DPSPDNT - Apresentações orais em reuniões nacionais
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Browsing DPSPDNT - Apresentações orais em reuniões nacionais by Subject "Autism Spectrum Disorder"
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- An integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum DisorderPublication . Asif, Muhammad; Couto, Francisco M.; Vicente, Astrid M.Objectives: To identify clinically similar subgroups of individuals with ASD [To reduce ASD heterogeneous phenotype]; To find biological processes disrupted by rare CNVs targeting brain genes in ASD subjects [To maximize the reproducibility with other data sets]; To train a machine learning classifier for the clinical prediction of disease progression from genetic information in very young children [To facilitate clinical doctors in diagnosis]
- Autism Spectrum DisorderPublication . Moura Vicente, Astrid; Vilela, Joana; Marques, Ana Rita1) Identification of neurotransmitter and synaptic gene variants in ASD patients; 2) Are genetic variants targeting noncoding RNAs contributing to ASD risk?; 3) An integrative system biology approach to delineate complex genotype-phenotype associations in ASD; 4) Mining of genes relevant for ASD in large databases.
- Gene-environment interactions in Autism Spectrum DisorderPublication . Santos, João PedroMain Goal of the Project: Hypothesis: Children with a given genetic susceptibility, when exposed to a specific toxicant, will have an increased risk of developing ASD.
- Gene-environment interactions in Autism Spectrum Disorder (ASD): excess copy number variants (CNVs) in genes regulating the effect of environmental exposure to toxicantsPublication . Xavier Santos, JoãoASD is an heterogeneous neurodevelopmental disorder, with an estimated heritability of 50% and a complex genetic etiology. Recent studies also implicate exposure to environmental factors in this disorder. We thus hypothesize that ASD is the result of the interaction of a genetic susceptibility with exposure to environmental toxicants early in development. Here we tested whether affected individuals have an excess of CNVs targeting genes involved in control of toxicant effects, including detoxification or regulation of barrier permeability (blood-brain barrier, placenta and respiratory cilia).
- Identification of disease risk variants in neurotransmission and synaptic genes in Autism Spectrum DisorderPublication . Vilela, JoanaAutism Spectrum Disorder (ASD) is a neurodevelopment disorder with onset on early childhood.
- Investigação no Autismo: Deteção Precoce no AutismoPublication . Moura Vicente, Astrid
- Maternal Copy Number Variants (CNV) transmission to their Autism Spectrum Disorder (ASD) sons correlates with phenotypic traitsPublication . Asif, MuhammadBackground: Common neurodevelopmental disorder, global prevalence ~1 %; Persistent deficits in social communication and social interaction; restricted and repetitive behavior, interests, or activities; Highly heterogeneous clinical presentation; Male to female ratio ~4:1.
- Neurobehavioral traits in family members inform gene discovery in ASDPublication . Luzi, SonijaOutline: Autism Spectrum Disorder; Hetereogeneity of diagnosis and presence of comorbidities; Quantitative Autism Score (QAS) as continuous set outcome for analyses; Different patients and different family history for neurobehavioral disorders; Genetic analyses; Results
- Neuropsychiatric disease (NPD) clustering in families with Autism Spectrum Disorder (ASD): genetic, epigenetic and environmental issuesPublication . Fernandes Marques, Ana RitaIntroduction: Autism Spectrum Disorder (ASD): Heterogeneous neurodevelopmental disorder; Characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors and interests; Median estimated prevalence worldwide of 17/10000; Male to female ratio: ~4:1; Comorbidities: anxiety, intellectual disability, epilepsy, bipolar disorder (…); Often co-occurs in the same families with other neuropsychiatric diseases (NPD), such as intellectual disability, schizophrenia, epilepsy, depression and attention deficit hyperactivity disorder.