Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance
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چکیده
منابع مشابه
Comparison of Motor Skills in At-risk with Autism Spectrum Disorder Children with Autism Spectrum Disorder and Typical Development Children
Background: Autism Spectrum Disorder (ASD) is a complex developmental disorder characterized by repetitive and stereotypical patterns, and difficulties with social communication and interaction in early childhood. Motor development and dysfunction in children with ASD has been the subject of study in recent years and has attracted much of the attention of researchers. As motor dysfunctions can ...
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So far, virtually no study has ever investigated color preference in children with autism spectrum disorder (ASD). In order to address this issue, 29 boys with ASD varying in age between 4 and 17 years, and 38 age-matched typically developing (TD) boys were studied regarding their preference among six colors: red, pink, yellow, brown, green, and blue, in clinical settings. When mean rank of pre...
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Autism spectrum disorder is associated with an altered early brain development. However, the specific cortical structure abnormalities underlying this disorder remain largely unknown. Nonetheless, atypical cortical folding provides lingering evidence of early disruptions in neurodevelopmental processes and identifying changes in the geometry of cortical sulci is of primary interest for characte...
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Truncating mutations of chromodomain helicase DNA-binding protein 8 (CHD8), and of many other genes with diverse functions, are strong-effect risk factors for autism spectrum disorder (ASD), suggesting multiple mechanisms of pathogenesis. We explored the transcriptional networks that CHD8 regulates in neural progenitor cells (NPCs) by reducing its expression and then integrating transcriptome s...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2019
ISSN: 2324-9269
DOI: 10.1002/mgg3.507