| 408 cases of genital ambiguity followed by single multidisciplinary team during 23 years: etiologic diagnosis and sex of rearing GB De Paula, BA Barros, S Carpini, BJ Tincani, TN Mazzola, ... International journal of endocrinology 2016 (1), 4963574, 2016 | 38 | 2016 |
| Frasier syndrome: four new cases with unusual presentations MS Guaragna, ACGB Lutaif, VB Bittencourt, CSC Piveta, FC Soardi, ... Arquivos Brasileiros de Endocrinologia & Metabologia 56, 525-532, 2012 | 31 | 2012 |
| Clinical and genetic findings of five patients with WT1-related disorders JGR Andrade, MS Guaragna, FC Soardi, G Guerra-Júnior, MP Mello, ... Arquivos Brasileiros de Endocrinologia & Metabologia 52, 1236-1243, 2008 | 30 | 2008 |
| NPHS2 mutations account for only 15 % of nephrotic syndrome cases MS Guaragna, ACGB Lutaif, CSC Piveta, ML Souza, SR de Souza, ... BMC medical genetics 16, 1-9, 2015 | 28 | 2015 |
| NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described MS Guaragna, TL Cleto, ML Souza, ACGB Lutaif, LCG de Castro, ... Nephrology 21 (9), 753-757, 2016 | 18 | 2016 |
| Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria MS Guaragna, ACGB Lutaif, CSC Piveta, VMS Belangero, ... Biochemical and biophysical research communications 441 (2), 371-376, 2013 | 17 | 2013 |
| The novel WT1 gene mutation p. H377N associated to Denys-Drash syndrome MS Guaragna, FC Soardi, JG Assumpcao, LJG Zambaldi, IA Cardinalli, ... Journal of Pediatric Hematology/Oncology 32 (6), 486-488, 2010 | 17 | 2010 |
| NPHS2 Mutations: A Closer Look to Latin American Countries MS Guaragna, ACGB Lutaif, AT Maciel-Guerra, VMS Belangero, ... BioMed Research International 2017 (1), 7518789, 2017 | 15 | 2017 |
| APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses A Watanabe, MS Guaragna, VMS Belangero, FMS Casimiro, JB Pesquero, ... Pediatric Nephrology 36, 2327-2336, 2021 | 12 | 2021 |
| Can non-coding NR5A1 gene variants explain phenotypes of disorders of sex development? H Fabbri-Scallet, R Werner, MS Guaragna, JGR de Andrade, ... Sexual Development 16 (4), 252-260, 2022 | 7 | 2022 |
| Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service MSE Beck, CW Germano, BA Barros, JGR Andrade, G Guaragna-Filho, ... Jornal de pediatria 96 (5), 607-613, 2020 | 7 | 2020 |
| Brazilian network of pediatric nephrotic syndrome (REBRASNI) LS Feltran, A Watanabe, MS Guaragna, IC Machado, FMS Casimiro, ... Kidney international reports 5 (3), 358-362, 2020 | 6 | 2020 |
| A search for disorders of sex development among infertile men RS Yabiku, MS Guaragna, LM de Sousa, H Fabbri-Scallet, TN Mazzola, ... Sexual Development 12 (6), 275-280, 2018 | 6 | 2018 |
| WT1 haploinsufficiency supports milder renal manifestation in two patients with Denys-drash syndrome MS Guaragna, JG Ribeiro de Andrade, B de Freitas Carli, V Belangero, ... Sexual Development 11 (1), 34-39, 2017 | 6 | 2017 |
| Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family MS Guaragna, ACG de Brito Lutaif, ML de Souza, AT Maciel-Guerra, ... Molecular Genetics and Genomics 295 (1), 135-142, 2020 | 4 | 2020 |
| SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism FM de Oliveira, BA Barros, AP Dos Santos, NLV Campos, TN Mazzola, ... American Journal of Medical Genetics Part A 191 (2), 592-598, 2023 | 3 | 2023 |
| Syndromic Retinitis Pigmentosa: A 15-Patient Study IP Holanda, PHH Rim, Rare Genomes Project Consortium, MS Guaragna, ... Genes 15 (4), 516, 2024 | 2 | 2024 |
| Bilateral Wilms’ tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region MS Guaragna, FL Ledesma, VZ Manzano, AT Maciel-Guerra, ... Journal of Pediatric Endocrinology and Metabolism 35 (6), 837-843, 2022 | 2 | 2022 |
| DHX37 and the implications in Disorders of Sex Development: an update review FR de Oliveira, MS Guaragna, AT Maciel-Guerra, BA Barros, MP de Mello, ... Horm Res Paediatr, 1-12, 2023 | 1 | 2023 |
| Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study L Riccetto, TP Vieira, NL Viguetti-Campos, TN Mazzola, MS Guaragna, ... Sao Paulo Medical Journal 141 (4), e2022281, 2022 | 1 | 2022 |
