Repositório Científico do Instituto Nacional de Saúde Doutor Ricardo Jorge
Repositório digital e de livre acesso que disponibiliza o acervo de publicações científicas produzidas na instituição.
Visa agregar, preservar e difundir a produção intelectual, incrementando a sua visibilidade e acessibilidade, a fim de aumentar o impacte da sua investigação e contribuir para a promoção do estudo e do conhecimento científico na área da Saúde Pública. Pretende-se ainda preservar a identidade histórica da instituição.
Translating the complex ASD genetic architecture into clinical phenotype using an integrative system biology approach
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.
Adapting the early life exposure assessment tool (ELEAT) to Portugal: a pilot study to tackle gene-environment interactions in autism spectrum disorder
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.
A role for gene-environment interactions in Autism Spectrum Disorder is suggested by an excess of potentially pathogenic variants in genes regulating exposure to toxicants
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.
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and...
What do parents of children with autism expect from participation in research? A community survey about early autism studies
Engagement with stakeholders is an essential part of the research process. This is particularly the case for early autism research with infant cohorts and their families, where a range of ethical issues are pertinent. Here, we report on a large survey of parents who have ...