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Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

Author

Irena Hausmanowa-Petrusewicz

1917 - 2015

Published in: Nature Genetics

Date of publication: 1992-12-01

Language: anglais

Main subject: genotype-phenotype correlation, phénotype, séquence répétée

Bibliographic databases:

Cites articles 19

Date

Title

Authors

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Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait
1982-11-01

X-linked recessive bulbospinal neuronopathy: a report of ten cases

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A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure
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Localization of the gene for X-linked spinal muscular atrophy
1991-07-01

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
1991-12-20

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox,Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991-08-01

Absence of expression of the FMR-1 gene in fragile X syndrome
1991-06-01

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
1991-05-01

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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1992-02-01

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member
1992-02-06

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
1992-06-01

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
1992-02-01

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
1992-03-01

An unstable triplet repeat in a gene related to myotonic muscular dystrophy
1992-03-01

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene
1992-02-01

Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups
1992-07-01

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy
1992-04-01

Heritable unstable DNA sequences
1992-05-01

Triplet repeat mutations in human disease

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