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Genetic screening of Alzheimer's disease genes in Iberian and African samples y...
Guerreiro, RJ; Baquero, M; Blesa, R; Boada, M; Bras, JM; Bullido, MJ; Calado, A; Crook, R; Ferreira, C; Frank, A; Machado, A; Oliveira, CR; Santana, IMutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65 years) Alzheimer's disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iberian peninsular with a clinical diagnosis of early-onset AD (mean age at onset of 52.9 years; range 31-64). We found t...
Genetic screening of Alzheimer's disease genes in Iberian and African samples y...
Guerreiro, RJ; Baquero, M; Blesa, R; Boada, M; Bras, JM; Bullido, MJ; Calado, A; Crook, R; Ferreira, C; Machado, AMutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65 years) Alzheimer's disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iberian peninsular with a clinical diagnosis of early-onset AD (mean age at onset of 52.9 years; range 31-64). We found t...
Genetic screening of Alzheimer's disease genes in Iberian and African samples y...
Guerreiro, RJ; Baquero, M; Blesa, R; Boada, M; Bras, JM; Bullido, MJ; Calado, A; Crook, R; Ferreira, C; Machado, AMutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65 years) Alzheimer's disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iberian peninsular with a clinical diagnosis of early-onset AD (mean age at onset of 52.9 years; range 31-64). We found t...
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRK...
Brás, JM; Guerreiro, RJ; Morgadinho, A; Januário, C; Dias, M; Calado, A; Semedo, C; Oliveira, CR; Hardy, J; Singleton, ABACKGROUND: Mutations in the genes PRKN and LRRK2 are the most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe. METHODS: Here, we follow up on those results, screening not only LRRK2, but also PRKN, SNCA and PINK1 in a cohort of early-onset and la...
Estudo estereológico comparativo de complexos cumulus-ovócito aspirados de folí...
Calado,A.M.; Rocha,E.; Colaço,A.; Sousa,M.Realizou-se uma análise estereológica comparativa de complexos cumulus-ovócito (COCs) de bovino da raça Holtein-Friesian aspirados de folículos antrais pequenos (com diâmetro de 1-4mm) e médios (com diâmetro de 4-8mm) durante as fases de metaestro, diestro e de proestro. Foram estimados o volume médio dos COCs, dos ovócitos (com e sem zona pelúcida), dos núcleos dos ovócitos e das células foliculares e seus res...
Novos dados sobre os Spoligotypes de estirpes do complexo Mycobacterium tubercu...
David, S; Barros, V; Portugal, C; Antunes, A; Cardoso, A; Calado, A; Sancho, L; Sousa, JGO presente estudo populacional, que decorreu entre 1999 e 2003, foi baseado na utilização do Spoligotyping na genotipagem de 452 isolados do complexo Mycobacterium tuberculosis de doentes com tuberculose internados no Hospital Fernando Fonseca. Spoligotypes foram identificados como shared types (ST) recorrendo a uma base de dados internacional. Onze ST raros, não identificados na base de dados, acomodaram 8,4% ...
Spoligtyping e polimorfismo do gene pncA: um cenário em duas etapas para o diag...
David, S; Portugal, C; Antunes, A; Calado, A; Cardoso, A; Barros, V; Sancho, L; Sousa, JGThe differential diagnosis of Mycobacterium bovis is important in the control of transmission to the human population and also for treatment since M. bovis is naturally resistant to pyrazinamide. Eleven clinical isolates from the Fernando Fonseca Hospital with Spoligotypes indicative of M. bovis, through the absence of spacers 39-43 but that also counted with the absence of spacer 38, were analyzed. For the ide...
Identificação molecular pelo método de Spoligotyping de estirpes do complexo My...
David, S; Portugal, C; Antunes, A; Cardoso, A; Calado, A; Barros, V; Sancho, LSpoligotyping was used in the genotyping of 219 isolates of the Mycobacterium tuberculosis complex, from patients of the Hospital Fernando Fonseca. This technique, based on PCR methodology, analyses a region of the chromosome specific of the Mycobacterium tuberculosis complex, the DR locus (Direct Repeat). With the aid of an international database, we showed that the predominant Spoligotypes belonged to the LAM...
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