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Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes

Bibliographic Details
Main Author: Oliveira, B.A.
Publication Date: 2013
Other Authors: Correia, C.A., Conceição, I.C., Café, C., Almeida, J., Mouga, S., Duque, F., Oliveira, G., Vicente, A.M.
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/10400.18/1640
Summary: 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
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spelling Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic GenesPerturbações do Desenvolvimento Infantil e Saúde MentalAutismAutism Spectrum DisordersCopy Number VariantsASDCNVsCopy 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 ASDInstituto Nacional de Saúde Doutor Ricardo Jorge, IPRepositório Científico do Instituto Nacional de SaúdeOliveira, B.A.Correia, C.A.Conceição, I.C.Café, C.Almeida, J.Mouga, S.Duque, F.Oliveira, G.Vicente, A.M.2013-06-25T11:42:46Z2013-062013-06-01T00:00:00Zconference objectinfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10400.18/1640enginfo:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-02-26T14:16:48Zoai:repositorio.insa.pt:10400.18/1640Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T21:31:11.257305Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes
title Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes
spellingShingle Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes
Oliveira, B.A.
Perturbações do Desenvolvimento Infantil e Saúde Mental
Autism
Autism Spectrum Disorders
Copy Number Variants
ASD
CNVs
title_short Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes
title_full Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes
title_fullStr Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes
title_full_unstemmed Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes
title_sort Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes
author Oliveira, B.A.
author_facet Oliveira, B.A.
Correia, C.A.
Conceição, I.C.
Café, C.
Almeida, J.
Mouga, S.
Duque, F.
Oliveira, G.
Vicente, A.M.
author_role author
author2 Correia, C.A.
Conceição, I.C.
Café, C.
Almeida, J.
Mouga, S.
Duque, F.
Oliveira, G.
Vicente, A.M.
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Oliveira, B.A.
Correia, C.A.
Conceição, I.C.
Café, C.
Almeida, J.
Mouga, S.
Duque, F.
Oliveira, G.
Vicente, A.M.
dc.subject.por.fl_str_mv Perturbações do Desenvolvimento Infantil e Saúde Mental
Autism
Autism Spectrum Disorders
Copy Number Variants
ASD
CNVs
topic Perturbações do Desenvolvimento Infantil e Saúde Mental
Autism
Autism Spectrum Disorders
Copy Number Variants
ASD
CNVs
description 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
publishDate 2013
dc.date.none.fl_str_mv 2013-06-25T11:42:46Z
2013-06
2013-06-01T00:00:00Z
dc.type.driver.fl_str_mv conference object
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/1640
url http://hdl.handle.net/10400.18/1640
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
publisher.none.fl_str_mv Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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