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The high prevalence of fragile X premutation carrier females: is this frequency unique to the French Canadian population?
scientific article published on November 1995
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801365
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485183%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
editorial
0 references
title
The high prevalence of fragile X premutation carrier females: is this frequency unique to the French Canadian population?
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801365
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485183%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
author name string
Sherman SL
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801365
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485183%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
language of work or name
English
0 references
publication date
1 November 1995
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801365
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485183%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801365
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485183%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
volume
57
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801365
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485183%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
issue
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801365
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485183%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
page(s)
991-993
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801365
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485183%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
cites work
Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate
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=1801365
retrieved
27 May 2018
Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X 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=1801365
retrieved
27 May 2018
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases
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=1801365
retrieved
27 May 2018
Frequency and stability of the fragile X premutation.
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=1801365
retrieved
27 May 2018
Length of uninterrupted CGG repeats determines instability in the FMR1 gene
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=1801365
retrieved
27 May 2018
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
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=1801365
retrieved
27 May 2018
Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation
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=1801365
retrieved
27 May 2018
An n-allele model for progressive amplification in the FMR1 locus
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=1801365
retrieved
27 May 2018
Variability of the genetic contribution of Quebec population founders associated to some deleterious genes.
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=1801365
retrieved
27 May 2018
FMR1 protein: conserved RNP family domains and selective RNA binding
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=1801365
retrieved
27 May 2018
Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X 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=1801365
retrieved
27 May 2018
Absence of expression of the FMR-1 gene in fragile X 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=1801365
retrieved
27 May 2018
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
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=1801365
retrieved
27 May 2018
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X 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=1801365
retrieved
27 May 2018
DNA methylation represses FMR-1 transcription in fragile X 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=1801365
retrieved
27 May 2018
Striking founder effect for the fragile X syndrome in Finland.
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=1801365
retrieved
16 August 2018
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.
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=1801365
retrieved
16 August 2018
Precursor arrays for triplet repeat expansion at the fragile X locus
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7485183
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMC publication ID
1801365
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801365
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485183%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
PubMed publication ID
7485183
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801365
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485183%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
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