Search Results - "Zachi, Elaine Cristina"
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Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport
Published in Frontiers in cellular neuroscience (13-01-2022)“…Biallelic pathogenic variants in TBCK cause encephaloneuropathy, infantile hypotonia with psychomotor retardation, and characteristic facies 3 (IHPRF3). The…”
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Association between language development and auditory processing disorders
Published in Brazilian journal of otorhinolaryngology (01-05-2014)“…It is crucial to understand the complex processing of acoustic stimuli along the auditory pathway; comprehension of this complex processing can facilitate our…”
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Influence of memory, attention, IQ and age on auditory temporal processing tests: preliminary study
Published in CoDAS (São Paulo) (01-03-2014)“…To investigate the existence of correlations between the performance of children in auditory temporal tests (Frequency Pattern and Gaps in Noise--GIN) and IQ,…”
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Memory span measured by the spatial span tests of the Cambridge Neuropsychological Test Automated Battery in a group of Brazilian children and adolescents
Published in Dementia & neuropsychologia (01-06-2011)“…The neuropsychological tests of spatial span are designed to measure attention and working memory. The version of the spatial span test in the Cambridge…”
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Neuropsychological alterations in mercury intoxication persist several years after exposure
Published in Dementia & neuropsychologia (01-06-2008)“…Elemental mercury is a liquid toxic metal widely used in industry. Occupational exposure occurs mainly via inhalation. Previously, neuropsychological…”
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Three generation families: Analysis of de novo variants in autism
Published in European journal of human genetics : EJHG (01-09-2023)“…De novo variants (DNVs) analysis has proven to be a powerful approach to gene discovery in Autism Spectrum Disorder (ASD), which has not yet been shown in a…”
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Actin cytoskeleton dynamics in stem cells from autistic individuals
Published in Scientific reports (24-07-2018)“…Several lines of indirect evidence, such as mutations or dysregulated expression of genes related to cytoskeleton, have suggested that cytoskeletal dynamics, a…”
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FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?
Published in American journal of medical genetics. Part A (01-04-2022)Get full text
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Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes
Published in Clinical genetics (01-01-2022)“…Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration known to contribute to the etiology of autism spectrum disorder (ASD),…”
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Meta‐Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort
Published in Autism research (01-02-2020)“…Large genomic databases of neurodevelopmental disorders (NDD) are helpful resources of genomic variations in complex and heterogeneous conditions, as Autism…”
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A aplicação da neuropsicologia na pesquisa experimental: o exemplo da intoxicação por vapor de mercúrio
Published in Psicologia USP (2006)“…O desenvolvimento da neuropsicologia acompanhou a evolução do estudo do cérebro desde os registros mais antigos. A ciência neuropsicológica faz uso de medidas…”
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Perfil comportamental e competência social de crianças e adolescentes com distrofia muscular de Duchenne
Published in Estudos de psicologia (Natal, Brazil) (01-04-2012)“…A distrofia muscular de Duchenne é uma doença genética caracterizada por enfraquecimento muscular progressivo e degeneração irreversível, acompanhados por…”
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Preliminary Findings on the Effects of Occupational Exposure to Mercury Vapor Below Safety Levels on Visual and Neuropsychological Functions
Published in Journal of occupational and environmental medicine (01-12-2009)“…Objective: To evaluate whether there are visual and neuropsychological decrements in workers with low exposure to Hg vapor. Methods: Visual fields, contrast…”
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Perfil comportamental e competência social de crianças e adolescentes com distrofia muscular de Duchenne
Published in Estudos de psicologia (Natal, Brazil) (01-04-2012)“…A distrofia muscular de Duchenne é uma doença genética caracterizada por enfraquecimento muscular progressivo e degeneração irreversível, acompanhados por…”
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15
A aplicação da neuropsicologia na pesquisa experimental: o exemplo da intoxicação por vapor de mercúrio
Published in Psicologia USP (01-01-2006)“…O desenvolvimento da neuropsicologia acompanhou a evolução do estudo do cérebro desde os registros mais antigos. A ciência neuropsicológica faz uso de medidas…”
Get full text
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