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Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.
Santos-Rebouças CB, Boy R, Vianna EQ, Gonçalves AP, Piergiorge RM, Abdala BB, Dos Santos JM, Calassara V, Machado FB, Medina-Acosta E, Pimentel MMG. Santos-Rebouças CB, et al. Among authors: machado fb. Front Genet. 2020 Mar 4;11:101. doi: 10.3389/fgene.2020.00101. eCollection 2020. Front Genet. 2020. PMID: 32194616 Free PMC article.
Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.
Vianna EQ, Piergiorge RM, Gonçalves AP, Dos Santos JM, Calassara V, Rosenberg C, Krepischi ACV, Boy da Silva RT, Dos Santos SR, Ribeiro MG, Machado FB, Medina-Acosta E, Pimentel MMG, Santos-Rebouças CB. Vianna EQ, et al. Among authors: machado fb. Mol Neurobiol. 2020 Sep;57(9):3671-3684. doi: 10.1007/s12035-020-01981-8. Epub 2020 Jun 20. Mol Neurobiol. 2020. PMID: 32564284
Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.
Alves da Silva AF, Machado FB, Pavarino ÉC, Biselli-Périco JM, Zampieri BL, da Silva Francisco Junior R, Mozer Rodrigues PT, Terra Machado D, Santos-Rebouças CB, Gomes Fernandes M, Chuva de Sousa Lopes SM, Lopes Rios ÁF, Medina-Acosta E. Alves da Silva AF, et al. Among authors: machado fb. PLoS One. 2016 Apr 21;11(4):e0154108. doi: 10.1371/journal.pone.0154108. eCollection 2016. PLoS One. 2016. PMID: 27100087 Free PMC article.
5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation.
Machado FB, Machado FB, Faria MA, Lovatel VL, Alves da Silva AF, Radic CP, De Brasi CD, Rios ÁF, de Sousa Lopes SM, da Silveira LS, Ruiz-Miranda CR, Ramos ES, Medina-Acosta E. Machado FB, et al. PLoS One. 2014 Jul 31;9(7):e103714. doi: 10.1371/journal.pone.0103714. eCollection 2014. PLoS One. 2014. PMID: 25078280 Free PMC article.
86 results