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De novo unbalanced translocations have a complex history/aetiology.
Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. Bonaglia MC, et al. Among authors: goncalves ap. Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1. Hum Genet. 2018. PMID: 30276538 Clinical Trial.
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: goncalves ap. 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
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: goncalves ap. 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: goncalves ap. Front Genet. 2020 Mar 4;11:101. doi: 10.3389/fgene.2020.00101. eCollection 2020. Front Genet. 2020. PMID: 32194616 Free PMC article.
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: goncalves ap. 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.
171 results