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Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes
scientific article published on 01 April 1998
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Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
review article
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Europe PubMed Central
title
Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
main subject
myotonic dystrophy
1 reference
based on heuristic
inferred from title
fragile X syndrome
1 reference
based on heuristic
inferred from title
author
Reinhard Stöger
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
author name string
S J Tapscott
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
T R Klesert
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
R J Widrow
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
C D Laird
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
publication date
1 April 1998
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
published in
Current Opinion in Genetics & Development
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
volume
8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
page(s)
245-253
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
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Further segregation analysis of the fragile X syndrome with special reference to transmitting males
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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
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The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission
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Genotype mosaicism in fragile X fetal tissues
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A possible case of delayed mutation in man
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Chromosome imprinting and the mammalian X chromosome
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Association of fragile X syndrome with delayed replication of the FMR1 gene
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A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication
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Characterization of the full fragile X syndrome mutation in fetal gametes
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Absence of expression of the FMR-1 gene in fragile X syndrome
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Translational suppression by trinucleotide repeat expansion at FMR1.
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Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family
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Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.
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A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood
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Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin
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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.
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The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy
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Minimal expression of myotonic dystrophy: a clinical and molecular analysis
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Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
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7 January 2021
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Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene
1 reference
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Crossref
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7 January 2021
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Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats
1 reference
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Crossref
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7 January 2021
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Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
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Crossref
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Unstable triplet repeat diseases.
1 reference
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Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Trinucleotide repeats affect DNA replication in vivo
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Normal levels of DM RNA and myotonin protein kinase in skeletal muscle from adult myotonic dystrophy (DM) patients.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and Processing
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of two nuclear proteins which bind to RNA CUG repeats: significance for myotonic dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification and expression of six family genes in mouse retina
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Structure, function and expression of a murine homeobox protein AREC3, a homologue of Drosophila sine oculis gene product, and implication in development
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
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Intracellular elemental composition of single muscle fibres in muscular dystrophy and dystrophia myotonica
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
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Electrophysiologic properties of intercostal muscle fibers in human neuromuscular diseases
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
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Sodium Channel and Sodium Pump in Normal and Pathological Muscles from Patients with Myotonic Muscular Dystrophy and Lower Motor Neuron Impairment
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
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Excessive plasma K+ increase after ischemic exercise in myotonic muscular dystrophy
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
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Deficiency of Na+/K(+)-ATPase and sarcoplasmic reticulum Ca(2+)-ATPase in skeletal muscle and cultured muscle cells of myotonic dystrophy patients
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary cataract of the Nakano mouse
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy: will the real gene please step forward!
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Genomic organization and transcriptional units at the myotonic dystrophy locus
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A study of DNA methylation in myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proximal myotonic myopathy: mini-review of a recently delineated clinical disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy phenotype without expansion of (CTG)n repeat: An entity distinct from proximal myotonic myopathy (PROMM)?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nucleosome assembly on CTG triplet repeats
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Long CCG triplet repeat blocks exclude nucleosomes: a possible mechanism for the nature of fragile sites in chromosomes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The [(G/C)3NN]n motif: a common DNA repeat that excludes nucleosomes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structural and functional characterization of the human FMR1 promoter reveals similarities with the hnRNP-A2 promoter region.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Absence of chromosome fragility at 19q13.3 in patients with myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inability to induce fragile sites at CTG repeats in congenital myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expansion and length-dependent fragility of CTG repeats in yeast
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The identification of a (CGG)6AGG insertion within the CGG repeat of the FMR1 gene in Asians
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequence analysis of long FMR1 arrays in the Japanese population: insights into the generation of long (CGG)n tracts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Precursor arrays for triplet repeat expansion at the fragile X locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980148-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0959-437X(98)80148-2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
PubMed publication ID
9610417
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9610417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610417%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
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