(Q34146308)

31 July 2017

A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant? (English)

1 reference

31 July 2017

K Buiting

1

1 reference

31 July 2017

B Dittrich

2

1 reference

31 July 2017

B Dworniczak

3

1 reference

31 July 2017

I Lerer

4

1 reference

31 July 2017

D Abeliovich

5

1 reference

31 July 2017

S Cottrell

6

1 reference

31 July 2017

I K Temple

7

1 reference

31 July 2017

J F Harvey

8

1 reference

31 July 2017

C Lich

9

1 reference

31 July 2017

S Gross

10

1 reference

31 July 2017

B Horsthemke

11

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 December 1999

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

65

1 reference

31 July 2017

6

1 reference

31 July 2017

1588-1594

1 reference

Imprinting-mutation mechanisms in Prader-Willi syndrome

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288369

Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288369

The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288369

A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288369

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288369

Methylation-specific PCR simplifies imprinting analysis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288369

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288369

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288369

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288369

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288369

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288369

Imprinting in Prader-Willi and Angelman syndromes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288369

Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288369

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

28 October 2018

1 reference

12 December 2020

A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region

1 reference

12 December 2020

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

1 reference

12 December 2020

PW71 methylation test for Prader-Willi and Angelman syndromes

1 reference

12 December 2020

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome

1 reference

12 December 2020

A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus

1 reference

12 December 2020

Methylation analysis at three different loci within the imprinted region of chromosome 15q11-13

1 reference

12 December 2020

An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13

1 reference

12 December 2020

Identifiers

DOI

10.1086/302670

1 reference

release_gpydliv37jeyrc6scd4st4rnmy

31 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gpydliv37jeyrc6scd4st4rnmy

24 November 2022

mapped directly with Wikidata item

PMCID

1288369

1 reference

31 July 2017

1 reference