(Q71126212)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651269%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651269%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

language of work or name

English

0 references

publication date

1 May 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651269%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

16 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651269%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651269%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

issue

5

1 reference

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16 October 2019

page(s)

1085-1088

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651269%20AND%20SRC:MED&resulttype=core&format=json

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

16 October 2019

cites work

1 reference

12 December 2020

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

1 reference

12 December 2020

Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes

1 reference

12 December 2020

Functional imprinting and epigenetic modification of the human SNRPN gene

1 reference

12 December 2020

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

1 reference

12 December 2020

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

1 reference

12 December 2020

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

1 reference

12 December 2020

Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651269%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference