(Q34428426)

2 August 2017

The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region (English)

1 reference

2 August 2017

1 reference

J S Sutcliffe

1

1 reference

2 August 2017

Y H Jiang

2

1 reference

2 August 2017

R J Galijaard

3

1 reference

2 August 2017

T Matsuura

4

1 reference

2 August 2017

P Fang

5

1 reference

2 August 2017

T Kubota

6

1 reference

2 August 2017

S L Christian

7

1 reference

2 August 2017

J Bressler

8

1 reference

2 August 2017

B Cattanach

9

1 reference

2 August 2017

D H Ledbetter

10

1 reference

2 August 2017

A L Beaudet

11

1 reference

2 August 2017

1 April 1997

1 reference

2 August 2017

1 reference

2 August 2017

7

1 reference

2 August 2017

368-377

1 reference

2 August 2017

4

1 reference

A candidate model for Angelman syndrome in the mouse.

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

UBE3A/E6-AP mutations cause Angelman syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Prader-Willi syndrome: consensus diagnostic criteria.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Linkage analysis in familial Angelman syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

DNA deletion and its parental origin in Angelman syndrome patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

Assignment of the human aggrecan gene (AGC1) to 15q26 using fluorescence in situ hybridization analysis

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1101%2FGR.7.4.368

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

21 January 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139148

27 October 2018

https://api.crossref.org/works/10.1101%2FGR.7.4.368

The critical region for Angelman syndrome lies between D15S122 and D15S113

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1101%2FGR.7.4.368

Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene

21 January 2018

1 reference

12 December 2020

Functional imprinting and epigenetic modification of the human SNRPN gene

1 reference

12 December 2020

Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13

1 reference

12 December 2020

Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb

1 reference

12 December 2020

Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region

1 reference

12 December 2020

Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee

1 reference

12 December 2020

Identifiers

DOI

10.1101/GR.7.4.368

1 reference

2 August 2017

1 reference

2 August 2017

1 reference