(Q33910416)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

Beckwith-Wiedemann syndrome

1 January 2020

main subject

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Emily L Niemitz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Michael R DeBaun

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Jonathan Fallon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Kazuhiro Murakami

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Hiroyuki Kugoh

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Mitsuo Oshimura

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

language of work or name

English

0 references

publication date

15 September 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

1 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

75

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

page(s)

844-849

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

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

1 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182113

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182113

Disruption of an imprinted gene cluster by a targeted chromosomal translocation in mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182113

Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182113

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182113

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182113

Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182113

Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182113

Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182113

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182113

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182113

Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour

5 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15372379

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Loss of imprinting in normal tissue of colorectal cancer patients with microsatellite instability

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15372379

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15372379

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/425343

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372379%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference