Reginaldo J. Petroli - Publications

Hydropathic AF-2 variants in the androgen receptor gene among androgen insensitivity patients.

Journal: Andrology

Published: December 14, 2023

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

Journal: The Journal of clinical endocrinology and metabolism

Published: April 28, 2023

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

Journal: Italian journal of pediatrics

Published: September 01, 2021

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

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: October 12, 2017

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

Journal: Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme

Published: March 05, 2015

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

Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

Published: February 27, 2015

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

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: June 25, 2014

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

Journal: BMC medical genetics

Published: March 27, 2013

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

Journal: Arquivos brasileiros de endocrinologia e metabologia

Published: July 31, 2012