Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. (Q33675226)

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26 October 2019

title

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome (English)

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26 October 2019

6

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26 October 2019

author name string

R E Slatter

1

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26 October 2019

M Elliott

2

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26 October 2019

K Welham

3

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26 October 2019

M Carrera

4

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26 October 2019

P N Schofield

5

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26 October 2019

E R Maher

7

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26 October 2019

language of work or name

English

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publication date

1 October 1994

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Journal of Medical Genetics

26 October 2019

published in

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26 October 2019

volume

31

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26 October 2019

issue

10

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26 October 2019

page(s)

749-753

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Parental-origin-specific epigenetic modification of the mouse H19 gene

26 October 2019

cites work

1 reference

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Nondisjunction of chromosome 15: origin and recombination

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Uniparental disomy occurs infrequently in Wilms tumor patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Constitutional relaxation of insulin-like growth factor II gene imprinting associated with Wilms' tumour and gigantism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Wiedemann-Beckwith syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Embryological and molecular investigations of parental imprinting on mouse chromosome 7.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Parental imprinting of the mouse insulin-like growth factor II gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Dinucleotide repeat polymorphism at the human non-histone chromosomal protein HMG14 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Parental imprinting of the mouse H19 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

The product of the H19 gene may function as an RNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Beckwith-Wiedemann syndrome, tumourigenesis and imprinting

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Monoallelic expression of the human H19 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Relaxation of imprinted genes in human cancer.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050119

Beckwith-Wiedemann syndrome

30 October 2018

1 reference

12 December 2020

Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasms

1 reference

12 December 2020

Molecular analysis of patients with Wiedemann-Beckwith syndrome. II. Paternally derived disomies of chromosome 11

1 reference

12 December 2020

Detection of loss of heterozygosity at the human TP53 locus using a dinucleotide repeat polymorphism

1 reference

12 December 2020

Genetic mosaicism in normal tissues of Wilms' tumour patients

1 reference

12 December 2020

IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted

1 reference

12 December 2020

Tumour-suppressor activity of H19 RNA

1 reference

12 December 2020

Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours

1 reference

12 December 2020

Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.10.749

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837249%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

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26 October 2019

PubMed publication ID

7837249

1 reference