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Page 1
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Quaio CRDC, Moreira CM, Novo-Filho GM, Sacramento-Bobotis PR, Groenner Penna M, Perazzio SF, Dutra AP, da Silva RA, Santos MNP, de Arruda VYN, Freitas VG, Pereira VC, Pintao MC, Fornari ARDS, Buzolin AL, Oku AY, Burger M, Ramalho RF, Marco Antonio DS, E Ferreira EN, Pereira OJE, Cantagalli VD, Trindade ACG, de Sousa RRF, Reys Furuzawa C, Verzini F, Matalhana SD, Romano N, Paixão D, Olivati C, Spolador GM, Maciel GAR, Rocha VZ, Miguelez J, de Carvalho MHB, de Souza AWS, Andrade LEC, Chauffaille ML, Perazzio ADSB, Catelani ALPM, Mitne-Neto M, Kim CA, Baratela WADR. Quaio CRDC, et al. Among authors: olivati c. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):955-964. doi: 10.1002/ajmg.c.31860. Epub 2020 Nov 30. Am J Med Genet C Semin Med Genet. 2020. PMID: 33258288
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.
Quaio CRDC, Chung CH, Perazzio SF, Dutra AP, Moreira CM, Filho GMN, Sacramento-Bobotis PR, Penna MG, de Souza RRF, Cintra VP, Carnavalli JEP, da Silva RA, Paixão D, Baratela WADR, Olivati C, Spolador GM, Santos MNP, Pintao MC, Fornari ARDS, Burger M, Ramalho RF, Pereira OJE, E Ferreira EN, Mitne-Neto M, Kim CA. Quaio CRDC, et al. Among authors: olivati c. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):364-372. doi: 10.1002/ajmg.c.31932. Epub 2021 Jul 16. Am J Med Genet C Semin Med Genet. 2021. PMID: 34269512
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Quaio CRDC, Obando MJR, Perazzio SF, Dutra AP, Chung CH, Moreira CM, Novo Filho GM, Sacramento-Bobotis PR, Penna MG, Souza RRF, Cintra VP, Carnavalli JEP, Silva RAD, Santos MNP, Paixão D, Baratela WADR, Olivati C, Spolador GM, Pintao MC, Fornari ARDS, Burger M, Ramalho RF, Pereira OJE, Ferreira ENE, Mitne-Neto M, Kim CA. Quaio CRDC, et al. Among authors: olivati c. Genet Mol Biol. 2021 Sep 29;44(4):20210061. doi: 10.1590/1678-4685-GMB-2021-0061. eCollection 2021. Genet Mol Biol. 2021. PMID: 34609444 Free PMC article.
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms.
Olivati C, Favilla BP, Freitas EL, Santos B, Melaragno MI, Meloni VA, Piazzon F. Olivati C, et al. Mol Genet Metab Rep. 2022 May 7;31:100879. doi: 10.1016/j.ymgmr.2022.100879. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782622 Free PMC article.
Pheochromocytoma/Paraganglioma (PPGL): A Misdiagnosed Cause of Hypertension during Pregnancy.
Giorgi RB, Aroucha PT, Favreto TM, Montero MF, Velloni JMF, Korkes I, Ferreira EN, Olivati C, Lima JV Jr, Kater CE, Costa-Barbosa FA. Giorgi RB, et al. Among authors: olivati c. Case Rep Obstet Gynecol. 2024 Mar 27;2024:6655229. doi: 10.1155/2024/6655229. eCollection 2024. Case Rep Obstet Gynecol. 2024. PMID: 38572182 Free PMC article.
Influence of solvents on the morphology of Langmuir and Langmuir-Schaefer films of PCBM and PCBM-based oligomers and polymers.
Roncaselli LKM, Silva EA, Braunger ML, Ramanitra HH, Stephen M, Citolino LVL, Fernandes JD, Simõis AVS, Constantino CJL, Agostini DLS, Bégué D, Hiorns RC, Olivati CA. Roncaselli LKM, et al. Among authors: olivati ca. Phys Chem Chem Phys. 2022 May 25;24(20):12442-12456. doi: 10.1039/d1cp05408b. Phys Chem Chem Phys. 2022. PMID: 35575028
20 results