(Q31044124)

English

An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C.

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C. (English)

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

author name string

Elizabeth Algar

1

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

Vinod Dagar

2

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

Menka Sebaj

3

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

Nicholas Pachter

4

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

language of work or name

0 references

publication date

19 December 2011

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

6

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

12

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

e29034

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

copyright license

Creative Commons Attribution 4.0 International

19 December 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

describes a project that uses

object named as

ImageQuant TL

2 references

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3242768/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

Inherited and Sporadic Epimutations at the IGF2-H19 locus 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=3242768

28 July 2018

Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

Kcnq1ot1/Lit1 noncoding RNA mediates transcriptional silencing by targeting to the perinucleolar region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

Allele-specific binding of CTCF to the multipartite imprinting control region KvDMR1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

Beckwith-Wiedemann syndrome: multiple molecular mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

Elongation of the Kcnq1ot1 transcript is required for genomic imprinting of neighboring genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

Standardization and quality control studies of 'real-time' quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia - a Europe Against Cancer program.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242768

28 July 2018

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://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029034

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029034

21 January 2018

Imprinting on distal chromosome 7 in the placenta involves repressive histone methylation independent of DNA methylation.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029034

21 January 2018

Two distinct mechanisms of silencing by the KvDMR1 imprinting control region

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029034

21 January 2018

Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndrome.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029034

21 January 2018

Analysis of CDKN1C in Beckwith Wiedemann syndrome.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029034

21 January 2018

Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22205991

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor

1 reference

https://pubmed.ncbi.nlm.nih.gov/22205991

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

1 reference

https://pubmed.ncbi.nlm.nih.gov/22205991

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22205991

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0029034

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

2011PLoSO...629034A

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 September 2017

ResearchGate publication ID

0 references

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