-binding sequence functions as a maintenance sequence for the unmethylated state within the H19/Igf2-imprinted control region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260935

22 September 2017

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260935

20 August 2018

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260935

20 August 2018

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260935

20 August 2018

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.166

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.166

21 January 2018

Beckwith-Wiedemann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21863054

12 December 2020

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10.1038/EJHG.2011.166

1 reference

Europe PubMed Central

21 September 2017

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1 reference

Europe PubMed Central

21 September 2017

1 reference

Europe PubMed Central

21 September 2017

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