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101
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
Published 2019-12-01Subjects: “…Fragile X syndrome…”
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102
Automatic vocalisation-based detection of fragile X syndrome and Rett syndrome
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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103
Advancing artificial intelligence-assisted pre-screening for fragile X syndrome
Published 2022-06-01Subjects: “…Fragile X syndrome…”
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104
Early Identification of Fragile X Syndrome through Expanded Newborn Screening
Published 2019-01-01Subjects: “…fragile X syndrome…”
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105
Editorial: Recent advances in mechanisms and therapeutics for Fragile X Syndrome and autism
Published 2023-05-01Subjects: Get full text
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106
Modeling Autism Spectrum Disorder: Fragile X syndrome and Rett syndrome
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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107
Epidemiology of fragile X syndrome: a systematic review and meta-analysis.
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. …”
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108
Epidemiology of fragile X syndrome: A systematic review and meta-analysis
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. …”
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109
Translating molecular advances in Down syndrome and Fragile X syndrome into therapies
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. …”
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110
Behavior Problems and Social Competence in Fragile X Syndrome: A Systematic Review
Published 2022-01-01Subjects: Get full text
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111
Spontaneous Coronary Artery Dissection in a female patient with fragile X syndrome
Published 2017-12-01Subjects: Get full text
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112
Updated report on tools to measure outcomes of clinical trials in fragile X syndrome
Published 2017-06-01Subjects: “…Fragile X syndrome…”
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113
Myelination Deficits in the Auditory Brainstem of a Mouse Model of Fragile X Syndrome
Published 2021-11-01Subjects: Get full text
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114
Translation-relevant EEG phenotypes in a mouse model of Fragile X Syndrome
Published 2018-07-01Subjects: “…Fragile X Syndrome…”
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115
Behavioral inflexibility in fragile X syndrome: Accounts from caregivers and self-advocates
Published 2023-02-01Subjects: Get full text
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116
Mindfulness and Acceptance as Potential Protective Factors for Mothers of Children With Fragile X Syndrome
Published 2018-11-01Subjects: Get full text
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117
Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome
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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118
Understanding fragile X syndrome from a mother's perspective: Challenges and resilience
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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119
Gene Expression Profiles in a Transgenic Animal Model of Fragile X Syndrome
Published 2002-08-01“…Fragile X syndrome is the most common inherited form of mental retardation. …”
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120
Gaboxadol Normalizes Behavioral Abnormalities in a Mouse Model of Fragile X Syndrome
Published 2019-06-01“…Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and autism. …”
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Article