Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes. (Q37965878)

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18 January 2020

title

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

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1

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author name string

C Gicquel

series ordinal

2

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publication date

16 January 2012

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18 January 2020

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volume

81

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issue

4

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page(s)

350-361

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Chromatin mechanisms in genomic imprinting

18 January 2020

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Genomic imprinting in germ cells: imprints are under control.

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Epigenetic reprogramming in mammals

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

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

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

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Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

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

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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

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

21 January 2018

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

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Genomic imprinting mechanisms in mammals.

21 January 2018

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The function of non-coding RNAs in genomic imprinting

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

21 January 2018

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

21 January 2018

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

21 January 2018

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The genetic aetiology of Silver-Russell syndrome

21 January 2018

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Epigenetics in Silver-Russell syndrome

21 January 2018

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

21 January 2018

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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

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Silver-Russell syndrome

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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CTCF function is modulated by neighboring DNA binding factors

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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An enhancer deletion affects both H19 and Igf2 expression

21 January 2018

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Allele-specific DNA methylation: beyond imprinting

21 January 2018

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21 January 2018

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21 January 2018

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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

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

21 January 2018

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

21 January 2018

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10.1111/J.1399-0004.2011.01822.X

21 January 2018

Identifiers

DOI

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18 January 2020

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