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168 results

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Page 1
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C, Loureiro T, Villela D, Bittencourt MI, Sobreira J, Bermeo D, Gomes M, Alencar D, de Castro LSS, Fock RA, Tinoco ML, Galvão H, Scapulatempo-Neto C, Schiavetti K, Senerchia AA, Gurgel MHC. Mendes C, et al. Among authors: scapulatempo neto c. Mol Genet Metab Rep. 2024 Jun 7;40:101100. doi: 10.1016/j.ymgmr.2024.101100. eCollection 2024 Sep. Mol Genet Metab Rep. 2024. PMID: 38933898 Free PMC article.
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: scapulatempo neto c. 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
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: scapulatempo neto c. 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 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: scapulatempo neto c. Diagnostics (Basel). 2023 Oct 24;13(21):3293. doi: 10.3390/diagnostics13213293. Diagnostics (Basel). 2023. PMID: 37958189 Free PMC article.
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: scapulatempo neto c. Ann Hum Genet. 2024 Mar;88(2):113-125. doi: 10.1111/ahg.12532. Epub 2023 Oct 9. Ann Hum Genet. 2024. PMID: 37807935
The digital expression profile of BMP7, CDKN2C, HIST1H3G, and PKMYT1 genes improves high-grade cervical lesion detection in liquid-based cytology.
Causin RL, Sussuchi da Silva L, Leal LF, Possati-Resende JC, Evangelista AF, Matsushita GM, Scapulatempo-Neto C, Tavares Guerreiro Fregnani JH, Antônio de Oliveira M, Musselwhite LW, Chiquitelli Marques MM, Reis RM. Causin RL, et al. Among authors: scapulatempo neto c. Cancer Cytopathol. 2023 Jul;131(7):454-464. doi: 10.1002/cncy.22704. Epub 2023 Apr 17. Cancer Cytopathol. 2023. PMID: 37069588 Free 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: scapulatempo neto c. 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
The Ring Study: an international comparison of PD-L1 diagnostic assays and their interpretation in non-small cell lung cancer, head and neck squamous cell cancer and urothelial cancer.
Yu SL, Hsiao YJ, Cooper WA, Choi YL, Avilés-Salas A, Chou TY, Coudry R, Raskin GA, Fox SB, Huang CC, Jeon YK, Ko YH, Ku WH, Kwon GY, Leslie C, Lin MC, Lou PJ, Scapulatempo-Neto C, Mendoza Ramírez S, Savelov N, Shim HS, Lara Torres CO, Cunha IW, Zavalishina L, Chen YM. Yu SL, et al. Among authors: scapulatempo neto c. Pathology. 2023 Feb;55(1):19-30. doi: 10.1016/j.pathol.2022.07.016. Epub 2022 Oct 1. Pathology. 2023. PMID: 36319485
168 results