(Q24681713)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

A Moncla

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

P Malzac

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

M O Livet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

M A Voelckel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

J Mancini

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

J C Delaroziere

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

N Philip

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

J F Mattei

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

language of work or name

English

0 references

publication date

1 July 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

10 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

554-560

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

UBE3A/E6-AP mutations cause Angelman syndrome

10 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

The spectrum of mutations in UBE3A causing Angelman syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

Mutation analysis of UBE3A in Angelman syndrome patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

Linkage analysis in familial Angelman syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

Molecular mechanisms in Angelman syndrome: a survey of 93 patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

Molecular and clinical study of 61 Angelman syndrome patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

Clinical profile of Angelman syndrome at different ages

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

The 'happy puppet' syndrome of Angelman: review of the clinical features

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

Angelman syndrome: clinical profile

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

Imprinting in Angelman and Prader-Willi syndromes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

Genetic counseling in Angelman syndrome: the challenges of multiple causes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

The Angelman (Happy Puppet) syndrome: is it autosomal recessive?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

The EEG in early diagnosis of the Angelman (happy puppet) syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

The Angelman syndrome in two brothers.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734398

On the prevalence of Angelman syndrome

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10424818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cortical myoclonus in Angelman syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10424818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10424818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424818%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

PubMed publication ID

10424818

1 reference