Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome (Q74338150)

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scientific article published on 01 September 2000

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Language	Label	Description	Also known as
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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instance of

scholarly article

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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)

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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

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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

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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

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10 November 2019

issue

3

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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

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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

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-X

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21 January 2018

Chiasma function

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retrieved

21 January 2018

Angelman syndrome

1 reference

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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

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21 January 2018

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

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reference URL

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21 January 2018

Uniparental disomy revisited: the first twelve years

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retrieved

21 January 2018

Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection

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retrieved

21 January 2018

A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction

1 reference

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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

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Crossref

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retrieved

21 January 2018

Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q

1 reference

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Crossref

reference URL

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21 January 2018

Uniparental paternal disomy in Angelman's syndrome

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Crossref

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21 January 2018

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

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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.

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21 January 2018

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

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21 January 2018

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

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21 January 2018

Imprinting in Prader-Willi and Angelman syndromes

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21 January 2018

Tetranucleotide repeat polymorphism at the human aromatase cytochrome P-450 gene (CYP19).

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21 January 2018

Report of the Third International Workshop on Human Chromosome 15 Mapping 1996. October 25-27, 1996 in Vancouver B.C., Canada

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21 January 2018

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination

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21 January 2018

Cytogenetic and age-dependent risk factors associated with uniparental disomy 15

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21 January 2018

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

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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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