Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

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dc.contributor.authorJackowski A.P.
dc.contributor.authorLaureano M.R.
dc.contributor.authorDel'Aquilla M.A.
dc.contributor.authorde Moura L.M.
dc.contributor.authorAssuncao I.
dc.contributor.authorSilva I.
dc.contributor.authorSchwartzman J.S.
dc.date.accessioned2024-03-13T01:11:27Z
dc.date.available2024-03-13T01:11:27Z
dc.date.issued2011
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. © 2010 Blackwell Publishing Ltd.
dc.description.firstpage217
dc.description.issuenumber3
dc.description.lastpage236
dc.description.volume24
dc.identifier.doi10.1111/j.1468-3148.2010.00603.x
dc.identifier.issn1360-2322
dc.identifier.urihttps://dspace.mackenzie.br/handle/10899/36997
dc.relation.ispartofJournal of Applied Research in Intellectual Disabilities
dc.rightsAcesso Restrito
dc.subject.otherlanguageDown syndrome
dc.subject.otherlanguageFragile X syndrome
dc.subject.otherlanguagePrader-Willi syndrome
dc.subject.otherlanguageRett syndrome
dc.subject.otherlanguageVelocardiofacial syndrome
dc.subject.otherlanguageWilliams syndrome
dc.titleUpdate on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes
dc.typeArtigo
local.scopus.citations3
local.scopus.eid2-s2.0-79954539272
local.scopus.updated2024-05-01
local.scopus.urlhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=79954539272&origin=inward
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