Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression (Q36371745)

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English	Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression	scientific article

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scholarly article

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Europe PubMed Central

13 August 2017

Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression (English)

1 reference

Europe PubMed Central

13 August 2017

hypermethylation

1 reference

based on heuristic

inferred from title

Reid F Thompson

object named as

Reid Thompson

3

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object named as

Adam C Smith

1

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object named as

John M Greally

8

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Jeremy A. Squire

object named as

Jeremy A Squire

7

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author name string

Masako Suzuki

2

1 reference

Europe PubMed Central

13 August 2017

Sanaa Choufani

4

1 reference

Europe PubMed Central

13 August 2017

Michael J Higgins

5

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Europe PubMed Central

13 August 2017

Idy W Chiu

6

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Europe PubMed Central

13 August 2017

Rosanna Weksberg

9

1 reference

Europe PubMed Central

13 August 2017

publication date

3 November 2011

1 reference

Europe PubMed Central

13 August 2017

1 reference

Europe PubMed Central

13 August 2017

99

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Europe PubMed Central

13 August 2017

25-35

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Europe PubMed Central

13 August 2017

1

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Europe PubMed Central

13 August 2017

Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

Comparative isoschizomer profiling of cytosine methylation: the HELP assay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

DNA methylation and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

Chromosome-wide and promoter-specific analyses identify sites of differential DNA methylation in normal and transformed human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

Mathematics of quantitative kinetic PCR and the application of standard curves

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

Gene expression analysis using oligonucleotide arrays produced by maskless photolithography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

A new non-linear normalization method for reducing variability in DNA microarray experiments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

Comprehensive analysis of CpG islands in human chromosomes 21 and 22

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

Frequent loss of imprinting of IGF2 and MEST in lung adenocarcinoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

CpG-rich islands and the function of DNA methylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

30 September 2017

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

28 June 2018

Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

28 June 2018

Establishment of a rhabdoid tumor cell line with a specific chromosomal abnormality, 46,XY,t(11;22)(p15.5;q11.23)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

28 June 2018

Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

21 September 2018

Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

21 September 2018

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

21 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

21 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

21 September 2018

Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

21 October 2018

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

5 December 2018

Alterations of H19 Imprinting and IGF2 Replication Timing Are Infrequent in Beckwith–Wiedemann Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4679140

5 December 2018

Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2011.10.007

7 January 2021

Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2011.10.007

7 January 2021

Suggestive evidence for chromosomal localization of non-coding RNA from imprinted LIT1

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2011.10.007

7 January 2021

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2011.10.007

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2011.10.007

7 January 2021

Localization of Beckwith-Wiedemann and rhabdoid tumor chromosome rearrangements to a defined interval in chromosome band 11p15.5.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2011.10.007

7 January 2021

Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5)

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2011.10.007

7 January 2021

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

https://api.crossref.org/works/10.1016%2FJ.YGENO.2011.10.007

7 January 2021

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2011.10.007

7 January 2021

Pyrosequencing protocol using a universal biotinylated primer for mutation detection and SNP genotyping

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2011.10.007

7 January 2021

Pyrosequencing protocol requiring a unique biotinylated primer

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2011.10.007

7 January 2021

Loss of imprinting of long QT intronic transcript 1 in colorectal cancer

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2011.10.007

7 January 2021

Identifiers

10.1016/J.YGENO.2011.10.007

1 reference

Europe PubMed Central

13 August 2017

1 reference

Europe PubMed Central

13 August 2017

1 reference

Europe PubMed Central

13 August 2017

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