Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

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dc.contributor.authorJackowski, Andrea Parolin [UNIFESP]
dc.contributor.authorLaureano, Maura Regina [UNIFESP]
dc.contributor.authorDel'Aquilla, Marco Antonio [UNIFESP]
dc.contributor.authorMoura, Luciana Monteiro de [UNIFESP]
dc.contributor.authorAssuncao, Idaiane [UNIFESP]
dc.contributor.authorSilva, Ivaldo [UNIFESP]
dc.contributor.authorSchwartzman, Jose Salomao
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniv Mackenzie
dc.date.accessioned2016-01-24T14:16:44Z
dc.date.available2016-01-24T14:16:44Z
dc.date.issued2011-05-01
dc.description.abstractNeuroimaging methods represent a critical tool in efforts to join the study of the neurobiology of genes with the neurobiology of behaviour, and to understand the neurodevelopmental pathways that give rise to cognitive and behavioural impairments. This article reviews the clinical features and highlights studies with a focus on the relevant gene-brain-behaviour connections observed in neurogenetic syndromes, such as Williams, Rett, Fragile X, Prader-Willi, Angelman, Down and velocardiofacial (22q11.2 deletion) syndromes. the relationship of altered brain regions and activation patterns are discussed for each syndrome, as well as the clinical, cognitive and behavioural correlates of these neuroimaging findings.en
dc.description.affiliationUniversidade Federal de São Paulo, Dept Psychiat, LiNC, São Paulo, Brazil
dc.description.affiliationUniv Mackenzie, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Psychiat, LiNC, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent217-236
dc.identifierhttp://dx.doi.org/10.1111/j.1468-3148.2010.00603.x
dc.identifier.citationJournal of Applied Research in Intellectual Disabilities. Hoboken: Wiley-Blackwell, v. 24, n. 3, p. 217-236, 2011.
dc.identifier.doi10.1111/j.1468-3148.2010.00603.x
dc.identifier.issn1360-2322
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/33690
dc.identifier.wosWOS:000289470000004
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofJournal of Applied Research in Intellectual Disabilities
dc.rightsAcesso restrito
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.subjectDown syndromeen
dc.subjectFragile X syndromeen
dc.subjectPrader-Willi syndromeen
dc.subjectRett syndromeen
dc.subjectvelocardiofacial syndromeen
dc.subjectWilliams syndromeen
dc.titleUpdate on Clinical Features and Brain Abnormalities in Neurogenetics Syndromesen
dc.typeArtigo
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