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Desenvolvimento de estimação de estados em tempo-real para a rede de distribuição
Sousa, Alda Cristina Rodrigues deTese de mestrado integrado. Engenharia Electrotécnica e de Computadores. Faculdade de Engenharia. Universidade do Porto. 2010
Familial aggregation of maxillary lateral incisor agenesis
Maciel, P.; Pinho, Teresa; Lemos, C.; Sousa, AldaIn spite of recent developments, data regarding the genes responsible for the less severe forms of hypodontia are still scarce and controversial. This study addressed the hypothesis that agenesis of maxillary lateral incisors (MLIA) is a distinct type of hypodontia, by evaluating its familial aggregation and the occurrence of other types of ageneses or microdontia in probands' relatives. Sixty-two probands with...
The CAG repeat at the Huntington disease gene in the Portuguese population : in...
Costa, Maria do Carmo; Magalhães, Paula; Guimarães, Laura; Maciel, P.; Sequeiros, Jorge; Sousa, AldaHuntington disease (HD) is caused by an expansion of a CAG repeat. This repeat is a dynamic mutation that tends to undergo intergenerational instability. We report the analysis of the CAG repeat in a large population sample (2,000 chromosomes) covering all regions of Portugal, and a haplotype study of (CAG)n and (CCG)n repeats in 140 HD Portuguese families. Intermediate class 2 alleles represented 3.0% of the p...
Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene...
Lima, M.; Costa, Maria do Carmo; Montiel, R.; Ferro, Anabela; Santos, C.; Silva, C.; Bettencourt, C.; Sousa, Alda; Sequeiros, Jorge; Coutinho, P.To gain insights on the molecular mechanisms of mutation that led to the emergence of expanded alleles in the MJD gene, by studying the behavior of wild-type alleles and testing the association of its distribution with the representation of the disease. Methods: The number of CAG motifs in the MJD gene was determined in a representative sample of 1000 unrelated individuals. Associations between the repeat size ...
Molecular diagnosis of Huntington disease in Portugal : implications for geneti...
Costa, Maria do Carmo; Magalhães, Paula; Ferreirinha, Fátima; Guimarães, Laura; Januário, Cristina; Gaspar, Isabel; Loureiro, Leal; Vale, JoséHuntington disease (HD) is a eurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic te...
Inherited and acquired risk factors and their combined effects in pediatric stroke
Barreirinho, Maria Sameiro; Ferro, Anabela; Santos, Manuela; Costa, Elísio; Pinto-Bastos, Jorge; Sousa, Alda; Sequeiros, Jorge; Maciel, PatriciaThe aim of this study was to identify hereditary and acquired risk-factors as they are related to the occurrence of stroke in children. We identified 21 children with stroke. A search of the Factor V Leiden mutation, the Factor II G20210A variant, and the thermolabile variant of methylenetetrahydrofolate reductase was performed in patients and in a control group (n = 115).We identified risk factors of acquired ...
A Variabilidade fenotípica da polineuropatia amiloidótica familiar : Um Estudo ...
Sousa, Alda Maria Botelho Correia deDissertação de Doutoramento em Ciências Biomédicas, área de especialização em Genética, apresentada ao Instituto de Ciências Biomédicas de Abel Salazar da Universidade do Porto
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