(Q53088998)

11 May 2018

title

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. (English)

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11 May 2018

author

Frederic Brioude

1

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11 May 2018

author name string

I Oliver-Petit

2

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11 May 2018

A Blaise

3

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11 May 2018

F Praz

4

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11 May 2018

S Rossignol

5

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11 May 2018

M Le Jule

6

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11 May 2018

N Thibaud

7

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11 May 2018

A-M Faussat

8

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11 May 2018

M Tauber

9

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11 May 2018

Y Le Bouc

10

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11 May 2018

I Netchine

11

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11 May 2018

language of work or name

English

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publication date

24 September 2013

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11 May 2018

Journal of Medical Genetics

published in

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11 May 2018

volume

50

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11 May 2018

issue

12

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11 May 2018

page(s)

823-830

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11 May 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

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/10.1136%2FJMEDGENET-2013-101691

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

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/10.1136%2FJMEDGENET-2013-101691

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/10.1136%2FJMEDGENET-2013-101691

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

New p57KIP2 mutations in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

Analysis of CDKN1C in Beckwith Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

PCNA, the maestro of the replication fork

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

IMAGe syndrome: Case report with a previously unreported feature and review of published literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

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/10.1136%2FJMEDGENET-2013-101691

Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith–Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101691

10.1136/JMEDGENET-2013-101691

21 January 2018

Identifiers

DOI

1 reference

11 May 2018

PubMed ID

24065356

1 reference

11 May 2018