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Page 1
A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis.
Guarischi-Sousa R, Kroll JE, Bonaldi A, Pierry PM, Villela D, Souza CA, Silva JS, Bürger MC, Oliveira FA, de Paula MG, Meliso FM, de Almeida LG, Monfredini PM, de Oliveira AG, Milanezi F, Scapulatempo-Neto C, Yamamoto GL. Guarischi-Sousa R, et al. Among authors: milanezi f. Diagnostics (Basel). 2023 Oct 24;13(21):3293. doi: 10.3390/diagnostics13213293. Diagnostics (Basel). 2023. PMID: 37958189 Free PMC article.
An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son.
Campos AE, Rosenberg C, Krepischi A, França M, Lopes V, Nakano V, Vertemati T, Cochak M, Migliavacca M, Milanezi F, Sousa AC, Silva J, Vieira L, Monfredini P, Palumbo AC, Fernandes J, Perrone E. Campos AE, et al. Among authors: milanezi f. Mol Syndromol. 2021 Aug;12(5):312-320. doi: 10.1159/000516323. Epub 2021 Jul 15. Mol Syndromol. 2021. PMID: 34602959 Free PMC article.
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: milanezi f. 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: milanezi f. 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: milanezi f. Ann Hum Genet. 2024 Mar;88(2):113-125. doi: 10.1111/ahg.12532. Epub 2023 Oct 9. Ann Hum Genet. 2024. PMID: 37807935
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. Among authors: milanezi f. 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
A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review.
Galvão de Oliveira M, Tengan C, Micheletti C, Ramos de Macedo P, Soares Pinho Cernach MC, Cavole TR, de França Basto M, Filho JS, Virmond LA, Milanezi F, Nakano V, Falconi A, Perrone E. Galvão de Oliveira M, et al. Among authors: milanezi f. Eur J Med Genet. 2021 May;64(5):104195. doi: 10.1016/j.ejmg.2021.104195. Epub 2021 Mar 18. Eur J Med Genet. 2021. PMID: 33746038 Review.
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.
Mazzonetto PC, Villela D, Krepischi ACV, Pierry PM, Bonaldi A, Almeida LGD, Paula MG, Bürger MC, de Oliveira AG, Fonseca GGG, Giugliani R, Riegel-Giugliani M, Bertola D, Yamamoto GL, Passos-Bueno MR, Campos GDS, Machado ACD, Mazzeu JF, Perrone E, Zechi-Ceide RM, Kokitsu-Nakata NM, Vieira TP, Steiner CE, Gil-da-Silva-Lopes VL, Vieira DKR, Boy R, de Pina-Neto JM, Scapulatempo-Neto C, Milanezi F, Rosenberg C. Mazzonetto PC, et al. Among authors: milanezi f. Am J Med Genet A. 2024 Nov;194(11):e63802. doi: 10.1002/ajmg.a.63802. Epub 2024 Jun 25. Am J Med Genet A. 2024. PMID: 38924610
75 results