DPSPDNT - Apresentações orais em reuniões nacionais
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- 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).
- 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.
- 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