(Q54401181)

29 May 2018

title

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome. (English)

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29 May 2018

author name string

Berivan Baskin

1

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29 May 2018

Sanaa Choufani

2

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29 May 2018

Yi-An Chen

3

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29 May 2018

Cheryl Shuman

4

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29 May 2018

Nicole Parkinson

5

1 reference

29 May 2018

Emmanuelle Lemyre

6

1 reference

29 May 2018

A Micheil Innes

7

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29 May 2018

Dimitri J Stavropoulos

8

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29 May 2018

Peter N Ray

9

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29 May 2018

Rosanna Weksberg

10

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29 May 2018

publication date

24 October 2013

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29 May 2018

published in

Human Genetics

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29 May 2018

volume

133

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29 May 2018

page(s)

321-330

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29 May 2018

issue

3

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29 May 2018

https://scigraph.springernature.com/pub.10.1007/s00439-013-1379-z

exact match

0 references

cites work

An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1379-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1379-Z

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1379-Z

A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1379-Z

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1379-Z

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/10.1007%2FS00439-013-1379-Z

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/10.1007%2FS00439-013-1379-Z

Beckwith-Wiedemann syndrome: multiple molecular mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1379-Z

Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1379-Z

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1379-Z

Genomic imprinting: parental influence on the genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1379-Z

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/10.1007%2FS00439-013-1379-Z

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1379-Z

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/10.1007%2FS00439-013-1379-Z

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/10.1007%2FS00439-013-1379-Z

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1379-Z

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1379-Z

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1379-Z

Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15

21 January 2018

1 reference

12 December 2020

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

1 reference

12 December 2020

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

1 reference

12 December 2020

Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations

1 reference

12 December 2020

Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor

1 reference

12 December 2020

Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis

1 reference

12 December 2020

Beckwith-Wiedemann syndrome

1 reference

12 December 2020

10.1007/S00439-013-1379-Z

Identifiers

DOI

1 reference

29 May 2018

release_e7r3thf4evgffb6rpp46jlfaie

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/e7r3thf4evgffb6rpp46jlfaie

24 November 2022

mapped directly with Wikidata item

PubMed ID

24154661

1 reference

29 May 2018