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Os efeitos da risperidona nos níveis de prolactina numa amostra de crianças e a...
João Tarroso, Maria; Almeida, Joana; Lontro, Raquel; Marques, Carla; S Miguel, Teresa; Lobo, Cristina; Café, Cátia; Mouga, Susana; Lapa, LígiaIntrodução: 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
C. Conceição, Inês; Correia, Catarina; Oliveira, Bárbara; Rama, Maria Margarida; Café, Cátia; Almeida, Joana; Mouga, Susana; Duque, FredericoRecent 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 ...
C. Conceição, Inês; Correia, Catarina; Oliveira, Bárbara; M. Rama, Maria; Café, Cátia; Almeida, Joana; Mouga, Susana; Duque, FredericoAutism 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...
Phenotypic categorization of putative pathogenic CNVs in a population of Autism...
Conceição, Inês C.; Correia, Catarina; Oliveira, Bárbara; Rama, Maria M.; Café, Cátia; Almeida, Joana; Mouga, Susana; Duque, FredericoAll individuals in this study signed an informed consent.
Characterization and expression analysis of a CNV at chromosome 10q22 encompass...
C. Conceição, Inês; Correia, Catarina; Oliveira, Bárbara; Duque, Frederico; Mouga, Susana; Oliveira, Guiomar; M. Vicente, AstridAutism 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. ...
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