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An integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum Disorder

2017-10Conference object Restricted access
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dc.contributor.authorAsif, M
dc.contributor.authorMartiniano, Hugo F.
dc.contributor.authorRasga, Celia
dc.contributor.authorMarques, Ana R.
dc.contributor.authorSantos, Joao X.
dc.contributor.authorO., Guiomar
dc.contributor.authorCouto, Francisco M.
dc.contributor.authorVicente, Astrid M.
dc.date.accessioned2017-12-12T14:41:55Z
dc.date.available2017-12-12T14:41:55Z
dc.date.issued2017-10
dc.description.abstractIntroduction: Autism Spectrum Disorder (ASD) is characterized by deficits in social interaction and communication, and by the presence of repetitive behavior and/or restricted interests. ASD manifests with heterogeneous phenotype and has an estimated global prevalence of ~1%;- ASD is difficult to diagnose in very young children. Delayed diagnosis leads to delay in applying behavioral therapies that may help to reduce symptoms, particularly when applied at young age; - Copy Number Variant (CNV) screening has been widely used for primary diagnosis purposes and is associated with phenotypic variability in ASD patients; - Large scale studies have identified hundreds of ASD implicated loci; however, mechanistic and clinical interpretation of these disease-causing variants remains elusive.pt_PT
dc.description.sponsorshipMA is supported by the Fundação para a Ciência e Tecnologia, Portugal (SFRH/BD/52485/2014). Patients and parents were genotyped in the context of the Autism Genome Project (AGP), funded by NIMH, HRB, MRC, Autism Speaks, Hilibrand Foundation, Genome Canada, OGI, CIHR.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/4852
dc.language.isoengpt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.subjectAutism Spectrum Disorderpt_PT
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpt_PT
dc.subjectAutismopt_PT
dc.titleAn integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum Disorderpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceBeja, Portugalpt_PT
oaire.citation.title2nd BioSys Retreat 2017, 6-7 October, 2017pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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