Complex neurodevelopmental disorder
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Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex heritability and higher prevalence in males. The neonatal epigenome has the potential to reflect past interactions between genetic and environmental factors during early development and influence future health outcomes.
25p vibransone 28-03-2024 5 1 Download
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The next-generation sequencing revolution has substantially increased our understanding of the mutated genes that underlie complex neurodevelopmental disease. Exome sequencing has enabled us to estimate the number of genes involved in the etiology of neurodevelopmental disease, whereas targeted sequencing approaches have provided the means for quick and cost-effective sequencing of thousands of patient samples to assess the significance of individual genes.
9p vioraclene 31-03-2024 5 2 Download
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Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association remains to be confirmed.
24p vicwell 29-02-2024 1 1 Download
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Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies.
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Studies involving the analysis of structural variation including Copy Number Variation (CNV) have recently exploded in the literature. Furthermore, CNVs have been associated with a number of complex diseases and neurodevelopmental disorders.
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Autism spectrum disorders (ASD) refer to a range of neurodevelopmental conditions, which are genetically complex and heterogeneous with most of the genetic risk factors also found in the unafected general population.
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Autism spectrum disorders (ASD) are hereditary, heterogeneous and biologically complex neurodevelopmental disorders. Individual studies on gene expression in ASD cannot provide clear consensus conclusions. Therefore, a systematic review to synthesize the current findings from brain tissues and a search tool to share the meta-analysis results are urgently needed.
8p viflorida2711 30-10-2020 16 1 Download
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Several subunits of the SWI/SNF chromatin remodeling complex are implicated in both cancer and neurodevelopmental disorders (NDD). Though there is no clinical evidence for an increased tumor risk in individuals with NDDs due to germline mutations in most of these genes so far, this has been repeatedly proposed and discussed.
6p vikuala271 13-06-2020 22 0 Download
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Rett Syndrome (RTT) is a complex neurodevelopmental disorder, frequently associated with epilepsy. Despite increasing recognition of the clinical heterogeneity of RTT and its variants (e.g Classical, Hanefeld and PSV(Preserved Speech Variant)), the link between causative mutations and observed clinical phenotypes remains unclear.
15p vidublin2711 13-01-2020 15 1 Download
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Gilles de la Tourette syndrome (TS) is a complex developmental neuropsychiatric condition in which motor manifestations are often accompanied by comorbid conditions that impact the patient’s quality of life. In the DSM-5, TS belongs to the “neurodevelopmental disorders” group, together with other neurodevelopmental conditions, frequently co-occurring.
12p vimoskva2711 30-12-2019 9 0 Download
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Neurodevelopment is a dynamic and complex process, which involves interactions of thousands of genes. Understanding the mechanisms of brain development is important for uncovering the genetic architectures of neurodevelopmental disorders such as autism spectrum disorder and intellectual disability.
9p nutifooddau 27-01-2019 14 1 Download
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Increasing evidence suggests that serious mental illness is neurodevelopmental and the onset of pre-psychotic symptoms occurs in adolescence, at a time when the cerebral cortex is still developing. As with many complex disorders (e.g. hypertension, epilepsy, and diabetes), there appear to be many aetiological pathways that might lead to the final mixture of behavioral signs and symptoms we label ‘schizophrenia’.
520p wqwqwqwqwq 20-07-2012 55 7 Download