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DNA Repair|March 20, 2016
A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patientsFernando Morales, Melissa Vásquez, Carolina Santamaría, et al.
Human Molecular Genetics|June 21, 2019
Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypesGayle Overend, Cécilia Légaré, Jean Mathieu, et al.
Human Molecular Genetics|February 28, 2012
High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutationsCatherine F Higham, Fernando Morales, Christina A Cobbold, et al.
Mutation Research|April 12, 2002
Detection of radiation and cyclophosphamide-induced mutations in individual mouse sperm at a human expanded trinucleotide repeat locus transgeneYun Zhang, Darren G Monckton, Michael J Siciliano, et al.
Human Molecular Genetics|June 17, 2004
Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansionMário Gomes-Pereira, M Teresa Fortune, Laura Ingram, et al.
Human Molecular Genetics|April 4, 2002
Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse spermYun Zhang, Darren G Monckton, Michael J Siciliano, et al.
DNA Repair|February 13, 2007
Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington diseaseNicola J Veitch, Margaret Ennis, John P McAbney, et al.
Human Molecular Genetics|November 15, 2006
Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragilityJeremy D Rhodes, Darren G Monckton, John P McAbney, et al.
HGG Advances|August 8, 2022
A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestryJessica Dawson, Fiona K Baine-Savanhu, Marc Ciosi, et al.
Neurology. Genetics|July 24, 2019
DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1Cécilia Légaré, Gayle Overend, Simon-Pierre Guay, et al.
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