The goal of this chapter is to review the current knowledge of the genetic causes of intellectual disability, focusing on alterations at the chromosomal and single gene level, with particular mention to the new technological developments, including array technologies and next-generation sequencing, which allowed an enormous increase in yield from genetic studies. The cellular and physiological pathways that see...
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2. ; Rare, recurrent genomic imbalances facilitate the association of genotype with abnormalities at the "whole body" level. However, at the cellular level, the functional consequences of recurrent genomic abnormalities and how they can be linked to the phenotype...
O estudo da escrita de ditado de palavras isoladas (regulares, irregulares e pseudopalavras), em alunos do 4º e 6º ano do ensino básico, através da aplicação da PAL 21 constitui o objectivo central deste trabalho de investigação. Arquitectada à luz do modelo da dupla via de Caplan (1992), esta prova permite compreender os processos linguísticos envolvidos na transformação de um estímulo fonológico em expressão ...
O objectivo do presente trabalho é o de contribuir para uma melhoria do conhecimento do comportamento dos pavimentos rodoviários do tipo semi-rígido, através da análise dos processos de degradação conducentes ao aparecimento do fenómeno da reflexão de fendas. No campo de estudos dos pavimentos semi-rígidos surge o interesse de analisar o comportamento das fendas existentes na camada de base estrutural do pavime...
Development delay/Intellectual disability (DD/ID) is a serious and life-long condition which represents a challenge for families and public health services. It is characterized by suboptimal functioning of the central nervous system resulting in limitations both in intellectual functioning and in adaptive behavior, and it is observed in approximately 2-3% of the population worldwide. Establishing the disease et...
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