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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: perrone e. 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
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: perrone e. 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.
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: perrone e. 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
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: perrone e. Mol Syndromol. 2021 Aug;12(5):312-320. doi: 10.1159/000516323. Epub 2021 Jul 15. Mol Syndromol. 2021. PMID: 34602959 Free PMC article.
A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient.
Perrone E, Chen K, Ramos M, Milanezi MF, Nakano V, Falconi A, Silva J, Campos J, Silva CMC, Filho JBO, Perez ABA. Perrone E, et al. Mol Syndromol. 2018 May;9(3):159-163. doi: 10.1159/000488573. Epub 2018 Apr 25. Mol Syndromol. 2018. PMID: 29928182 Free PMC article.
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Quaio CRDC, Ceroni JRM, Pereira MA, Teixeira ACB, Yamada RY, Cintra VP, Perrone E, De França M, Chen K, Minillo RM, Biondo CA, de Mello MRB, Moura LR, do Nascimento ATB, de Oliveira Pelegrino K, de Lima LB, do Amaral Virmond L, Moreno CA, Prota JRM, de Araujo Espolaor JG, Silva TYT, Moraes GHI, de Oliveira GS, Moura LMS, Caraciolo MP, Guedes RLM, Gretschischkin MC, Chazanas PLN, Nakamura CNI, de Souza Reis R, Toledo CM, Lage FSD, de Almeida GB, do Nascimento Júnior JB, Cardoso MA, de Paula Azevedo V, de Almeida TF, Cervato MC, de Oliveira Filho JB. Quaio CRDC, et al. Among authors: perrone e. Hum Genomics. 2023 Nov 16;17(1):102. doi: 10.1186/s40246-023-00549-6. Hum Genomics. 2023. PMID: 37968704 Free PMC article.
222 results