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English
Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome
scientific article published on 01 September 2000
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10995513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10995513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
title
Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10995513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10995513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
main subject
Angelman syndrome
1 reference
based on heuristic
inferred from title
author name string
C Fridman
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10995513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10995513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
C P Koiffmann
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10995513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10995513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
publication date
1 September 2000
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10995513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10995513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10995513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10995513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
volume
94
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10995513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10995513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10995513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10995513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
page(s)
249-253
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10995513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10995513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
cites work
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Chiasma function
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Angelman syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
A comprehensive genetic map of the human genome based on 5,264 microsatellites
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
A new genetic concept: uniparental disomy and its potential effect, isodisomy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Uniparental disomy revisited: the first twelve years
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Uniparental paternal disomy in Angelman's syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Imprinting in Prader-Willi and Angelman syndromes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Tetranucleotide repeat polymorphism at the human aromatase cytochrome P-450 gene (CYP19).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Report of the Third International Workshop on Human Chromosome 15 Mapping 1996. October 25-27, 1996 in Vancouver B.C., Canada
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Cytogenetic and age-dependent risk factors associated with uniparental disomy 15
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X
retrieved
21 January 2018
Identifiers
DOI
10.1002/1096-8628(20000918)94:3<249::AID-AJMG12>3.0.CO;2-X
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10995513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10995513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
PubMed publication ID
10995513
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10995513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10995513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
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