Update on clinical features and brain abnormalities in neurogenetics syndromes

By: Jackowski, Andrea Parolin.
Contributor(s): Laureano, Maura Regina | Del'Aquilla, Marco Antonio | et al.
Series: Journal of Applied Research in Intellectual Disabilities 24 (3) 2011: 217-236.Publisher: 2011Content type: text Media type: unmediated Carrier type: volume Subject(s): VELOCARDIOFACIAL SYNDROME | NEUROBIOLOGY | COGNITIVE DYSFUNCTION | BEHAVIOUR DISORDERS | WILLIAMS SYNDROME | RETT SYNDROME | FRAGILE X SYNDROME | PRADER WILLI SYNDROME | ANGELMAN SYNDROME | DOWN SYNDROMESummary: Believes that neuroimaging 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. 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.
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Believes that neuroimaging 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. 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.

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