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Fragile-X syndrome: unique genetics of the heritable unstable element
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
title
Fragile-X syndrome: unique genetics of the heritable unstable element
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
main subject
fragile X syndrome
1 reference
based on heuristic
inferred from title
author
Eric J Kremer
series ordinal
8
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
author name string
Yu S
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
Mulley J
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
Loesch D
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
Turner G
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
Donnelly A
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
Gedeon A
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
Hillen D
series ordinal
7
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
Lynch M
series ordinal
9
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
Pritchard M
series ordinal
10
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
language of work or name
English
0 references
publication date
1 May 1992
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
volume
50
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
issue
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
page(s)
968-980
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
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A highly polymorphic locus in human DNA
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Variation among human 28S ribosomal RNA genes
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28 July 2018
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
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Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation
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28 July 2018
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Fragile X genotype characterized by an unstable region of DNA.
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28 July 2018
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
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28 July 2018
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome
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28 July 2018
Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence
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Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site
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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
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28 July 2018
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
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Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome
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PubMed Central
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27 September 2018
The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X.
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27 September 2018
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Segregation analysis of rare autosomal fragile sites
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based on heuristic
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Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14
1 reference
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/1570846
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Genetic mapping of new RFLPs at Xq27–q28
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/1570846
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMC publication ID
1682586
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
PubMed publication ID
1570846
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682586
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 September 2019
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