94 documents found, page 1 of 10
Autism Spectrum Disorder: gene variants involved in the nonsense-mediated mRNA ...
Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Vilela, J.; Rasga, C.; Oliveira, G.; Romão, L.; Vicente, A.M.No abstract available
Emissions from residential pellet combustion of an invasive acacia species
Vicente, E.D.; Vicente, A.M.; Evtyugina, M.; Carvalho, R.; Tarelho, L.A.C.; Paniagua, S.; Nunes, T.; Otero, M.; Calvo, L.F.; Alves, C.Currently, different types of raw materials are under investigation to fulfil the demand for pellet-based renewable energy. The aim of this study was to experimentally quantify and characterise the gaseous and particulate matter (PM10) emissions from the combustion of a pelletised invasive species growing in the Portuguese coastal areas. The combustion of acacia pellets in a stove used for domestic heating led ...
Adapting the early life exposure assessment tool (ELEAT) to Portugal: a pilot s...
Rasga, C.; Santos, J.; Lopes, A.L.; Marques, A.R.; Vilela, J.; Asif, M.; Walker, C.K.; Schmidt, R.J.; Vicente, A.M.The objective was to pilot a Portuguese version of the Early Life Exposure Assessment Tool (ELEAT) for the assessment of the role of environmental exposures in a population of Portuguese children with ASD.
miRNA and lncRNA gene variants in Autism Spectrum Disorder
Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Enguita, F.J.; Romão, L.; Vicente, A.M.Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder: Characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors and interests; Median estimated prevalence worldwide is 17/10000; Male to female ratio: ~4:1; Comorbidities: intellectual disability, anxiety, epilepsy, (…).
Regulatory RNAs in Autism Spectrum Disorder
Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Enguita, F.J.; Romão, L.; Vicente, A.M.Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder: Characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors and interests.
Translating the complex ASD genetic architecture into clinical phenotype using ...
Asif, M.; Martiniano, Hugo F.; Rasga, Celia; Marques, Ana R.; Santos, João X.; Couto, Francisco M.; Vicente, A.M.Objective: The global objective of this study is to improve ASD diagnosis and prognosis by dissecting the complex genotype-phenotype associations using an integrative systems biology approach.
Evidence for a role of nonsense-mediated mRNA decay pathway genes in Autism Spe...
Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Romão, L.; Vicente, A.M.Autism Spectrum Disorder (ASD): is a neurodevelopmental disorder characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors and interests.
Identifying disease genes using machine learning and gene functional similariti...
Asif, M.; Martiniano, H.F.M.C.M.; Vicente, A.M.; Couto, F.M.Identifying disease genes from a vast amount of genetic data is one of the most challenging tasks in the post-genomic era. Also, complex diseases present highly heterogeneous genotype, which difficult biological marker identification. Machine learning methods are widely used to identify these markers, but their performance is highly dependent upon the size and quality of available data. In this study, we demons...
A role for gene-environment interactions in Autism Spectrum Disorder is suggest...
Santos, J.X.; Marques, A.R.; Rasga, C.; Asif, M.; Vilela, J.; Martiniano, H.; Oliveira, G.; Nunes, A.; Vicente, A.M.Objective: Identify potentially pathogenic CNVs and SNVs targeting genes involved in regulation of toxins exposure, namely in detoxification processes and physiological permeability barriers (blood-brain barrier and placenta), in individuals with ASD.
ASD prevalence study across Europe: developing a school-based screening approac...
García Primo, P.; Schendel, D.; Partner, E.; Rasga, C.; Café, C.; Rogé, B.; Arnaud, C.; Saemundsen, E.; Muratori, F.; Narzisi, A.; Boilson, A.Objectives: The main objective of the present work is to describe the strategy of the Autism Spectrum Disorder in the European Union (ASDEU) project to estimate the prevalence of ASD in school-aged children (7-9 years) across Europe. The focus of the presentation is on the novel field study strategy and aims to be a reflection on what we have learned regarding standardization of study methods across sites, what...