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English
Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
title
Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree
(English)
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
author
Elizabeth Pintado
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
Abdelkrim Hmadcha
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
author name string
Y de Diego
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
M Carrasco
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
J Sierra
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
M Lucas
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
language of work or name
English
0 references
publication date
1 November 1995
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
volume
32
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
page(s)
907-908
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
issue
11
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
cites work
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=1051748
retrieved
21 June 2018
Molecular analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex families
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=1051748
retrieved
21 June 2018
Quantitative comparison of FMR1 gene expression in normal and premutation 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=1051748
retrieved
21 June 2018
A simple salting out procedure for extracting DNA from human nucleated cells
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=1051748
retrieved
21 June 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=1051748
retrieved
21 June 2018
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
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=1051748
retrieved
21 June 2018
Transmitting males and carrier females in fragile X--revisited.
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=1051748
retrieved
30 October 2018
Sixth international workshop on the fragile X and X-linked mental retardation.
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=1051748
retrieved
30 October 2018
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
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=1051748
retrieved
30 October 2018
Identifiers
DOI
10.1136/JMG.32.11.907
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
PMCID
1051748
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
PubMed ID
8592340
1 reference
stated in
Europe PubMed Central
PMCID
1051748
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8592340%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 October 2019
ResearchGate publication ID
14608891
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