| Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency NN Veiga-Junior, PAR Medaets, RJ Petroli, FL Calais, MP de Mello, ... International Journal of Endocrinology 2012, 2012 | 39 | 2012 |
| The novel p.Cys65Tyr mutation in NR5A1gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency HC Fabbri, JGR de Andrade, FC Soardi, FL De Calais, RJ Petroli, ... BMC medical genetics 15, 1-8, 2014 | 32 | 2014 |
| 46, XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene G Guaragna-Filho, CCTS Castro, RR De Carvalho, FB Coeli, LFC Ferraz, ... Arquivos Brasileiros de Endocrinologia & Metabologia 56, 578-585, 2012 | 21 | 2012 |
| Severe forms of partial androgen insensitivity syndrome due to p. L830F novel mutation in androgen receptor gene in a Brazilian family RJ Petroli, AT Maciel-Guerra, FC Soardi, FL de Calais, G Guerra-Junior, ... BMC research notes 4, 1-6, 2011 | 20 | 2011 |
| Novel deletion alleles carrying CYP21A1P/A2chimeric genes in Brazilian patients with 21-hydroxylase deficiency FB Coeli, FC Soardi, RD Bernardi, M de Araújo, LC Paulino, IF Lau, ... BMC Medical Genetics 11, 1-13, 2010 | 20 | 2010 |
| Functional impact of novel androgen receptor mutations on the clinical manifestation of androgen insensitivity syndrome RJ Petroli, O Hiort, D Struve, JK Gesing, FC Soardi, AM Spinola-Castro, ... Sexual Development 11 (5-6), 238-247, 2018 | 15 | 2018 |
| Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46, XY disorder of sex development FL de Calais, FC Soardi, RJ Petroli, ALG Lusa, RB de Paiva e Silva, ... International Journal of Molecular Sciences 12 (12), 9471-9480, 2011 | 10 | 2011 |
| Preserved fertility in a patient with gynecomastia associated with the p. Pro695Ser mutation in the androgen receptor RJ Petroli, O Hiort, D Struve, AT Maciel-Guerra, G Guerra-Júnior, ... Sexual Development 8 (6), 350-355, 2015 | 9 | 2015 |
| Two novel mutations in the thyroid hormone receptor β in patients with resistance to thyroid hormone (RTH β): clinical, biochemical, and molecular data AM Esquiaveto-Aun, DE Zantut-Wittmann, RJ Petroli, BSL Nakano, ... Hormone and Metabolic Research 47 (12), 889-894, 2015 | 6 | 2015 |
| Perfil de pacientes com anormalidades geniturinárias atendidos em serviço de genética clínica no sistema único de saúde IFP Gazzaneo, CMC Queiroz, LCV Goes, VJC Lessa, RL Omena Filho, ... Revista Paulista de Pediatria 34, 91-98, 2016 | 3 | 2016 |
| Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system IFP Gazzaneo, CMC Queiroz, LCV Goes, VJC Lessa, RL Omena Filho, ... Revista Paulista de Pediatria 34, 91-98, 2016 | 2 | 2016 |
| So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity RL de Omena Filho, RJ Petroli, FC Soardi, D de Paula Michelatto, ... Italian Journal of Pediatrics 48 (1), 89, 2022 | 1 | 2022 |
| INVESTIGAÇÃO DE CROMOSSOMO Y EM CASOS DE SÍNDROME DE TURNER EM ALAGOAS RF da Silva, SV Zanotti, IL Monlleo, RJ Petroli Gep News 2 (2), 55-65, 2020 | 1 | 2020 |
| Análise molecular do gene do receptor de androgenos em pacientes 46, XY com ambiguidade genital e produção normal de testosterona RJ Petroli Biblioteca Digital da Unicamp, 2010 | 1 | 2010 |
| Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis RM Ramos, RJ Petroli, NDR D’Alessandre, GDA Guardia, ACF Afonso, ... The Journal of Clinical Endocrinology & Metabolism 109 (1), 68-79, 2024 | | 2024 |
| THU209 Small INDELs In The Androgen Receptor Gene: Phenotype Implications And Mechanisms Of Mutagenesis In Androgen Insensitivity Syndrome RL Batista, RM Ramos, ACF Afonso, RJ Petroli, MY Nishi, ... Journal of the Endocrine Society 7 (Supplement_1), bvad114. 1460, 2023 | | 2023 |
| Mechanism of mutagenesis and phenotype implications of small indels in the Androgen Receptor gene in Androgen Insensitivity Syndrome RL Batista, R Ramos, AC Afonso, R Petroli, MT Ferrari, S Domenice, ... HORMONE RESEARCH IN PAEDIATRICS 96, 401-401, 2023 | | 2023 |
| SÍNDROME DE TURNER: UMA ABORDAGEM MULTIDISCIPLINAR RF da Silva, HC da Silva, DLL do Nascimento, D de Paula Michelatto, ... Gep News 7 (2), 256-261, 2023 | | 2023 |
| IDENTIFICATION AND IN SILICO CHARACTERIZATION OF THE P. L713P VARIANT ACTIVATION FUNCTION 2 (AF-2) REGION OF THE ANDROGEN RECEPTOR GENE IN A PARTIAL ANDROGEN INSENSITIVITY … A BENEDETTI, R RAMOS, S GIULIATTI, R PETROLI, S DOMENICE, ... KARGER, 2023 | | 2023 |
| So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity F RLdO, RJ Petroli, FC Soardi, M DdP, TN Mazzola, H Fabbri-Scallet, ... | | 2021 |
