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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.
Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Eti...
Oliveira, B.A.; Correia, C.A.; Conceição, I.C.; Café, C.; Almeida, J.; Mouga, S.; Duque, F.; Oliveira, G.; Vicente, A.M.Copy Number Variants (CNVs) play an important role in susceptibility to ASD, often mediated by the deletion or duplication of genes involved in synaptic structure and function. Increasing evidence suggests a central role for defects in synaptic structure and function in the pathogenesis of non-syndromic ASD. In this study we tested the hypothesis of an enrichment in CNVs encompassing synaptic transmission genes...
Pediatria do neurodesenvolvimento: levantamente nacional de recursos e necessid...
Oliveira, G; Duque, F; Duarte, C; Melo, F; Teles, L; Brito, F; Vale, MC; Guimarães, MJ; Gouveia, R
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...
Copy number variants involving components of the glutamatergic synaptic pathway...
Oliveira, B.A.; Conceição, I.C.; Correia, C.A.; Café, C.; Almeida, J.; Mouga, S.; Duque, F.; Oliveira, G.; Vicente, A.M.This work was supported by the fellowships SFRH/BD/79081/2011 to BO, SFRH/BPD/74739/2010 to ICC and SFRH/BPD/64281/2009 to CC from Fundação para a Ciência e a Tecnologia (FCT; Portugal). ; Copy Number Variants (CNVs) play an important role in susceptibility to Autism Spectrum Disorders (ASD), in particular when deleting or duplicating genes involved in synaptic structure and function such as glutamatergic syna...
Pediatria do Neurodesenvolvimento. Levantamento Nacional de Recursos e Necessid...
Oliveira, G; Duque, F; Duarte, C; Melo, F; Teles, L; Brito, M; Vale, MC; Guimarães, MJ; Gouveia, RAs perturbações do neurodesenvolvimento são das patologias crónicas mais frequentes da infância e com tendência a aumentar nas sociedades modernas. Têm na grande maioria dos casos um percurso crónico e com limitação da aprendizagem necessária para a integração na sociedade de um modo autónomo. A Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria procedeu em 2008 e 2009 ao levant...
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...
II Curso sobre a biologia do solo na agricultura.
ASSIS, R. L. de; SOUTO, S. M.; DUQUE, F. F.; ALMEIDA, D. L. de; MUELLER, K. E. K.Nitogênio. Fixação de nitrogênio atmosférico na simbiose Rhizobium- leguminosas. Nodulação das leguminosas. Fatores do solo. Fatores climáticos. Fixação de nitrogênio em gramíneas. Microrganismos do solo e aproveitamento de fósforo pelas plantas. O papel das micorrizas. Outos microrganismos. Matéria orgânica do solo: Dinâmica e importância na conservação do solo e produtividade agrícola. Classificação das subst...
A Inoculação do feijoeiro comum com rizóbio.
MERCANTE, F. M.; STRALIOTTO, R.; DUQUE, F. F.; FRANCO, A. A.Inoculação das sementes. Inoculação simples. Inoculação com revestimento das sementes. ; 1992
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