(Q36648088)

English

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction

scientific article published on 14 December 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

author name string

Agostina De Crescenzo

1

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Angela Sparago

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Flavia Cerrato

3

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Orazio Palumbo

4

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Massimo Carella

5

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Marco Miceli

6

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Moshe Bronshtein

7

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Andrea Riccio

8

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Yuval Yaron

9

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

language of work or name

0 references

publication date

14 December 2012

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

50

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

99-103

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

30 September 2017

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

30 September 2017

Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

30 September 2017

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

30 September 2017

p57(Kip2) and cancer: time for a critical appraisal.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

30 September 2017

Mammalian genomic imprinting.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

30 September 2017

Genetic and epigenetic findings in Silver-Russell syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

30 September 2017

The imprinted Phlda2 gene regulates extraembryonic energy stores

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

30 September 2017

The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

30 September 2017

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=3585485

30 September 2017

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=3585485

30 September 2017

The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicated in Fas expression and apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

30 September 2017

Disruption of an imprinted gene cluster by a targeted chromosomal translocation in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

28 June 2018

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

20 September 2018

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

20 September 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=3585485

20 September 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585485

20 September 2018

Beckwith-Wiedemann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23243085

12 December 2020

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Identifiers

10.1136/JMEDGENET-2012-101352

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

ResearchGate publication ID

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