Lista de obras -

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

artículo científico publicado en 2008

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

artículo científico publicado en 2022

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2017

Convergent molecular mechanisms underlying cognitive impairment in mucopolysaccharidosis type II

artículo científico publicado en 2021

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

artículo científico publicado en 2012

De novo unbalanced translocations have a complex history/aetiology

artículo científico publicado en 2018

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

artículo científico publicado en 2010

Finding FMR1 mosaicism in Fragile X syndrome.

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Lista de obras de

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

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

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

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

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

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

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

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

Convergent molecular mechanisms underlying cognitive impairment in mucopolysaccharidosis type II

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

De novo unbalanced translocations have a complex history/aetiology

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

Finding FMR1 mosaicism in Fragile X syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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