(Q37965878)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22150955%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes (English)

1 reference

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18 January 2020

1

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18 January 2020

author name string

C Gicquel

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22150955%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

publication date

16 January 2012

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18 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22150955%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22150955%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

issue

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22150955%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

350-361

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22150955%20AND%20SRC:MED&resulttype=core&format=json

Chromatin mechanisms in genomic imprinting

18 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Genomic imprinting in germ cells: imprints are under control.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Epigenetic reprogramming in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Genomic imprinting mechanisms in mammals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

The function of non-coding RNAs in genomic imprinting

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

The genetic aetiology of Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Epigenetics in Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

21 January 2018

Silver-Russell syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/Angelman syndromes domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

The pluripotency factor Oct4 interacts with Ctcf and also controls X-chromosome pairing and counting

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Conserved, developmentally regulated mechanism couples chromosomal looping and heterochromatin barrier activity at the homeobox gene A locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

CTCF function is modulated by neighboring DNA binding factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

H19 acts as a trans regulator of the imprinted gene network controlling growth in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

A nucleolar protein, H19 opposite tumor suppressor (HOTS), is a tumor growth inhibitor encoded by a human imprinted H19 antisense transcript.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

An enhancer deletion affects both H19 and Igf2 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Allele-specific DNA methylation: beyond imprinting

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Heritable individual-specific and allele-specific chromatin signatures in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Variation in transcription factor binding among humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Upregulation of c-MYC in cis through a large chromatin loop linked to a cancer risk-associated single-nucleotide polymorphism in colorectal cancer cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Impact of the genome on the epigenome is manifested in DNA methylation patterns of imprinted regions in monozygotic and dizygotic twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

In embryonic stem cells, ZFP57/KAP1 recognize a methylated hexanucleotide to affect chromatin and DNA methylation of imprinting control regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

CTCF is the master organizer of domain-wide allele-specific chromatin at the H19/Igf2 imprinted region

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Epigenetic and Genetic Mechanisms of Abnormal 11p15 Genomic Imprinting in Silver-Russell and Beckwith-Wiedemann Syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01822.X

10.1111/J.1399-0004.2011.01822.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22150955%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference