Reginaldo José Petroli - Search Results

Year	Number of Results
2011	2
2012	2
2014	1
2015	1
2016	1
2022	1
2023	1
2024	0

1

Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis.

Ramos RM, Petroli RJ, D'Alessandre NDR, Guardia GA, Afonso ACF, Nishi MY, Domenice S, Galante PAF, Mendonca BB, Batista RL. Ramos RM, et al. Among authors: petroli rj. J Clin Endocrinol Metab. 2023 Dec 21;109(1):68-79. doi: 10.1210/clinem/dgad470. J Clin Endocrinol Metab. 2023. PMID: 37572362

2

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity.

de Omena Filho RL, Petroli RJ, Soardi FC, de Paula Michelatto D, Mazzola TN, Fabbri-Scallet H, de Mello MP, Zanotti SV, Gubert IC, Monlleo I. de Omena Filho RL, et al. Among authors: petroli rj. Ital J Pediatr. 2022 Jun 10;48(1):89. doi: 10.1186/s13052-022-01284-9. Ital J Pediatr. 2022. PMID: 35689291 Free PMC article.

3

Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.

Leme de Calais FL, Soardi FC, Petroli RJ, Lusa AL, de Paiva E Silva RB, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP. Leme de Calais FL, et al. Among authors: petroli rj. Int J Mol Sci. 2011;12(12):9471-80. doi: 10.3390/ijms12129471. Epub 2011 Dec 19. Int J Mol Sci. 2011. PMID: 22272144 Free PMC article.

4

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.

Guaragna-Filho G, Castro CC, Carvalho RR, Coeli FB, Ferraz LF, Petroli RJ, Mello MP, Sewaybricker LE, Lemos-Marini SH, D'Souza-Li LF, Miranda ML, Maciel-Guerra AT, Guerra-Junior G. Guaragna-Filho G, et al. Among authors: petroli rj. Arq Bras Endocrinol Metabol. 2012 Nov;56(8):578-85. doi: 10.1590/s0004-27302012000800020. Arq Bras Endocrinol Metabol. 2012. PMID: 23295302

5

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.

Fabbri HC, de Andrade JG, Soardi FC, de Calais FL, Petroli RJ, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP. Fabbri HC, et al. Among authors: petroli rj. BMC Med Genet. 2014 Jan 10;15:7. doi: 10.1186/1471-2350-15-7. BMC Med Genet. 2014. PMID: 24405868 Free PMC article.

6

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency.

Veiga-Junior NN, Medaets PA, Petroli RJ, Calais FL, de Mello MP, Castro CC, Guaragna-Filho G, Sewaybricker LE, Marques-de-Faria AP, Maciel-Guerra AT, Guerra-Junior G. Veiga-Junior NN, et al. Among authors: petroli rj. Int J Endocrinol. 2012;2012:964876. doi: 10.1155/2012/964876. Epub 2011 Dec 12. Int J Endocrinol. 2012. PMID: 22194745 Free PMC article.

7

[Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system].

Gazzaneo IF, de Queiroz CM, Goes LC, Lessa VJ, de Omena Filho RL, do Nascimento DL, Petroli RJ, Zanotti SV, Monlleó IL. Gazzaneo IF, et al. Among authors: petroli rj. Rev Paul Pediatr. 2016 Jan-Mar;34(1):91-8. doi: 10.1016/j.rpped.2015.06.014. Epub 2015 Oct 9. Rev Paul Pediatr. 2016. PMID: 26522823 Free PMC article.

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