(Q33780868)

29 July 2017

title

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects (English)

1 reference

Beckwith-Wiedemann syndrome

29 July 2017

main subject

1 reference

10

Eamonn R Maher

1 reference

29 July 2017

Abdulla Ibrahim

1

1 reference

29 July 2017

Gail Kirby

2

1 reference

29 July 2017

Carol Hardy

3

1 reference

29 July 2017

Renuka P Dias

4

1 reference

29 July 2017

Louise Tee

5

1 reference

29 July 2017

Derek Lim

6

1 reference

29 July 2017

Jonathan Berg

7

1 reference

29 July 2017

Fiona MacDonald

8

1 reference

29 July 2017

Peter Nightingale

9

1 reference

29 July 2017

language of work or name

1 reference

4 June 2014

1 reference

29 July 2017

1 reference

29 July 2017

volume

6

1 reference

29 July 2017

issue

1

1 reference

29 July 2017

page(s)

11

1 reference

Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.

29 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=4064264

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

Molecular findings in Beckwith-Wiedemann syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

The role of imprinted genes in humans

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

Human imprinting syndromes.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

A clinical model to estimate the pretest probability of lung cancer in patients with solitary pulmonary nodules

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

FAMILIAL MALFORMATION COMPLEX WITH UMBILICAL HERNIA AND MACROGLOSSIA--A "NEW SYNDROME"?

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

Genomic imprinting: parental influence on the genome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

4 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1868-7083-6-11

Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1868-7083-6-11

Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

30 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1868-7083-6-11

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4064264

Bootstrap resampling methods: something for nothing?

30 October 2018

1 reference

12 December 2020

Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol

1 reference

12 December 2020

Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS)

1 reference

12 December 2020

Identifiers

DOI

10.1186/1868-7083-6-11

1 reference

Dimensions Publication ID

29 July 2017

1026995848

0 references

Fatcat ID

release_an22y5ubzngq3dgbade3o7vubm

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/an22y5ubzngq3dgbade3o7vubm

24 November 2022

mapped directly with Wikidata item

PMC publication ID

4064264

1 reference

29 July 2017

1 reference