Trinucleotide repeat expansion - Open Access .click

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Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.

Proceedings of the National Academy of Sciences of the United States of America, 1997
Friedreich's ataxia, the most frequent inherited ataxia, is caused, in the vast majority of cases, by large GAA repeat expansions in the first intron of the frataxin gene.
M. Cossée +6 more
semanticscholar +1 more source

Relationship of Body Mass Index With Fuchs Endothelial Corneal Dystrophy Severity and TCF4 CTG18.1 Trinucleotide Repeat Expansion. [PDF]

Cornea, 2021
Kinariwala BB +9 more
europepmc +1 more source

Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A

Stem Cell Research, 2018
A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A ...
Stefanie Nicole Hayer +5 more
doaj

A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots

Frontiers in Genetics, 2018
Background:FMR1 CGG trinucleotide repeat hyper-expansions are observed in 99% of individuals with fragile X mental retardation syndrome (FXS). We evaluated the reliability of a rapid single-step gender-neutral molecular screen for FXS when performed on ...
Vivienne J. Tan +6 more
doaj +1 more source

Trinucleotide repeat expansions in familial/sporadic breast/ovarian cancer: searching for novel predisposition genes [PDF]