(Q33678130)

28 July 2017

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis (English)

1 reference

28 July 2017

0 references

Kubota T

1

1 reference

28 July 2017

Aradhya S

2

1 reference

28 July 2017

Macha M

3

1 reference

28 July 2017

Smith AC

4

1 reference

28 July 2017

Surh LC

5

1 reference

28 July 2017

Satish J

6

1 reference

28 July 2017

Verp MS

7

1 reference

28 July 2017

Nee HL

8

1 reference

28 July 2017

Johnson A

9

1 reference

28 July 2017

Christan SL

10

1 reference

28 July 2017

Ledbetter DH

11

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 December 1996

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

33

1 reference

28 July 2017

1011-1014

1 reference

28 July 2017

12

1 reference

Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050812

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050812

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050812

Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050812

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050812

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050812

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050812

Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050812

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050812

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050812

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

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9004133

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Deletion and uniparental disomy involving the same maternal chromosome 15

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9004133

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9004133

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.12.1011

1 reference

28 July 2017

1 reference

28 July 2017

1 reference