Showing 101 - 120 results of 923 for search '"fragile X syndrome"', query time: 0.55s Refine Results
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    Automatic vocalisation-based detection of fragile X syndrome and Rett syndrome by Florian B. Pokorny, Maximilian Schmitt, Mathias Egger, Katrin D. Bartl-Pokorny, Dajie Zhang, Björn W. Schuller, Peter B. Marschik

    Published 2022-08-01
    “…Abstract Fragile X syndrome (FXS) and Rett syndrome (RTT) are developmental disorders currently not diagnosed before toddlerhood. …”
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    Article
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    Modeling Autism Spectrum Disorder: Fragile X syndrome and Rett syndrome by Colvin, Steve

    Published 2023
    “…We sought to extend the current state of animal models for two of the most prevalent monogenic causes of ASD and investigate their therapeutic potential. Fragile X syndrome is a trinucleotide repeat disorder where repeat expansion in the FMR1 5’ untranslated region triggers its methylation and represses its transcription. …”
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    Thesis
  7. 107

    Epidemiology of fragile X syndrome: a systematic review and meta-analysis. by Hunter, J, Rivero-Arias, O, Angelov, A, Kim, E, Fotheringham, I, Leal, J

    Published 2014
    “…Prevalence estimates for fragile X syndrome vary considerably. This systematic review and meta-analysis was conducted to provide an accurate prevalence estimate for this disorder using primary publications in PubMed, Embase, and the Cochrane library. …”
    Journal article
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    Epidemiology of fragile X syndrome: A systematic review and meta-analysis by Hunter, J, Rivero-Arias, O, Angelov, A, Kim, E, Fotheringham, I, Leal, J

    Published 2014
    “…Prevalence estimates for fragile X syndrome vary considerably. This systematic review and meta-analysis was conducted to provide an accurate prevalence estimate for this disorder using primary publications in PubMed, Embase, and the Cochrane library. …”
    Journal article
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    Translating molecular advances in Down syndrome and Fragile X syndrome into therapies by Faundez, V, De Toma, I, Bardoni, B, Bartesaghi, R, Nizetic, D, de la Torre, R, Kadosh, R, Herault, Y, Dierssen, M, Potier, M-C

    Published 2018
    “…Here we discuss common mechanisms between several intellectual disabilities from genetic origin including Down's and Fragile X syndromes: i) how to model these complex diseases using neuronal cells and brain organoids derived from induced pluripotent stem cells; ii) how to integrate genomic, proteomic and interactome data to help defining common mechanisms and boundaries between diseases; iii) how to target common pathways for designing clinical trials and assessing their efficacy; iv) how to bring new neuro-therapies, such as noninvasive brain stimulations and cognitive training to clinical research. …”
    Journal article
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    Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome by Laura del Hoyo Soriano, Angela John Thurman, Danielle Jenine Harvey, W. Ted Brown, Leonard Abbeduto

    Published 2018-06-01
    “…Abstract Background Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, leading to decreased levels of FMR1 protein (FMRP), which causes the array of neuropsychological impairments that define FXS. …”
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    Article
  18. 118

    Understanding fragile X syndrome from a mother's perspective: Challenges and resilience by Chantel Lynette Weber

    Published 2016-04-01
    “…The purpose of this study is to communicate findings from a case study on a South African mother with three children diagnosed with full mutation fragile X syndrome (FXS). The participant is an unaffected carrier of FXS. …”
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    Article
  19. 119

    Gene Expression Profiles in a Transgenic Animal Model of Fragile X Syndrome by Velia D'Agata, Stephen T. Warren, Weiqin Zhao, Enrique R. Torre, Daniel L. Alkon, Sebastiano Cavallaro

    Published 2002-08-01
    “…Fragile X syndrome is the most common inherited form of mental retardation. …”
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    Article
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