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Page 1
Finding FMR1 mosaicism in Fragile X syndrome.
Gonçalves TF, dos Santos JM, Gonçalves AP, Tassone F, Mendoza-Morales G, Ribeiro MG, Kahn E, Boy R, Pimentel MM, Santos-Rebouças CB. Gonçalves TF, et al. Among authors: dos santos jm, santos reboucas cb. 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.
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: dos santos jm. 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: dos santos jm, santos reboucas cb, dos santos sr. Mol Neurobiol. 2020 Sep;57(9):3671-3684. doi: 10.1007/s12035-020-01981-8. Epub 2020 Jun 20. Mol Neurobiol. 2020. PMID: 32564284
Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.
Santos-Rebouças CB, de Almeida LG, Belet S, Dos Santos SR, Ribeiro MG, da Silva AF, Medina-Acosta E, Dos Santos JM, Gonçalves AP, Bahia PR, Pimentel MM, Froyen G. Santos-Rebouças CB, et al. Among authors: dos santos jm, dos santos sr. J Hum Genet. 2015 Apr;60(4):207-11. doi: 10.1038/jhg.2015.1. Epub 2015 Feb 5. J Hum Genet. 2015. PMID: 25652354
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.
Abdala BB, Gonçalves AP, Dos Santos JM, Boy R, de Carvalho CMB, Grochowski CM, Krepischi ACV, Rosenberg C, Gusmão L, Pehlivan D, Pimentel MMG, Santos-Rebouças CB. Abdala BB, et al. Among authors: dos santos jm, santos reboucas cb. Eur J Med Genet. 2021 Dec;64(12):104367. doi: 10.1016/j.ejmg.2021.104367. Epub 2021 Oct 19. Eur J Med Genet. 2021. PMID: 34678473 Free article.
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.
Campos M Jr, Abdalla CB, Santos-Rebouças CB, dos Santos AV, Pestana CP, Domingues ML, dos Santos JM, Pimentel MM. Campos M Jr, et al. Among authors: santos reboucas cb, dos santos jm, dos santos av. Brain Dev. 2007 Jun;29(5):293-7. doi: 10.1016/j.braindev.2006.09.012. Epub 2006 Nov 3. Brain Dev. 2007. PMID: 17084570
Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil.
Abreu GM, Valença DC, Campos M Júnior, da Silva CP, Pereira JS, Araujo Leite MA, Rosso AL, Nicaretta DH, Vasconcellos LF, da Silva DJ, Della Coletta MV, Dos Santos JM, Gonçalves AP, Santos-Rebouças CB, Pimentel MM. Abreu GM, et al. Among authors: dos santos jm, santos reboucas cb. Neurosci Lett. 2016 Dec 2;635:67-70. doi: 10.1016/j.neulet.2016.10.040. Epub 2016 Oct 21. Neurosci Lett. 2016. PMID: 27777137
202 results