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Page 1
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Krepischi ACV, Villela D, da Costa SS, Mazzonetto PC, Schauren J, Migliavacca MP, Milanezi F, Santos JG, Guida G, Guarischi-Sousa R, Campana G, Kok F, Schlesinger D, Kitajima JP, Campagnari F, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Krepischi ACV, et al. Among authors: migliavacca mp. Sci Rep. 2022 Sep 7;12(1):15184. doi: 10.1038/s41598-022-19274-6. Sci Rep. 2022. PMID: 36071085 Free PMC article.
BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.
Mazzonetto P, Milanezi F, D'Andrea M, Martins S, Monfredini PM, Dos Santos Silva J, Perrone E, Villela D, Schnabel B, Nakano V, Palmero EI, Braggio E, Cavalcanti TL, Guida G, Migliavacca MP, Scapulatempo-Neto C, Zalcberg I. Mazzonetto P, et al. Among authors: migliavacca mp. Breast Cancer Res Treat. 2023 May;199(1):127-136. doi: 10.1007/s10549-023-06892-5. Epub 2023 Mar 7. Breast Cancer Res Treat. 2023. PMID: 36881271
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Mazzonetto PC, Villela D, da Costa SS, Krepischi ACV, Milanezi F, Migliavacca MP, Pierry PM, Bonaldi A, Almeida LGD, De Souza CA, Kroll JE, Paula MG, Guarischi-Sousa R, Scapulatempo-Neto C, Rosenberg C. Mazzonetto PC, et al. Among authors: migliavacca mp. Ann Hum Genet. 2024 Mar;88(2):113-125. doi: 10.1111/ahg.12532. Epub 2023 Oct 9. Ann Hum Genet. 2024. PMID: 37807935
Childhood-onset writer's cramp and cerebellar ataxia: A neurological conundrum.
Tonholo Silva TY, Villela D, Cavalcanti TTSL, Migliavacca MP, Pedroso JL, Barsottini OGP. Tonholo Silva TY, et al. Among authors: migliavacca mp. Parkinsonism Relat Disord. 2024 Jun;123:105947. doi: 10.1016/j.parkreldis.2023.105947. Epub 2023 Dec 14. Parkinsonism Relat Disord. 2024. PMID: 38151385 No abstract available.
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Migliavacca MP, Sobreira J, Bermeo D, Gomes M, Alencar D, Sussuchi L, Souza CA, Silva JS, Kroll JE, Burger M, Guarischi-Sousa R, Villela D, Yamamoto GL, Milanezi F, Horigoshi N, Cesar RG, de Carvalho WB, Honjo RS, Bertola DR, Kim CA, de Souza L, Procianoy RS, Silveria RC, Rosenberg C, Giugliani R, Campana GA, Scapulatempo-Neto C, Sobreira N. Migliavacca MP, et al. Am J Med Genet A. 2024 Jun;194(6):e63544. doi: 10.1002/ajmg.a.63544. Epub 2024 Jan 23. Am J Med Genet A. 2024. PMID: 38258498
Case 278.
Scortegagna FA, Pacheco FT, Nunes RH, Serpa A, Migliavacca MP, da Rocha AJ. Scortegagna FA, et al. Among authors: migliavacca mp. Radiology. 2020 Feb;294(2):476-477. doi: 10.1148/radiol.2019181239. Radiology. 2020. PMID: 31961782
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, de Rosso-Giuliani L, da Costa SS, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Villela D, et al. Among authors: migliavacca mp. Am J Med Genet A. 2021 Aug;185(8):2335-2344. doi: 10.1002/ajmg.a.62237. Epub 2021 May 14. Am J Med Genet A. 2021. PMID: 33988290
13 results