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List of works by Cíntia Barros Santos-Rebouças

A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male.

scientific article

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

scientific article published on 13 July 2022

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.

scientific article

A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.

scientific article published on 6 May 2011

Association between socioeconomic markers and adult telomere length differs according to sex: Pro-Saúde study

scientific article published on 07 October 2020

Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil

scientific article published on 21 October 2016

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

article

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

scientific article

Convergent molecular mechanisms underlying cognitive impairment in mucopolysaccharidosis type II

scientific article published on 19 November 2021

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements

scientific article (publication date: 10 August 2012)

De novo unbalanced translocations have a complex history/aetiology

scientific article published on 01 October 2018

Epigenetic alterations of p15(INK4B) and p16(INK4A) genes in pediatric primary myelodysplastic syndrome.

scientific article published on October 2010

Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes ⬇️

scientific article published on January 1, 2012

Finding FMR1 mosaicism in Fragile X syndrome.

scientific article published on 30 December 2015

Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson's disease

scientific article published on 01 December 2010

Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease

scientific article published on 14 August 2013

Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson’s disease in Brazilian patients ⬇️

scientific article published on December 21, 2011

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

scientific article published on 26 May 2017

Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome

scientific article

KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature

scientific article published on 27 February 2014

MicroRNAs: macro challenges on understanding human biological functions and neurological diseases.

scientific article

Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease.

scientific article

Network Profiling of Brain-Expressed X-Chromosomal MicroRNA Genes Implicates Shared Key MicroRNAs in Intellectual Disability

scientific article published on 03 January 2019

Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.

scientific article

Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation.

scientific article published on 14 March 2015

Roles of CDKN1A gene polymorphisms (rs1801270 and rs1059234) in the development of cervical neoplasia

scientific article published on 5 February 2016

Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners

scientific article

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

scientific article published on 20 June 2020

rs3851179 Polymorphism at 5' to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population.

scientific article published on 31 May 2017

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