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Page 1
Finding FMR1 mosaicism in Fragile X syndrome.
Expert Rev Mol Diagn. 2016;16(4):501-7. doi: 10.1586/14737159.2016.1135739. Epub 2016 Feb 9.
Expert Rev Mol Diagn. 2016.
PMID: 26716517
Free PMC article.
CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.
Pretto DI, Mendoza-Morales G, Lo J, Cao R, Hadd A, Latham GJ, Durbin-Johnson B, Hagerman R, Tassone F.
Pretto DI, et al. Among authors: mendoza morales g.
J Med Genet. 2014 May;51(5):309-18. doi: 10.1136/jmedgenet-2013-102021. Epub 2014 Mar 3.
J Med Genet. 2014.
PMID: 24591415
Free PMC article.
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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. Among authors: mendoza morales g.
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.
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Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.
Yrigollen CM, Mendoza-Morales G, Hagerman R, Tassone F.
Yrigollen CM, et al. Among authors: mendoza morales g.
J Hum Genet. 2013 Aug;58(8):553-9. doi: 10.1038/jhg.2013.50. Epub 2013 Jun 6.
J Hum Genet. 2013.
PMID: 23739124
Free PMC article.
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A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male.
Sorensen PL, Basuta K, Mendoza-Morales G, Gane LW, Schneider A, Hagerman R, Tassone F.
Sorensen PL, et al. Among authors: mendoza morales g.
Am J Med Genet A. 2012 May;158A(5):1221-4. doi: 10.1002/ajmg.a.35293. Epub 2012 Apr 9.
Am J Med Genet A. 2012.
PMID: 22488807
Free PMC article.
No abstract available.
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