(Q33683182)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

review article

1 reference

title

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

A Smith

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

C Wiles

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

E Haan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

J McGill

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

J Dixon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

R Selby

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

A Colley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

R Marks

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

R J Trent

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

language of work or name

English

0 references

publication date

1 February 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

21 October 2019

published in

1 reference

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21 October 2019

volume

1 reference

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21 October 2019

issue

1 reference

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21 October 2019

page(s)

107-112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review

21 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

New insights reveal complex mechanisms involved in genomic imprinting.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

The Prader-Willi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Molecular mechanisms in Angelman syndrome: a survey of 93 patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Diagnosis in Prader-Willi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Molecular and clinical study of 61 Angelman syndrome patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

The "happy puppet" syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Angelman (happy puppet) syndrome in a girl and her brother

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

The association of Angelman's syndrome with deletions within 15q11-13

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Angelman's syndrome in infancy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Maternal origin of deletion 15q11–13 in 25/25 cases of Angelman syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Uniparental paternal disomy in Angelman's syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Angelman syndrome: clinical profile

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

Epilepsy in Angelman syndrome associated with chromosome 15q deletion

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051834

A variety of genetic mechanisms are associated with the Prader-Willi syndrome

30 October 2018

1 reference

12 December 2020

Cytogenetic and molecular study of Angelman syndrome

1 reference

12 December 2020

Angelman's syndrome in the first year of life

1 reference

12 December 2020

Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients

1 reference

12 December 2020

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15

1 reference

12 December 2020

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

1 reference

12 December 2020

Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Cytogenetic and molecular analysis in Angelman syndrome

1 reference

12 December 2020

Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome

1 reference

12 December 2020

Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.2.107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

PubMed publication ID

8929945

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8929945%20AND%20SRC:MED&resulttype=core&format=json