7 documents found, page 1 of 1
Neuropsychiatric disease (NPD) clustering in families with Autism Spectrum Diso...
Marques, Ana Rita; Martiniano, Hugo; Romão, Luísa; M. Vicente, AstridObjectives: The aim of this project is to understand the role of epigenetic factors in ASD, with a particular focus on long noncoding lncRNA, miRNA and other regulatory molecules. For this purpose this project has two main specific objectives: 1. To identify lncRNA and miRNA loci implicated in ASD through the analysis of two large datasets with CNV and SNV data from ASD families and controls; 2. To identify gen...
Autism Spectrum Disorder (ASD): genetic, epigenetic and environmental issues
Marques, Ana Rita; Martiniano, Hugo; Xavier-Santos, João; Asif, M.; Oliveira, Guiomar; Luísa, Romão; M. Vicente, AstridAutism Spectrum Disorder (ASD) is a neurodevelopmental disorder which affects the brain structure and the proper establishment of the neuronal connectivity.
Exploratory analysis of mutations targeting noncoding RNAs in autism
Marques, Ana Rita; Martiniano, Hugo; Asif, Muhammad; Santos, João Pedro; M. Vicente, AstridAutism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors. Heritability estimates indicate that genetic factors account for ~50% risk of ASD, sugesting a role of epigenetic factors, such as long noncoding RNA (lncRNA) and microRNA (miRNA), as modulators of genetic expression and clinical presen...
Regulatory RNAs in Autism Spectrum Disorder: modulation of genomic variant effe...
M. Vilela, Joana; R. Marques, Ana; Martiniano, Hugo; P. Santos, João; Asif, Muhammad; Rasga, Célia; Oliveira, Guiomar; M. Vicente, AstridObjective; The main objective of this project is to identify molecular alterations in neurotransmission and synaptic genes that play a role in ASD etiology.
Relevance of Common and Rare CNVs for Autism Etiology
C. Conceição, Inês; Correia, Catarina; Oliveira, Bárbara; Rama, Maria Margarida; Café, Cátia; Almeida, Joana; Mouga, Susana; Duque, FredericoRecent reports by the Autism Genome Project (AGP) consortium and other groups show that Copy Number Variants (CNVs), while individually rare, collectively may explain a large fraction of the etiology of Autism Spectrum Disorders (ASD). The goal of this study was to establish the clinical and etiological relevance for ASD of potentially pathogenic CNVs identified in a Portuguese population sample by whole genome...
CNV Characterization, Inheritance and Phenotypic Correlations in Families With ...
C. Conceição, Inês; Correia, Catarina; Oliveira, Bárbara; M. Rama, Maria; Café, Cátia; Almeida, Joana; Mouga, Susana; Duque, FredericoAutism Spectrum Disorders (ASD) have a strong genetic component, with an estimated heritability of over 90%1. Recent studies carried out by the Autism Genome Project (AGP) consortium suggest that rare Copy Number Variants (CNVs), characterized by submicroscopic chromosomal deletions and duplications, are more frequent in ASD compared to controls, and may play an important role in susceptibility to this disorder...
Characterization and expression analysis of a CNV at chromosome 10q22 encompass...
C. Conceição, Inês; Correia, Catarina; Oliveira, Bárbara; Duque, Frederico; Mouga, Susana; Oliveira, Guiomar; M. Vicente, AstridAutism Spectrum Disorders (ASD) have a strong genetic component, with an estimated heritability of over 90%. Recent studies carried out by the Autism Genome Project (AGP) consortium suggest that rare Copy Number Variants (CNV), characterized by submicroscopic chromosomal deletions and duplications, are more frequent in ASD compared to controls, and may play an important role in susceptibility to this disorder. ...