Maricilda P. De Mello
Cândido Rondon Avenue 400
Campinas, RS 13083875, Brazil
Campinas, RS 13083875, Brazil
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 52 publications
Twelve Brazilian families with X-linked Congenital Adrenal Hypoplasia: new rearrangements and new variants in the NR0B1 gene.
Journal: Jornal de pediatria
Published: September 01, 2025
Exploring the underlying gene expression profiles of differences of sex development phenotypes through transcriptome analysis.
Journal: Scientific reports
Published: August 25, 2025
Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center.
Journal: Archives of endocrinology and metabolism
Published: February 02, 2024
DHX37 and the Implications in Disorders of Sex Development: An Update Review.
Journal: Hormone research in paediatrics
Published: October 12, 2023
X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene.
Journal: American journal of medical genetics. Part A
Published: September 27, 2023
DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis.
Journal: Life (Basel, Switzerland)
Published: February 28, 2023
Sex dimorphism of weight and length at birth: evidence based on disorders of sex development.
Journal: Annals of human biology
Published: October 11, 2022
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
Journal: International journal of molecular sciences
Published: October 05, 2022
SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism.
Journal: American journal of medical genetics. Part A
Published: August 08, 2022
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
Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: January 21, 2021
Suggested Cutoff Point for Testosterone by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS) after Stimulation with Recombinant Human Chorionic Gonadotropin.
Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: January 07, 2021
Last Updated: 09/26/2026