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Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

2014-04Journal article Open access
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dc.contributor.authorCorreia, C.T.
dc.contributor.authorConceição, I.C.
dc.contributor.authorOliveira, B.
dc.contributor.authorCoelho, J.
dc.contributor.authorSousa, I.
dc.contributor.authorSequeira, A.F.
dc.contributor.authorAlmeida, J.
dc.contributor.authorCafé, C.
dc.contributor.authorDuque, F
dc.contributor.authorMouga, S.
dc.contributor.authorRoberts, W.
dc.contributor.authorGao, K.
dc.contributor.authorLowe, J.K.
dc.contributor.authorThiruvahindrapuram, B.
dc.contributor.authorWalker, S.
dc.contributor.authorMarshall, C.R.
dc.contributor.authorPinto, D.
dc.contributor.authorNurnberger, J.I.
dc.contributor.authorScherer, S.W.
dc.contributor.authorGeschwind, D.H.
dc.contributor.authorOliveira, G.
dc.contributor.authorVicente, A.M.
dc.date.accessioned2014-05-08T15:02:35Z
dc.date.available2014-05-08T15:02:35Z
dc.date.issued2014-04
dc.description.abstractValidating 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.citationMol Autism. 2014 Apr 10;5(1):28. doi: 10.1186/2040-2392-5-28.por
dc.identifier.issn2040-2392
dc.identifier.otherdoi: 10.1186/2040-2392-5-28
dc.identifier.urihttp://hdl.handle.net/10400.18/2272
dc.language.isoengpor
dc.publisherBioMed Centralpor
dc.relation.publisherversionhttp://www.molecularautism.com/content/5/1/28por
dc.subjectANXA1por
dc.subjectAutismpor
dc.subjectBrain Homeostasispor
dc.subjectCopy Number Variantspor
dc.subjectDuplicationpor
dc.subjectGlucocorticoidspor
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpor
dc.titleRecurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorderspor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPage28por
oaire.citation.titleMolecular Autismpor
oaire.citation.volume5(1)por
rcaap.rightsopenAccesspor
rcaap.typearticlepor

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