(Q72387793)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168819%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168819%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference

A Smith

1

1 reference

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26 October 2019

Z M Deng

2

1 reference

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26 October 2019

R Beran

3

1 reference

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26 October 2019

T Woodage

4

1 reference

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26 October 2019

R J Trent

5

1 reference

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26 October 2019

publication date

1 April 1994

1 reference

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26 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168819%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

volume

93

1 reference

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26 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168819%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

page(s)

471-473

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168819%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00201679

26 October 2019

exact match

0 references

cites work

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

1 reference

12 December 2020

Chromosome 15 uniparental disomy is not frequent in Angelman syndrome

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

1 reference

12 December 2020

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

1 reference

12 December 2020

Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15

1 reference

12 December 2020

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

1 reference

12 December 2020

Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome

1 reference

12 December 2020

Uniparental paternal disomy in Angelman's syndrome

1 reference

12 December 2020

Molecular and cytogenetic studies of the Prader-Willi syndrome

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

Identifiers

DOI

10.1007/BF00201679

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168819%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference