Petroli RJ - Search Results

1

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.

2

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.

3

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.

4

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.

5

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family.

Petroli RJ, Maciel-Guerra AT, Soardi FC, de Calais FL, Guerra-Junior G, de Mello MP. Petroli RJ, et al. BMC Res Notes. 2011 Jun 6;4:173. doi: 10.1186/1756-0500-4-173. BMC Res Notes. 2011. PMID: 21645389 Free PMC article.

6

Preserved fertility in a patient with gynecomastia associated with the p.Pro695Ser mutation in the androgen receptor.

Petroli RJ, Hiort O, Struve D, Maciel-Guerra AT, Guerra-Júnior G, Palandi de Mello M, Werner R. Petroli RJ, et al. Sex Dev. 2014;8(6):350-5. doi: 10.1159/000368862. Epub 2014 Nov 15. Sex Dev. 2014. PMID: 25401426

7

Two Novel Mutations in the Thyroid Hormone Receptor β in Patients with Resistance to Thyroid Hormone (RTH β): Clinical, Biochemical, and Molecular Data.

Esquiaveto-Aun AM, Zantut-Wittmann DE, Petroli RJ, Nakano BS, Guerra-Júnior G, de Lemos-Marini SH, de Mello MP. Esquiaveto-Aun AM, et al. Among authors: petroli rj. Horm Metab Res. 2015 Nov;47(12):889-94. doi: 10.1055/s-0035-1545305. Epub 2015 Mar 4. Horm Metab Res. 2015. PMID: 25738994

8

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.

Coeli FB, Soardi FC, Bernardi RD, de Araújo M, Paulino LC, Lau IF, Petroli RJ, de Lemos-Marini SH, Baptista MT, Guerra-Júnior G, de-Mello MP. Coeli FB, et al. Among authors: petroli rj. BMC Med Genet. 2010 Jun 29;11:104. doi: 10.1186/1471-2350-11-104. BMC Med Genet. 2010. PMID: 20587039 Free PMC article.

9

Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.

Petroli RJ, Hiort O, Struve D, Gesing JK, Soardi FC, Spínola-Castro AM, Melo K, Prado Arnhold IJ, Maciel-Guerra AT, Guerra-Junior G, Werner R, de Mello MP. Petroli RJ, et al. Sex Dev. 2017;11(5-6):238-247. doi: 10.1159/000484882. Epub 2017 Dec 14. Sex Dev. 2017. PMID: 29237170

10

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

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