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Reginaldo José Petroli

Observed names: Petroli, R.J., Petroli, Reginaldo José, R. Petroli, Reginaldo J Petroli, Reginaldo J. Petroli, Reginaldo Jose Petroli
OpenAlex ID: A5080634770
The novel p.Cys65Tyr mutation in NR5A1gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency
2014 · Helena Campos Fabbri, Juliana Gabriel Ribeiro de Andrade, et al. · BMC Medical Genetics · 38
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Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency
2011 · Nélio Neves Veiga-Junior, Pedro Augusto Rodrigues Medaets, et al. · International Journal of Endocrinology · 32
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Novel deletion alleles carrying CYP21A1P/A2chimeric genes in Brazilian patients with 21-hydroxylase deficiency
2010 · Fernanda B Coeli, Fernanda C Soardi, et al. · BMC Medical Genetics · 22
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Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome
2017 · Reginaldo J. Petroli, Olaf Hiort, et al. · Sexual Development · 20
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene
2012 · Guilherme Guaragna-Filho, Carla Cristina Telles de Sousa Castro, et al. · Arquivos Brasileiros de Endocrinologia & Metabologia · 19
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Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family
2011 · Reginaldo J Petroli, Andréa T Maciel-Guerra, et al. · BMC Research Notes · 13
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Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor
2014 · Reginaldo J. Petroli, Olaf Hiort, et al. · Sexual Development · 12
Two Novel Mutations in the Thyroid Hormone Receptor β in Patients with Resistance to Thyroid Hormone (RTH β): Clinical, Biochemical, and Molecular Data
2015 · A. Esquiaveto-Aun, D. Zantut-Wittmann, et al. · Hormone and Metabolic Research · 5
Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development
2011 · Flávia Leme de Calais, Fernanda Caroline Soardi, et al. · International Journal of Molecular Sciences · 5
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Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis
2023 · Raquel Martinez Ramos, Reginaldo José Petroli, et al. · The Journal of Clinical Endocrinology & Metabolism · 3
So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity
2022 · Reinaldo Luna de Omena Filho, Reginaldo José Petroli, et al. · The Italian Journal of Pediatrics/Italian journal of pediatrics · 3
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Hydropathic AF‐2 variants in the androgen receptor gene among androgen insensitivity patients
2024 · Silvana Giuliatti, Anna Flavia Figueredo Benedetti, et al. · Andrology · 1
Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system
2015 · Ilanna Fragoso Peixoto Gazzaneo, Camila Maia Costa de Queiroz, et al. · Revista Paulista de Pediatria (English Edition) · 1
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Perfil de pacientes com anormalidades geniturinárias atendidos em serviço de genética clínica no sistema único de saúde
2015 · Ilanna Fragoso Peixoto Gazzaneo, Camila Maia Costa de Queiroz, et al. · Revista Paulista de Pediatria · 1
A Novel AR Splice-Site Variant Causing Complete Androgen Insensitivity Syndrome: Transcript Confirmation and Lessons for Splice Prediction
2026 · Raquel Martinez Ramos, Laura Silva Salvanini, et al. · Research Square
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Gonadectomia Profilática e Síndrome de Turner: uma indicação questionável
2025 · Gabriela Maria de Andrade Correia, Débora de Paula Michelatto, et al. · Revista Portal Saúde e Sociedade
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THU209 Small INDELs In The Androgen Receptor Gene: Phenotype Implications And Mechanisms Of Mutagenesis In Androgen Insensitivity Syndrome
2023 · Rafael Loch Batista, Raquel M Ramos, et al. · Journal of the Endocrine Society
Síndrome De Turner: Uma Abordagem Multidisciplinar
2023 · Silva, Rayane Ferreira da, Silva, Heloísa Cristina da, et al. · Gep News
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Investigação De Marcadores De Cromossomo Y Em Pacientes Com Síndrome De Turner
2021 · Heloísa Silva, Francielle Dutra, et al.
Interview script with parents and patients
2021 · Filho, Reinaldo Omena, Pontual, Marina, et al. · Figshare
Investigação De Cromossomo Y Em Casos De Síndrome De Turner Em Alagoas
2020 · Rayane Ferreira da Silva, Susane Vasconcelos Zanotti, et al. · Gep News
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Investigação De Mutações No Gene Cyp21a2 Em Famílias Afetadas Por Hiperplasia Adrenal Congênita Em Alagoas
2019 · Rayane Ferreira da Silva, Gustavo Maffra Monteiro, et al. · Gep News
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Mutações no Gene CYP21A2 Analisadas Através da Reação da Polimerase em Cadeia
2019 · Gustavo Maffra Monteiro, Carlos Virgílio Rocha de Sousa Silva, et al. · Revista Portal Saúde e Sociedade
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Padronização da técnica PCR alelo específico para investigação de mutações no gene CYP21A2
2018 · Aluísio Antônio Brito de Mesquita, Gustavo Maffra Monteiro, et al. · Gep News
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Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system
2018 · Ilanna Fragoso Peixoto Gazzaneo, Queiroz, Camila Maia Costa De, et al. · Figshare
Works count: 40
Citation count: 175
H-index: 7
I10-index: 7
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