Publicações
- FABBRI-SCARLLET, H; WERNER, R; SANCHES-GUARAGNA M; ANDRADE JGR; MACIEL-GUERRA, A. T.; HORNIG, N; HIORT, O; GUERRA-JUNIOR, G.; DE MELLO, MP. Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development? Sexual Development, p. 1-9, 2022. DOI: 10.1159/000524956
- WATANABE, A*; GUARAGNA, MS*; BELANGERO, VMS; CASIMIRO, FMS; PESQUERO, JB; FELTRAN, LS; PALMA, LM; VARELA, P; NEVES, PDMM; LERARIO, AM; SOUZA, ML; DE MELLO, MP; LUTAIF, AC; FERRARI, CR; SAMPSON, MG; ONUCHIC, LF; NOGUEIRA, PCK. APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses. Pediatric Nephrology , v. 1, p. 1-0, 2021. (*1a autoria compartilhada) DOI: 10.1007/s00467-021-04960-w
- GUARAGNA, MS.; DE SOUZA, MARCELA L.; LUTAIF, ANNA CRISTINA G.B.; MACIEL-GUERRA, ANDRÉA T.; BELANGERO, V.M.S.; GUERRA-JUNIOR, GIL; MELLO, M.P. Promises and Pitfalls of Whole-Exome Sequencing Exemplified by a Nephrotic Syndrome Family. Mol. Genet Genomics 2020 Jan;295(1):135-142. DOI: 10.1007/s00438-019-01609-0
- KARLSSON, L.; MICHELATTO, D. P. ; LUSA, A. L. G.; SILVA, CDAM; ÖSTBERG L; PERSSON, B.; GUERRA-JÚNIOR, GIL; LEMOS-MARINI, S. H. V.; BALDAZZI, L; MENABÒ, S; BALSAMO, A.; GREGGIO, N. A.; DE MELLO, M.P.; BARBARO M; LAJIC S. Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia. Clinical Biochemistry v. 73, p. 50-56, 2019. DOI: 10.1016/j.clinbiochem.2019.07.009
- FABBRI-SCALLET, HELENA; SOUSA, LIZANDRA MAIA; MACIEL-GUERRA, ANDRÉA TREVAS; GUERRA-JÚNIOR, GIL; DE MELLO, MARICILDA PALANDI. Mutation update for the gene involved in DSD and infertility. Human Mutation 2019; 1-11. DOI: 10.1002/humu.23916
- FABBRI, H. C. ; DE MELLO, MARICILDA PALANDI ; GUERRA-JÚNIOR, GIL ; MACIEL-GUERRA, ANDRÉA TREVAS ; ANDRADE JGR ; MAIA COSTA DE QUEIROZ, C ; MONLLEO, I. L. ; STRUVE, D ; HIORT, O ; WERNER, R . Functional Characterization of Five NR5A1 Gene Mutations Found in Patients with 46,XY Disorders of Sex Development. HUMAN MUTATION, v. 39, p. 114-123, 2018. DOI: 10.1002/humu.23353
- GUARAGNA, MS.; ANNA CRISTINA G.B. LUTAIF; CRISTIANE S.C. PIVETA; MARCELA L. SOUZA; SUÉLLEN R. DE SOUZA; TACIANE B. HENRIQUES; ANDRÉA T. MACIEL-GUERRA; VERA M.S. BELANGERO; GIL GUERRA-JUNIOR; Maricilda P. De Mello. NPHS2 mutations account for only 15% of Nephrotic Syndrome cases. BMC Medical Genetics 2015 Sep 29;16:88. DOI: 10.1186/s12881-015-0231-9