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Page 1
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: fornari ards. 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.
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: fornari ards. 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: fornari ards. 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
Interim Guidance for Urodynamic Practice during COVID-19 Pandemic.
Figueiredo AA, Fernandes A, Fornari A, Campos AF, Martins MHT, Haruta CM, Almeida SHM, de Toledo LGM, Moser DC, Tomé ALF, Averbeck MA, Gomes CM. Figueiredo AA, et al. Int Braz J Urol. 2021 Jan-Feb;47(1):178-184. doi: 10.1590/S1677-5538.IBJU.2020.0671. Int Braz J Urol. 2021. PMID: 33047923 Free PMC article. No abstract available.
Overactive bladder - 18 years - Part I.
Truzzi JC, Gomes CM, Bezerra CA, Plata IM, Campos J, Garrido GL, Almeida FG, Averbeck MA, Fornari A, Salazar A, Dell'Oro A, Cintra C, Sacomani CA, Tapia JP, Brambila E, Longo EM, Rocha FT, Coutinho F, Favre G, Garcia JA, Castano J, Reyes M, Leyton RE, Ferreira RS, Duran S, Lopez V, Reges R. Truzzi JC, et al. Int Braz J Urol. 2016 Mar-Apr;42(2):188-98. doi: 10.1590/S1677-5538.IBJU.2015.0365. Int Braz J Urol. 2016. PMID: 27176184 Free PMC article. Review.
Overactive bladder - 18 years - Part II.
Truzzi JC, Gomes CM, Bezerra CA, Plata IM, Campos J, Garrido GL, Almeida FG, Averbeck MA, Fornari A, Salazar A, Dell'Oro A, Cintra C, Sacomani CA, Tapia JP, Brambila E, Longo EM, Rocha FT, Coutinho F, Favre G, Garcia JA, Castano J, Reyes M, Leyton RE, Ferreira RS, Duran S, Lopez V, Reges R. Truzzi JC, et al. Int Braz J Urol. 2016 Mar-Apr;42(2):199-214. doi: 10.1590/S1677-5538.IBJU.2015.0367. Int Braz J Urol. 2016. PMID: 27176185 Free PMC article. Review.
Urethral Prolapse: A Case Series and Literature Review.
Fornari A, Gressler M, Murari JCL. Fornari A, et al. J Obstet Gynaecol India. 2020 Apr;70(2):158-162. doi: 10.1007/s13224-019-01288-2. Epub 2019 Oct 31. J Obstet Gynaecol India. 2020. PMID: 32255955 Free PMC article.
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