Unbalanced translocation t(15;22) in "severe" Prader-Willi syndrome (Q38494572)

3 September 2017

title

Unbalanced translocation t(15;22) in "severe" Prader-Willi syndrome (English)

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3 September 2017

Smith A

1

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3 September 2017

Jauch A

2

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3 September 2017

St Heaps L

3

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3 September 2017

Robson L

4

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3 September 2017

Kearney B

5

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3 September 2017

publication date

1 July 2000

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3 September 2017

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3 September 2017

volume

43

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3 September 2017

issue

3-4

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3 September 2017

page(s)

125-130

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Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype

3 September 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2901017-0

Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes

7 January 2021

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2901017-0

Prader-Willi syndrome: current understanding of cause and diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2901017-0

Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2901017-0

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2901017-0

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2901017-0

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2901017-0

Adults with Prader-Willi syndrome: a survey of 232 cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2901017-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2901017-0

Prader-Willi-like phenotype in fragile X syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2901017-0

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2901017-0

The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2901017-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2901017-0

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

7 January 2021

1 reference

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10.1016/S0003-3995(00)01017-0

7 January 2021

Identifiers

DOI

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release_bdb625cvsrb3xejoxrstvgwl2i

3 September 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/bdb625cvsrb3xejoxrstvgwl2i

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference