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English
Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities
article published in 1999
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
6744832
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11258349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
title
Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
6744832
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11258349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
main subject
Prader–Willi syndrome
1 reference
based on heuristic
inferred from title
author name string
B Muralidhar
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
6744832
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11258349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
A Marney
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
6744832
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11258349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
M G Butler
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
6744832
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11258349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
publication date
1 May 1999
1 reference
stated in
Europe PubMed Central
PMC publication ID
6744832
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11258349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
published in
Genetics in Medicine
1 reference
stated in
Europe PubMed Central
PMC publication ID
6744832
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11258349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
volume
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
6744832
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11258349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
issue
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
6744832
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11258349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
page(s)
141-145
1 reference
stated in
Europe PubMed Central
PMC publication ID
6744832
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11258349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
cites work
Prader-Willi Syndrome: Genetics and Behavior
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Imprinting-mutation mechanisms in Prader-Willi syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Relaxation of imprinting in Prader-Willi syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Imprinting in Prader-Willi and Angelman syndromes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Methylation-specific PCR simplifies imprinting analysis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Prader-Willi syndrome: consensus diagnostic criteria.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Identification of a novel paternally expressed gene in the Prader-Willi syndrome region
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Prader-Willi syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Two patients with ring chromosome 15 syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Prader-Willi syndrome: current understanding of cause and diagnosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6744832
retrieved
11 February 2021
Identifiers
DOI
10.1097/00125817-199905000-00005
1 reference
stated in
Europe PubMed Central
PMC publication ID
6744832
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11258349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
PMC publication ID
6744832
1 reference
stated in
Europe PubMed Central
PMC publication ID
6744832
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11258349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
PubMed publication ID
11258349
1 reference
stated in
Europe PubMed Central
PMC publication ID
6744832
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11258349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
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