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Page 1
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.
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: goncalves ap. 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
rs3851179 Polymorphism at 5' to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population.
Santos-Rebouças CB, Gonçalves AP, Dos Santos JM, Abdala BB, Motta LB, Laks J, de Borges MB, de Rosso ALZ, Pereira JS, Nicaretta DH, Pimentel MMG. Santos-Rebouças CB, et al. Among authors: goncalves ap. Neuromolecular Med. 2017 Sep;19(2-3):293-299. doi: 10.1007/s12017-017-8444-z. Epub 2017 May 31. Neuromolecular Med. 2017. PMID: 28567584
Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.
da Silva CP, de M Abreu G, Cabello Acero PH, Campos M Júnior, Pereira JS, de A Ramos SR, Nascimento CM, Voigt DD, Rosso AL, Araujo Leite MA, Vasconcellos LFR, Nicaretta DH, Della Coletta MV, da Silva DJ, Gonçalves AP, Dos Santos JM, Calassara V, Valença DCT, de M Martins CJ, Santos-Rebouças CB, Pimentel MMG. da Silva CP, et al. Among authors: goncalves ap. J Neurol Sci. 2017 Oct 15;381:160-164. doi: 10.1016/j.jns.2017.08.3249. Epub 2017 Aug 24. J Neurol Sci. 2017. PMID: 28991672
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.
175 results