Publication
Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes
| dc.contributor.author | Oliveira, B.A. | |
| dc.contributor.author | Correia, C.A. | |
| dc.contributor.author | Conceição, I.C. | |
| dc.contributor.author | Café, C. | |
| dc.contributor.author | Almeida, J. | |
| dc.contributor.author | Mouga, S. | |
| dc.contributor.author | Duque, F. | |
| dc.contributor.author | Oliveira, G. | |
| dc.contributor.author | Vicente, A.M. | |
| dc.date.accessioned | 2013-06-25T11:42:46Z | |
| dc.date.available | 2013-06-25T11:42:46Z | |
| dc.date.issued | 2013-06 | |
| dc.description.abstract | 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 in ASD | por |
| dc.description.sponsorship | 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). | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/1640 | |
| dc.language.iso | eng | por |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | por |
| dc.subject | Perturbações do Desenvolvimento Infantil e Saúde Mental | por |
| dc.subject | Autism | por |
| dc.subject | Autism Spectrum Disorders | por |
| dc.subject | Copy Number Variants | por |
| dc.subject | ASD | por |
| dc.subject | CNVs | por |
| dc.title | Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Paris, França | por |
| oaire.citation.title | European Human Genetics Conference, 8-11 june 2013 | por |
| rcaap.rights | openAccess | por |
| rcaap.type | conferenceObject | por |