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Year Number of Results
2002 1
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2020 5
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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. 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
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Papendorf JJ, Ebstein F, Alehashemi S, Piotto DGP, Kozlova A, Terreri MT, Shcherbina A, Rastegar A, Rodrigues M, Pereira R, Park S, Lin B, Uss K, Möller S, da Silva Pina AF, Sztajnbok F, Torreggiani S, Niemela J, Stoddard J, Rosenzweig SD, Oler AJ, McNinch C, de Guzman MM, Fonseca A, Micheloni N, Fraga MM, Perazzio SF, Goldbach-Mansky R, de Jesus AA, Krüger E. Papendorf JJ, et al. Front Immunol. 2023 Aug 4;14:1190104. doi: 10.3389/fimmu.2023.1190104. eCollection 2023. Front Immunol. 2023. PMID: 37600812 Free PMC article.
Primary immunodeficiency association with systemic lupus erythematosus: review of literature and lessons learned by the Rheumatology Division of a tertiary university hospital at São Paulo, Brazil.
Errante PR, Perazzio SF, Frazão JB, da Silva NP, Andrade LE. Errante PR, et al. Rev Bras Reumatol Engl Ed. 2016 Jan-Feb;56(1):58-68. doi: 10.1016/j.rbre.2015.07.006. Epub 2015 Sep 1. Rev Bras Reumatol Engl Ed. 2016. PMID: 27267335 Free article. Review. English, Portuguese.
27 results