De M. Abreu

Rio De Janeiro, RJ, Brazil

Last Updated: 09/26/2026

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Found 15 publications

Case Report: When genetic diagnosis comes late: lessons from a DEND syndrome patient successfully transitioned to sulfonylurea.

Case Report: When genetic diagnosis comes late: lessons from a DEND syndrome patient successfully transitioned to sulfonylurea.

Journal: Frontiers in clinical diabetes and healthcare

Published: June 25, 2025

Case Report: New insights about clinical manifestations of patients with GCK genetic variants.

Case Report: New insights about clinical manifestations of patients with GCK genetic variants.

Journal: Frontiers in endocrinology

Published: December 20, 2024

Genetic variants in DBC1, SIRT1, UCP2 and ADRB2 as potential biomarkers for severe obesity and metabolic complications.

Genetic variants in DBC1, SIRT1, UCP2 and ADRB2 as potential biomarkers for severe obesity and metabolic complications.

Journal: Frontiers in genetics

Published: January 04, 2024

FTO rs17817449 Variant Increases the Risk of Severe Obesity in a Brazilian Cohort: A Case-Control Study.

FTO rs17817449 Variant Increases the Risk of Severe Obesity in a Brazilian Cohort: A Case-Control Study.

Journal: Diabetes, metabolic syndrome and obesity : targets and therapy

Published: December 09, 2023

Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.

Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.

Journal: Frontiers in endocrinology

Published: December 01, 2021

Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity.

Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity.

Journal: Frontiers in genetics

Published: September 21, 2020

PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes.

PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes.

Journal: European journal of medical genetics

Published: August 26, 2020

A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity.

A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity.

Journal: Diabetes, metabolic syndrome and obesity : targets and therapy

Published: June 20, 2020

Identification of the First PAX4-MODY Family Reported in Brazil.

Identification of the First PAX4-MODY Family Reported in Brazil.

Journal: Diabetes, metabolic syndrome and obesity : targets and therapy

Published: April 04, 2020

The first case of NEUROD1-MODY reported in Latin America.

The first case of NEUROD1-MODY reported in Latin America.

Journal: Molecular genetics & genomic medicine

Published: April 29, 2019

Identification of the MC4R start lost mutation in a morbidly obese Brazilian patient.

Identification of the MC4R start lost mutation in a morbidly obese Brazilian patient.

Journal: Diabetes, metabolic syndrome and obesity : targets and therapy

Published: March 14, 2019

MODY probability calculator for GCK and HNF1A screening in a multiethnic background population.

MODY probability calculator for GCK and HNF1A screening in a multiethnic background population.

Journal: Archives of endocrinology and metabolism

Published: February 25, 2019

Showing 1-12 of 15

Last Updated: 09/26/2026