(Q33679355)

28 July 2017

title

The elusive Angelman syndrome critical region (English)

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28 July 2017

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Trent RJ

1

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28 July 2017

Sheffield LJ

2

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28 July 2017

Deng ZM

3

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28 July 2017

Kim WS

4

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28 July 2017

Nassif NT

5

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28 July 2017

Ryce C

6

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28 July 2017

Woods CG

7

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28 July 2017

Michaelis RC

8

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28 July 2017

Tarleton J

9

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28 July 2017

Smith A

10

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28 July 2017

language of work or name

English

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publication date

1 September 1997

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

9

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28 July 2017

page(s)

714-718

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

28 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=1051053

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051053

UBE3A/E6-AP mutations cause Angelman syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051053

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051053

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051053

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051053

Report and abstracts of the Second International Workshop on Human Chromosome 15 Mapping. England, February 18-20, 1994.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051053

The ubiquitin-proteasome proteolytic pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051053

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051053

Imprinted chromosomal regions of the human genome display sex-specific meiotic recombination frequencies.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051053

The critical region for Angelman syndrome lies between D15S122 and D15S113

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051053

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

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9321755

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.34.9.714

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28 July 2017

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28 July 2017

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