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Reverse mutation in fragile X syndrome
scientific article published on January 1996
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
title
Reverse mutation in fragile X syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
main subject
fragile X syndrome
1 reference
based on heuristic
inferred from title
author name string
G Antiñolo
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
S Borrego
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
J C Cabeza
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
R Sánchez
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
J Sánchez
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
B Sánchez
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
language of work or name
English
0 references
publication date
1 January 1996
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
volume
58
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
issue
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
page(s)
237-239
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
cites work
Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.
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=1914937
retrieved
28 May 2018
Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins
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=1914937
retrieved
28 May 2018
Physical mapping across the fragile X: hypermethylation and clinical 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=1914937
retrieved
28 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=1914937
retrieved
28 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=1914937
retrieved
28 May 2018
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis
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=1914937
retrieved
28 May 2018
Methylation and mutation patterns in 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=1914937
retrieved
28 May 2018
Fragile-X syndrome: unique genetics of the heritable unstable element
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=1914937
retrieved
28 May 2018
On some technical aspects of direct DNA diagnosis 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=1914937
retrieved
28 May 2018
Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium
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=1914937
retrieved
28 May 2018
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.
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=1914937
retrieved
16 August 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=1914937
retrieved
16 August 2018
Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8554061
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8554061
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Twin studies in medical research: can they tell us whether diseases are genetically determined?
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8554061
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Diagnosis of fragile X syndrome by direct mutation analysis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8554061
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMC publication ID
1914937
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
PubMed publication ID
8554061
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554061%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
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