Luciana R. Montenegro

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 42 publications

Phenotypic Variability of Males with Loss-of-Function Mutations of MKRN3: A Case Report and Literature Review.

Phenotypic Variability of Males with Loss-of-Function Mutations of MKRN3: A Case Report and Literature Review.

Journal: Hormone research in paediatrics

Published: July 11, 2025

Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series.

Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series.

Journal: Archives of endocrinology and metabolism

Published: May 14, 2025

Genetic Investigation of Regulatory Regions of MKRN3 and DLK1 Genes in Children with Central Precocious Puberty.

Genetic Investigation of Regulatory Regions of MKRN3 and DLK1 Genes in Children with Central Precocious Puberty.

Journal: Hormone research in paediatrics

Published: September 26, 2024

The genetic etiology is a relevant cause of central precocious puberty.

The genetic etiology is a relevant cause of central precocious puberty.

Journal: European journal of endocrinology

Published: March 02, 2024

Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.

Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.

Journal: European journal of endocrinology

Published: June 05, 2023

Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.

Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.

Journal: The Journal of clinical endocrinology and metabolism

Published: December 08, 2022

Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.

Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.

Journal: The lancet. Diabetes & endocrinology

Published: November 19, 2022

Clinical and Genetic Characterization of Familial Central Precocious Puberty.

Clinical and Genetic Characterization of Familial Central Precocious Puberty.

Journal: The Journal of clinical endocrinology and metabolism

Published: October 13, 2022

Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.

Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.

Journal: Clinics (Sao Paulo, Brazil)

Published: September 19, 2022

High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.

High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.

Journal: Journal of the Endocrine Society

Published: January 05, 2022

Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.

Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.

Journal: The Journal of clinical endocrinology and metabolism

Published: November 15, 2021

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.

Journal: Genes

Published: May 17, 2021

Showing 1-12 of 42

Last Updated: 09/26/2026