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Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age.
Mason AG, Tomé S, Simard JP, Libby RT, Bammler TK, Beyer RP, Morton AJ, Pearson CE, La Spada AR. Mason AG, et al. Among authors: tome s. Hum Mol Genet. 2014 Mar 15;23(6):1606-18. doi: 10.1093/hmg/ddt551. Epub 2013 Nov 3. Hum Mol Genet. 2014. PMID: 24191263 Free PMC article.
Non-radioactive detection of trinucleotide repeat size variability.
Tomé S, Nicole A, Gomes-Pereira M, Gourdon G. Tomé S, et al. PLoS Curr. 2014 Mar 6; doi: 10.1371/ PLoS Curr. 2014. PMID: 24611127 Free PMC article.
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, Gagnon C, Musova Z, Chitayat D, Shannon P, Mathieu J, Sermon K, Pearson CE. Barbé L, et al. Among authors: tome s. Am J Hum Genet. 2017 Mar 2;100(3):488-505. doi: 10.1016/j.ajhg.2017.01.033. Am J Hum Genet. 2017. PMID: 28257691 Free PMC article.
106 results