(Q33593894)

28 July 2017

title

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

1 reference

Beckwith-Wiedemann syndrome

28 July 2017

main subject

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Moutou C

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28 July 2017

Junien C

series ordinal

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28 July 2017

Henry I

series ordinal

1 reference

28 July 2017

Bonaïti-Pellié C

series ordinal

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28 July 2017

language of work or name

English

0 references

publication date

1 April 1992

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

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28 July 2017

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28 July 2017

page(s)

217-220

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Genetic tests under incomplete ascertainment

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015915

Abnormality of chromosome 11 in patients with features of 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=1015915

Partial trisomy 11p with interatrial septal aneurysm. Case report and literature review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015915

Nonrandom loss of maternal chromosome 11 alleles in Wilms tumors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015915

A model for embryonal rhabdomyosarcoma tumorigenesis that involves genome 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=1015915

Dominant inheritance of Wiedemann-Beckwith syndrome: further evidence for transmission of "unstable premutation" through carrier women

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015915

Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015915

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=1015915

Genomic imprinting and the 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=1015915

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=1015915

Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studies

21 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015915

21 June 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015915

Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015915

Beckwith-Wiedemann syndrome. Clinical comparison between patients with and without 11p15 trisomy

30 October 2018

1 reference

12 December 2020

Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome

1 reference

12 December 2020

Cellular mosaicism in the methylation and expression of hemizygous loci in the mouse

1 reference

12 December 2020

Bronze baby syndrome, biliary hypoplasia, incomplete Beckwith-Wiedemann syndrome and partial trisomy 11

1 reference

12 December 2020

Maternal allele loss in Wilms' tumour

1 reference

12 December 2020

Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma

1 reference

12 December 2020

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

1 reference

12 December 2020

Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases

1 reference

12 December 2020

Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.29.4.217

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28 July 2017

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28 July 2017

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