Rita A. Bertalan

Budapest, BU, Hungary

Last Updated: 09/26/2026

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Found 17 publications

Male sex assignment in severely virilized 46,XX children with congenital adrenal hyperplasia.

Male sex assignment in severely virilized 46,XX children with congenital adrenal hyperplasia.

Journal: Frontiers in endocrinology

Published: December 11, 2025

Diagnostic and therapeutic perspectives in RASopathies

Diagnostic and therapeutic perspectives in RASopathies

Journal: Magyar onkologia

Published: October 06, 2024

Genetic advances and multidisciplinary patient care in Turner syndrome

Genetic advances and multidisciplinary patient care in Turner syndrome

Journal: Orvosi hetilap

Published: December 22, 2023

Diagnostics and follow-up strategy for Silver–Russell syndrome based on a case report showing familial accumulation

Diagnostics and follow-up strategy for Silver–Russell syndrome based on a case report showing familial accumulation

Journal: Orvosi hetilap

Published: July 08, 2022

The evolving role of whole-exome sequencing in the management of disorders of sex development.

The evolving role of whole-exome sequencing in the management of disorders of sex development.

Journal: Endocrine connections

Published: May 09, 2021

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 05, 2020

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 18, 2019

The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.

The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.

Journal: Molecular biology reports

Published: March 14, 2019

Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers.

Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers.

Journal: Molecular biology reports

Published: October 02, 2018

Evaluation of DSD training schools organized by cost action BM1303 "DSDnet".

Evaluation of DSD training schools organized by cost action BM1303 "DSDnet".

Journal: Orphanet journal of rare diseases

Published: September 04, 2018

Genetic factors in hypopituitarism. The role of transcription factors in pituitary hormone deficiency

Genetic factors in hypopituitarism. The role of transcription factors in pituitary hormone deficiency

Journal: Orvosi hetilap

Published: February 13, 2018

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.

Journal: American journal of human genetics

Published: November 20, 2017

Showing 1-12 of 17

Last Updated: 09/26/2026