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Os efeitos da risperidona nos níveis de prolactina numa amostra de crianças e a...

Introdução: O autismo é uma patologia complexa do neurodesenvolvimento, sem terapia curativa disponível, consistindo o tratamento de base na planificação educativa e comportamental. O recurso à farmacoterapia justifica-se quando existem comportamentos disruptivos, que interferem negativamente no sucesso educativo e na qualidade de vida das crianças e suas famílias. Neste contexto, a risperidona tornou-se o anti...

Relevance of Common and Rare CNVs for Autism Etiology

Recent reports by the Autism Genome Project (AGP) consortium and other groups show that Copy Number Variants (CNVs), while individually rare, collectively may explain a large fraction of the etiology of Autism Spectrum Disorders (ASD). The goal of this study was to establish the clinical and etiological relevance for ASD of potentially pathogenic CNVs identified in a Portuguese population sample by whole genome...

CNV Characterization, Inheritance and Phenotypic Correlations in Families With ...

Autism Spectrum Disorders (ASD) have a strong genetic component, with an estimated heritability of over 90%1. Recent studies carried out by the Autism Genome Project (AGP) consortium suggest that rare Copy Number Variants (CNVs), characterized by submicroscopic chromosomal deletions and duplications, are more frequent in ASD compared to controls, and may play an important role in susceptibility to this disorder...

Variantes genéticas estruturais numa população de indivíduos com Perturbações d...

Phenotypic categorization of putative pathogenic CNVs in a population of Autism...

All individuals in this study signed an informed consent.

Evaluation of pathogenic potential of Aeromonas spp. strains using in vitro met...

Dissertation to obtain a Master Degree in Molecular Genetics and Biomedicine ; Aims: To contribute to the evaluation of the pathogenic potential of Aeromonas, through the test of 24 Aeromonas spp. strains of Portuguese origin, for the adherence, invasion and cytotoxicity abilities in mammal cells. Rationale: Studies on other enteropathogens indicate that a pathogen must be able to attach to host target cells t...

SHANK2 mutations: synapse homeostasis in Autism Spectrum Disorders (ASD)

ASD are a heterogeneous group of neurodevelopmental disorders presenting a complex inheritance pattern. The genetic causes of ASD are diverse, but the majority of genes previously implicated participate in the development and function of neuronal circuits. Mutations in genes encoding synaptic cell adhesion molecules and scaffolding proteins, such as neuroligins (NLGN), neurexins (NRXN) and the SHANK family, hav...

Characterization and expression analysis of a CNV at chromosome 10q22 encompass...

Autism Spectrum Disorders (ASD) have a strong genetic component, with an estimated heritability of over 90%. Recent studies carried out by the Autism Genome Project (AGP) consortium suggest that rare Copy Number Variants (CNV), characterized by submicroscopic chromosomal deletions and duplications, are more frequent in ASD compared to controls, and may play an important role in susceptibility to this disorder. ...

Construir no construído. Habitação flexivel em bairros municipais. Projecto par...

Tese de Mestrado em Arquitectura

Determinants of weight and health status perception among Portuguese adults