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English
Genetic anticipation. Expanding tandem repeats.
scientific article published on November 1994
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
7845337
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7845337%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
review article
1 reference
stated in
Europe PubMed Central
title
Genetic anticipation. Expanding tandem repeats
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
7845337
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7845337%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
main subject
tandem repeat
1 reference
based on heuristic
inferred from title
author name string
Carpenter NJ
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
7845337
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7845337%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
publication date
1 November 1994
1 reference
stated in
Europe PubMed Central
PubMed ID
7845337
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7845337%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
published in
Neurologic Clinics
1 reference
stated in
Europe PubMed Central
PubMed ID
7845337
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7845337%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
volume
12
1 reference
stated in
Europe PubMed Central
PubMed ID
7845337
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7845337%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
7845337
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7845337%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
page(s)
683-697
1 reference
stated in
Europe PubMed Central
PubMed ID
7845337
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7845337%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
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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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Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy
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Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation
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Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.
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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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Kennedy disease in an Italian kindred
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A polymorphic DNA marker genetically linked to Huntington's disease
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Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies
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Genetic aspects of autosomal dominant late onset cerebellar ataxia
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Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
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Anticipation in myotonic dystrophy: fact or fiction?
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Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation
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The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy
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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.
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Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.
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Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
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Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
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Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene
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Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers
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Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation
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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
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Neuroanatomy of fragile X syndrome: the posterior fossa
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Psychiatric disability in female carriers of the fragile X chromosome.
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Human genes containing polymorphic trinucleotide repeats
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Fragile site Xq27.3 in a family without mental retardation
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Genes with triplet repeats: candidate mediators of neuropsychiatric disorders
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Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
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Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number
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Androgen concentration in motor neurons of cranial nerves and spinal cord
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Direct detection of novel expanded trinucleotide repeats in the human genome
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Further segregation analysis of the fragile X syndrome with special reference to transmitting males
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X-linked recessive bulbospinal neuronopathy. A clinicopathological study
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Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15.
1 reference
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7 January 2021
based on heuristic
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DNA methylation represses FMR-1 transcription in fragile X syndrome
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based on heuristic
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Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium
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7 January 2021
based on heuristic
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Characterisation of a new rare fragile site easily confused with the fragile X
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7 January 2021
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Instability versus predictability: the molecular diagnosis of myotonic dystrophy
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7 January 2021
based on heuristic
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Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.
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7 January 2021
based on heuristic
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Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
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https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930071-9
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7 January 2021
based on heuristic
inferred from DOI database lookup
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
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930071-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930071-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked spinal muscular atrophy (Kennedy's syndrome). A kindred with hypobetalipoproteinemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930071-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Population incidence and segregation ratios in the Martin-Bell syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930071-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygotes for Huntington's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930071-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
opa: a novel family of transcribed repeats shared by the Notch locus and other developmentally regulated loci in D. melanogaster
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930071-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Fra(X) syndrome: neurological, electrophysiological, and neuropathological abnormalities.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930071-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Letter: Hereditary ataxia and HL-A genotypes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930071-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fragile X genotype characterized by an unstable region of DNA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930071-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930071-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0733-8619(18)30071-9
1 reference
stated in
Europe PubMed Central
PubMed ID
7845337
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7845337%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
PubMed ID
7845337
1 reference
stated in
Europe PubMed Central
PubMed ID
7845337
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7845337%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
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