Helena Scallet-Fabbri - Publications

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

Exploring the underlying gene expression profiles of differences of sex development phenotypes through transcriptome analysis.

Journal: Scientific reports

Published: August 25, 2025

Replication of Missense OTOG Gene Variants in a Brazilian Patient with Menière's Disease.

Journal: Genes

Published: May 06, 2025

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

DHX37 and the Implications in Disorders of Sex Development: An Update Review.

Journal: Hormone research in paediatrics

Published: October 12, 2023

Prenatal Findings in Postnatal Cases of Disorders of Sex Development: Experience from a Tertiary-Specialized Center in Brazil.

Journal: Fetal diagnosis and therapy

Published: May 24, 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

MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis.

Journal: Journal of clinical medicine

Published: June 30, 2022

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study.

Journal: Sao Paulo medical journal = Revista paulista de medicina

Published: May 06, 2022