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Page 1
Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.
Hwang YT, Dudding T, Aliaga SM, Arpone M, Francis D, Li X, Slater HR, Rogers C, Bretherton L, du Sart D, Heard R, Godler DE. Hwang YT, et al. Among authors: aliaga sm. Genes (Basel). 2016 Sep 21;7(9):68. doi: 10.3390/genes7090068. Genes (Basel). 2016. PMID: 27657133 Free PMC article.
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.
Arpone M, Baker EK, Bretherton L, Bui M, Li X, Whitaker S, Dissanayake C, Cohen J, Hickerton C, Rogers C, Field M, Elliott J, Aliaga SM, Ling L, Francis D, Hearps SJC, Hunter MF, Amor DJ, Godler DE. Arpone M, et al. Among authors: aliaga sm. Sci Rep. 2018 Feb 26;8(1):3644. doi: 10.1038/s41598-018-21990-x. Sci Rep. 2018. PMID: 29483611 Free PMC article.
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
Baker EK, Arpone M, Aliaga SM, Bretherton L, Kraan CM, Bui M, Slater HR, Ling L, Francis D, Hunter MF, Elliott J, Rogers C, Field M, Cohen J, Cornish K, Santa Maria L, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE. Baker EK, et al. Among authors: aliaga sm. Mol Autism. 2019 May 3;10:21. doi: 10.1186/s13229-019-0271-7. eCollection 2019. Mol Autism. 2019. PMID: 31073396 Free PMC article.
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
Field M, Dudding-Byth T, Arpone M, Baker EK, Aliaga SM, Rogers C, Hickerton C, Francis D, Phelan DG, Palmer EE, Amor DJ, Slater H, Bretherton L, Ling L, Godler DE. Field M, et al. Among authors: aliaga sm. Int J Mol Sci. 2019 Aug 11;20(16):3907. doi: 10.3390/ijms20163907. Int J Mol Sci. 2019. PMID: 31405222 Free PMC article.
FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile.
Santa María L, Pugin A, Alliende MA, Aliaga S, Curotto B, Aravena T, Tang HT, Mendoza-Morales G, Hagerman R, Tassone F. Santa María L, et al. Clin Genet. 2014 Oct;86(4):378-82. doi: 10.1111/cge.12278. Epub 2013 Oct 13. Clin Genet. 2014. PMID: 24028275 Free PMC article.
15 results