(Q37442282)

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18 October 2019

title

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations (English)

1 reference

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18 October 2019

1

1 reference

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18 October 2019

Peter K. Rogan

3

1 reference

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18 October 2019

author name string

K Buiting

2

1 reference

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18 October 2019

J L Buxton

4

1 reference

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18 October 2019

D J Driscoll

5

1 reference

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18 October 2019

J Arnemann

6

1 reference

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18 October 2019

R König

7

1 reference

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18 October 2019

S Malcolm

8

1 reference

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18 October 2019

B Horsthemke

9

1 reference

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18 October 2019

R D Nicholls

10

1 reference

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18 October 2019

language of work or name

English

0 references

publication date

1 July 1996

1 reference

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18 October 2019

number of pages

5

1 reference

Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

1 reference

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18 October 2019

volume

93

1 reference

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18 October 2019

issue

15

1 reference

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18 October 2019

page(s)

7811-7815

1 reference

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Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene

18 October 2019

cites work

1 reference

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A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

Identification of a novel paternally expressed gene in the Prader-Willi syndrome region

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

Disruption of imprinting caused by deletion of the H19 gene region in mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

erg, a human ets-related gene on chromosome 21: alternative splicing, polyadenylation, and translation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

Genomic imprinting of p57KIP2, a cyclin-dependent kinase inhibitor, in mouse

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

Imprinting: a gamete's point of view

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

Allele-specific replication timing of imprinted gene regions

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

New insights reveal complex mechanisms involved in genomic imprinting.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

Parental imprinting of the Mas protooncogene in mouse

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=38830

Familial Prader-Willi syndrome with apparently normal chromosomes

2 September 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755558

12 December 2020

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755558

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

https://pubmed.ncbi.nlm.nih.gov/8755558

12 December 2020

Single nucleotide dimorphism in the transcribed region of the SNRPN gene at 15q12

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755558

12 December 2020

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755558

12 December 2020

Loss of imprinting in human cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755558

12 December 2020

Identifiers

DOI

10.1073/PNAS.93.15.7811

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755558%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755558%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

PubMed publication ID

8755558

1 reference