Encontrados 21 documentos, a visualizar página 1 de 3
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
Correia, C.T.; Conceição, I.C.; Oliveira, B.; Coelho, J.; Sousa, I.; Sequeira, A.F.; Almeida, J.; Café, C.; Duque, F; Mouga, S.; Roberts, W.; Gao, K.Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study.
Individual common variants exert weak effects on the risk for autism spectrum d...
Anney, R.; Klei, L.; Pinto, D.; Almeida, J.; Bacchelli, E.; Baird, G.; Bolshakova, N.; Bölte, S.; Bolton, P.F.; Bourgeron, T.; Brennan, S.; Brian, J.While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stage...
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Mode...
Leblond, C.S.; Heinrich, J.; Delorme, R.; Proepper, C.; Betancur, C.; Huguet, G.; Konyukh, M.; Chaste, P.; Ey, E.; Rastam, M.; Anckarsäter, H.Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we...
Novel method for combined linkage and genome-wide association analysis finds ev...
Vieland, V.J.; Hallmayer, J.; Huang, Y.; Pagnamenta, A.T.; Pinto, D.; Khan, H.; Monaco, A.P.; Paterson, A.D.; Scherer, S.W.; Sutcliffe, J.S.Member of the Autism Genome Project Consortium: Astrid M. Vicente ; The Autism Genome Project has assembled two large datasets originally designed for linkage analysis and genome-wide association analysis, respectively: 1,069 multiplex families genotyped on the Affymetrix 10 K platform, and 1,129 autism trios genotyped on the Illumina 1 M platform. We set out to exploit this unique pair of resources by analyzi...
A genome-wide scan for common alleles affecting risk for autism
Anney, R.; Klei, L.; Pinto, D.; Regan, R.; Conroy, J.; Magalhaes, T.R.; Correia, C.; Abrahams, B.S.; Sykes, N.; Pagnamenta, A.T.; Almeida, J.Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ...
Functional impact of global rare copy number variation in autism spectrum disor...
Pinto, D.; Pagnamenta, A.T.; Klei, L.; Anney, R.; Merico, D.; Regan, R.; Conroy, J.; Magalhaes, T.R.; Correia, C.; Abrahams, B.S.; Almeida, J.The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying ge...
Development, optimization and control of functional bakery products
Pinto, D. B.Dissertation for PhD degree in Chemical and Biological Engineering ; Os alimentos funcionais são alimentos que, para além das suas funções nutricionais básicas, têm um efeito fisiológico benéfico ou reduzem o risco de aparecimento de doenças crónicas. Recentemente, o sector agro-alimentar descobriu nos alimentos funcionais uma oportunidade de negócio uma vez que estes produtos têm um elevado valor acrescentado...
Ocorrência e variação populacional de Carcinops troglodites em uma granja avíco...
Pinto,D.M.; Ribeiro,P.B.
Biblioteca da Embrapa Rondônia: estudo das necessidades informacionais de usuár...
PINTO, D. M.; SOLANO, V. de O.Este trabalho apresenta uma pesquisa, de caráter quantitativo e qualitativo, com usuários reais e potenciais da Biblioteca da Embrapa Rondônia, na perspectiva de verificar as demandas informacionais destes usuários. ; 2009
Biblioteca da Embrapa Rondônia: estudo das necessidades informacionais de usuár...
PINTO, D. M.; SOLANO, V. de O.Este trabalho apresenta uma pesquisa, de caráter quantitativo e qualitativo, com usuários reais e potenciais da Biblioteca da Embrapa Rondônia, na perspectiva de verificar as demandas informacionais destes usuários. ; 2009
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