Mara S. Guaragna - Publications

Novel Variant and a Possible New Founder Effect for Xeroderma Pigmentosum Variant Type in Southeast Brazil: Case Report.

Journal: Case reports in dermatology

Published: March 09, 2026

Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.

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

Published: October 31, 2025

Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.

Journal: Biology of sex differences

Published: October 21, 2025

Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.

Journal: Einstein (Sao Paulo, Brazil)

Published: September 24, 2025

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

Epidemiology of Pediatric Nephrotic Syndrome: Real-World Data from Brazil.

Journal: Glomerular diseases

Published: May 27, 2025

ACTN4 p.Ile150Met Causes FSGS With Validation in Primary Fibroblasts and Immortalized Podocytes.

Journal: Kidney international reports

Published: March 14, 2025

Can Individuals with 47,XYY Karyotypes Exist without Male Phenotype? A Narrative Literature Review and Case Report.

Journal: Frontiers in bioscience (Scholar edition)

Published: June 14, 2024

Syndromic Retinitis Pigmentosa: A 15-Patient Study.

Journal: Genes

Published: March 15, 2024

Past and future in vitro and in vivo approaches toward circulating factors and biomarkers in idiopathic nephrotic syndrome.

Journal: Pediatric nephrology (Berlin, Germany)

Published: February 22, 2024

Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.

Journal: Kidney international reports

Published: January 05, 2024

Patients with genital ambiguity referred without a sex definition: the relationship between clinical picture and defined sex of rearing.

Journal: Jornal de pediatria

Published: December 27, 2023