Andressa P. Goncalves

Rio De Janeiro, RJ 20550013, Brazil

Last Updated: 09/26/2026

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Found 17 publications

Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.

Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.

Journal: Neurogenetics

Published: December 17, 2024

Co-occurrence of PRKN and SYNJ1 variants in Early-Onset Parkinson's disease.

Co-occurrence of PRKN and SYNJ1 variants in Early-Onset Parkinson's disease.

Journal: Metabolic brain disease

Published: December 15, 2023

Identification of a novel epigenetic marker for typical and mosaic presentations of Fragile X syndrome.

Identification of a novel epigenetic marker for typical and mosaic presentations of Fragile X syndrome.

Journal: Expert review of molecular diagnostics

Published: November 16, 2023

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

Journal: European journal of medical genetics

Published: April 08, 2022

A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.

A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.

Journal: Metabolic brain disease

Published: April 01, 2022

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.

Journal: European journal of medical genetics

Published: March 11, 2021

Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.

Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.

Journal: Molecular neurobiology

Published: March 20, 2020

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.

Journal: Frontiers in genetics

Published: July 31, 2019

De novo unbalanced translocations have a complex history/aetiology.

De novo unbalanced translocations have a complex history/aetiology.

Journal: Human genetics

Published: August 14, 2018

CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease.

CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease.

Journal: Neurobiology of aging

Published: May 21, 2018

Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.

Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.

Journal: Journal of the neurological sciences

Published: April 04, 2017

Influence of low frequency PSEN1 variants on familial Alzheimer's disease risk in Brazil.

Influence of low frequency PSEN1 variants on familial Alzheimer's disease risk in Brazil.

Journal: Neuroscience letters

Published: March 29, 2017

Showing 1-12 of 17

Last Updated: 09/26/2026