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APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses.
Watanabe A, Guaragna MS, Belangero VMS, Casimiro FMS, Pesquero JB, de Santis Feltran L, Palma LMP, Varela P, de Menezes Neves PDM, Lerario AM, de Souza ML, de Mello MP, de Brito Lutaif ACG, Ferrari CR, Sampson MG, Onuchic LF, Nogueira PCK. Watanabe A, et al. Among authors: de menezes neves pdm, de santis feltran l, de mello mp, de brito lutaif acg, de souza ml. Pediatr Nephrol. 2021 Aug;36(8):2327-2336. doi: 10.1007/s00467-021-04960-w. Epub 2021 Feb 14. Pediatr Nephrol. 2021. PMID: 33585978
The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome.
Guaragna MS, Soardi FC, Assumpção JG, Zambaldi Lde J, Cardinalli IA, Yunes JA, de Mello MP, Brandalise SR, Aguiar Sdos S. Guaragna MS, et al. Among authors: de mello mp. J Pediatr Hematol Oncol. 2010 Aug;32(6):486-8. doi: 10.1097/MPH.0b013e3181e5e20d. J Pediatr Hematol Oncol. 2010. PMID: 20562648
NPHS2 mutations account for only 15% of nephrotic syndrome cases.
Guaragna MS, Lutaif AC, Piveta CS, Souza ML, de Souza SR, Henriques TB, Maciel-Guerra AT, Belangero VM, Guerra-Junior G, De Mello MP. Guaragna MS, et al. Among authors: de mello mp, de souza sr. BMC Med Genet. 2015 Sep 29;16:88. doi: 10.1186/s12881-015-0231-9. BMC Med Genet. 2015. PMID: 26420286 Free PMC article.
NPHS2 Mutations: A Closer Look to Latin American Countries.
Guaragna MS, Lutaif ACGB, Maciel-Guerra AT, Belangero VMS, Guerra-Júnior G, De Mello MP. Guaragna MS, et al. Among authors: de mello mp. Biomed Res Int. 2017;2017:7518789. doi: 10.1155/2017/7518789. Epub 2017 Jul 12. Biomed Res Int. 2017. PMID: 28785586 Free PMC article. Review.
Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family.
Guaragna MS, de Brito Lutaif ACG, de Souza ML, Maciel-Guerra AT, Belangero VMS, Guerra-Júnior G, de Mello MP. Guaragna MS, et al. Among authors: de mello mp, de brito lutaif acg, de souza ml. Mol Genet Genomics. 2020 Jan;295(1):135-142. doi: 10.1007/s00438-019-01609-0. Epub 2019 Sep 13. Mol Genet Genomics. 2020. PMID: 31520189
103 results