Analysis of CDKN1C in Beckwith Wiedemann syndrome. (Q52539681)

2 May 2018

title

Analysis of CDKN1C in Beckwith Wiedemann syndrome. (English)

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2 May 2018

author name string

Algar E

1

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2 May 2018

Brickell S

2

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2 May 2018

Deeble G

3

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2 May 2018

Amor D

4

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2 May 2018

Smith P

5

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2 May 2018

publication date

1 January 2000

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2 May 2018

published in

Human Mutation

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2 May 2018

volume

15

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2 May 2018

issue

6

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2 May 2018

page(s)

497-508

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2 May 2018

Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway

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Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster

21 January 2018

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Chromosome 11p15.5 regional imprinting: comparative analysis of KIP2 and H19 in human tissues and Wilms' tumors

21 January 2018

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Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes

21 January 2018

1 reference

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An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

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New p57KIP2 mutations in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

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Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

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Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

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Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.

21 January 2018

1 reference

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Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting

21 January 2018

1 reference

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Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15

21 January 2018

1 reference

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LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids

21 January 2018

1 reference

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Somatic overgrowth associated with overexpression of insulin-like growth factor II.

21 January 2018

1 reference

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Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females

21 January 2018

1 reference

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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

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Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200006%2915%3A6%3C497%3A%3AAID-HUMU2%3E3.0.CO%3B2-F

Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

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Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200006%2915%3A6%3C497%3A%3AAID-HUMU2%3E3.0.CO%3B2-F

Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200006%2915%3A6%3C497%3A%3AAID-HUMU2%3E3.0.CO%3B2-F

Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200006%2915%3A6%3C497%3A%3AAID-HUMU2%3E3.0.CO%3B2-F

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/10.1002%2F1098-1004%28200006%2915%3A6%3C497%3A%3AAID-HUMU2%3E3.0.CO%3B2-F

Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200006%2915%3A6%3C497%3A%3AAID-HUMU2%3E3.0.CO%3B2-F

The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200006%2915%3A6%3C497%3A%3AAID-HUMU2%3E3.0.CO%3B2-F

Insulin-like growth factor 2 cannot be linked to a familial form of Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200006%2915%3A6%3C497%3A%3AAID-HUMU2%3E3.0.CO%3B2-F

Human p57(KIP2) defines a new imprinted domain on chromosome 11p but is not a tumour suppressor gene in Wilms tumour

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200006%2915%3A6%3C497%3A%3AAID-HUMU2%3E3.0.CO%3B2-F

10.1002/1098-1004(200006)15:6<497::AID-HUMU2>3.0.CO;2-F

21 January 2018

Identifiers

DOI

1 reference

2 May 2018

release_4krbi2l3bfhahlz5g3rnopfhoa

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/4krbi2l3bfhahlz5g3rnopfhoa

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

10862080

1 reference

2 May 2018