Encontrados 5 documentos, a visualizar página 1 de 1
Using C. elegans to decipher the cellular and molecular mechanisms underlying ...
Bessa, C.; Maciel, P.; Rodrigues, Ana JoãoProva tipográfica (uncorrected proof) ; Neurodevelopmental disorders such as epilepsy, intellectual disability (ID), and autism spectrum disorders (ASDs) occur in over 2 % of the population, as the result of genetic mutations, environmental factors, or combination of both. In the last years, use of large-scale genomic techniques allowed important advances in the identification of genes/loci associated with the...
Phenotypic and functional consequences of haploinsufficiency of genes from exoc...
Wen, J.; Lopes, F.; Soares, G.; Farrell, S.; Nelson, C.; Qiao, Y.; Martell, S.; Badukke, C.; Bessa, C.; Ylstra, B.; Lewis, S.; Isoherranen, N.Background 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 are much less investigated. Method and results We report an example of a functional analysis of two genes from a new, overlapping microdeletion...
Molecular genetics of intellectual disability
Bessa, C.; Lopes, Fátima; Maciel, P.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 exoc...
Lopes, Fátima; Bessa, C.; Maciel, P.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...
Entamoeba histolytica and Entamoeba dispar infections as detected by monoclonal...
Braga,Lúcia Libanez Bessa C.; Gomes,Manuela L.; Silva,Melissa W. da; Paiva,Clece; Sales,Andréa; Mann,Barbara J.In this study the authors used the Elisa-based antigen detection tests that distinguish E. histolytica from E. dispar to examine the prevalence of E. histolytica infection in individuals from an urban slum in Fortaleza, Northeastern, Brazil. This test has a sensitivity and specificity that is comparable to PCR and isoenzyme analysis, which is the gold standard. Single stools samples were obtained from 735 indiv...
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