Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome (Q48126284)

8 February 2018

title

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

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8 February 2018

Sylvie Rossignol

2

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author name string

Christine Gicquel

1

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Sylvie Cabrol

3

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Muriel Houang

4

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Virginie Steunou

5

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Véronique Barbu

6

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Fabienne Danton

7

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Nathalie Thibaud

8

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Martine Le Merrer

9

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Lydie Burglen

10

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Anne-Marie Bertrand

11

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Irène Netchine

12

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Yves Le Bouc

13

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8 February 2018

language of work or name

English

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publication date

7 August 2005

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8 February 2018

published in

Nature Genetics

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8 February 2018

volume

37

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issue

9

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page(s)

1003-1007

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https://scigraph.springernature.com/pub.10.1038/ng1629

exact match

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cites work

A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting.

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7 January 2021

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

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7 January 2021

Disruption of imprinting caused by deletion of the H19 gene region in mice

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Synthesis of microporous transition-metal-oxide molecular sieves by a supramolecular templating mechanism

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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.

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7 January 2021

Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions

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Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

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7 January 2021

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

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7 January 2021

Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

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7 January 2021

Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients

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7 January 2021

Analysis of genomic variants in the KCNQ1OT1 transcript in Silver-Russell syndrome patients

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7 January 2021

An intragenic methylated region in the imprinted Igf2 gene augments transcription.

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7 January 2021

Antagonism between DNA hypermethylation and enhancer-blocking activity at the H19 DMD is uncovered by CpG mutations.

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7 January 2021

Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene

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7 January 2021

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus

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7 January 2021

The 5' flank of mouse H19 in an unusual chromatin conformation unidirectionally blocks enhancer-promoter communication

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7 January 2021

CTCF maintains differential methylation at the Igf2/H19 locus

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7 January 2021

Transgenic RNAi reveals essential function for CTCF in H19 gene imprinting

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7 January 2021

Interaction between differentially methylated regions partitions the imprinted genes Igf2 and H19 into parent-specific chromatin loops

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7 January 2021

Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain.

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7 January 2021

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome

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7 January 2021

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

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7 January 2021

Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome

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7 January 2021

The product of the H19 gene may function as an RNA

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7 January 2021

Methylation sequencing analysis refines the region of H19 epimutation in Wilms tumor

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7 January 2021

Bisulfite genomic sequencing: systematic investigation of critical experimental parameters

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7 January 2021

De novo quantitative bisulfite sequencing using the pyrosequencing technology.

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7 January 2021

CTCF binding at the insulin-like growth factor-II (IGF2)/H19 imprinting control region is insufficient to regulate IGF2/H19 expression in human tissues

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7 January 2021

Hypoxia-induced VEGF and collagen I expressions are associated with angiogenesis and fibrogenesis in experimental cirrhosis

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7 January 2021

Identifiers

DOI

10.1038/NG1629

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8 February 2018

Dimensions Publication ID

1010752206

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8 February 2018