Publicação
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
| dc.contributor.author | Correia, C.T. | |
| dc.contributor.author | Conceição, I.C. | |
| dc.contributor.author | Oliveira, B. | |
| dc.contributor.author | Coelho, J. | |
| dc.contributor.author | Sousa, I. | |
| dc.contributor.author | Sequeira, A.F. | |
| dc.contributor.author | Almeida, J. | |
| dc.contributor.author | Café, C. | |
| dc.contributor.author | Duque, F | |
| dc.contributor.author | Mouga, S. | |
| dc.contributor.author | Roberts, W. | |
| dc.contributor.author | Gao, K. | |
| dc.contributor.author | Lowe, J.K. | |
| dc.contributor.author | Thiruvahindrapuram, B. | |
| dc.contributor.author | Walker, S. | |
| dc.contributor.author | Marshall, C.R. | |
| dc.contributor.author | Pinto, D. | |
| dc.contributor.author | Nurnberger, J.I. | |
| dc.contributor.author | Scherer, S.W. | |
| dc.contributor.author | Geschwind, D.H. | |
| dc.contributor.author | Oliveira, G. | |
| dc.contributor.author | Vicente, A.M. | |
| dc.date.accessioned | 2014-05-08T15:02:35Z | |
| dc.date.available | 2014-05-08T15:02:35Z | |
| dc.date.issued | 2014-04 | |
| dc.description.abstract | 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. | por |
| dc.identifier.citation | Mol Autism. 2014 Apr 10;5(1):28. doi: 10.1186/2040-2392-5-28. | por |
| dc.identifier.issn | 2040-2392 | |
| dc.identifier.other | doi: 10.1186/2040-2392-5-28 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/2272 | |
| dc.language.iso | eng | por |
| dc.publisher | BioMed Central | por |
| dc.relation.publisherversion | http://www.molecularautism.com/content/5/1/28 | por |
| dc.subject | ANXA1 | por |
| dc.subject | Autism | por |
| dc.subject | Brain Homeostasis | por |
| dc.subject | Copy Number Variants | por |
| dc.subject | Duplication | por |
| dc.subject | Glucocorticoids | por |
| dc.subject | Perturbações do Desenvolvimento Infantil e Saúde Mental | por |
| dc.title | Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.startPage | 28 | por |
| oaire.citation.title | Molecular Autism | por |
| oaire.citation.volume | 5(1) | por |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |