DPSPDNT - Apresentações orais em reuniões nacionais
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- Estudo Longitudinal da Exposição Ambiental a Toxinas (ELEAT): interações gene-ambiente na Perturbação do Espetro do AutismoPublication . Moura Vicente, AstridSobre interações gene-ambiente na Perturbação do Espetro do Autismo.
- 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).
- A Investigação na Perturbação do Espectro do AutismoPublication . Rasga, Célia; Marques, Ana Rita; Martiniano, Hugo; Vilela, Joana; Santos, João; Asif, Muhammad; Vicente, Astrid M.Comunicação oral sobre a Investigação na Perturbação do Espectro do Autismo e a situação em Portugal.
- 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
- PARK2 deletions identified in patients with Autism Spectrum Disorder (ASD)Publication . Moura Vicente, Astrid; Grupo de Neurogenética e Saúde Mental
- A role for gene-environment interactions in Autism Spectrum Disorder is supported by variants in genes regulating exposure to environmental factorsPublication . Xavier Santos, JoãoObjective: Identify variants in these genes, in ASD patients