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Sensory Processing Phenotypes in Fragile X Syndrome
ASN Neuro, 2018 Fragile X syndrome (FXS) is a neurodevelopmental disorder that causes intellectual disability. It is a leading known genetic cause of autism. In addition to cognitive, social, and communication deficits, humans with FXS demonstrate abnormal sensory ...
Maham Rais +3 more
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European Journal of Human Genetics, 2008 Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the transcriptional silencing of the FMR1 gene, due to an expansion of a CGG repeat found in the 5 ...
Kathryn B, Garber +2 more
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Nature Neuroscience, 2021 Fragile X syndrome (FXS) is caused by the loss of fragile X mental retardation protein (FMRP), an RNA-binding protein that can regulate the translation of specific mRNAs. In this study, we developed an FXS human forebrain organoid model and observed that
Yunhee Kang +21 more
semanticscholar +1 more source
Fragile X Syndrome: From Molecular Aspect to Clinical Treatment
International Journal of Molecular Sciences, 2022 Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the full mutation as well as highly localized methylation of the fragile X mental retardation 1 (FMR1) gene on the long arm of the X chromosome.
D. Protic +7 more
semanticscholar +1 more source
Current Genomics, 2011 Recent data from a national survey highlighted a significant difference in obesity rates in young fragile X males (31%) compared to age matched controls (18%). Fragile X syndrome (FXS) is the most common cause of intellectual disability in males and the most common single gene cause of autism.
McLennan, Yingratana +3 more
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American Journal of Psychiatry, 2022 OBJECTIVE Previous research has demonstrated that the amygdala is enlarged in children with autism spectrum disorder (ASD). However, the precise onset of this enlargement during infancy, how it relates to later diagnostic behaviors, whether the timing of
M. Shen +27 more
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Hyperexcitability and Homeostasis in Fragile X Syndrome
Frontiers in Molecular Neuroscience, 2022 Fragile X Syndrome (FXS) is a leading inherited cause of autism and intellectual disability, resulting from a mutation in the FMR1 gene and subsequent loss of its protein product FMRP.
Xiaopeng Liu +3 more
semanticscholar +1 more source
Fragile X syndrome in children [PDF]
Colombia Medica, 2023 Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities.
David O. Acero-Garcés +4 more
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Chloride imbalance in Fragile X syndrome
Frontiers in Neuroscience, 2022 Developmental changes in ionic balance are associated with crucial hallmarks in neural circuit formation, including changes in excitation and inhibition, neurogenesis, and synaptogenesis.
Kaleb Dee Miles, Caleb Andrew Doll
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Fragile X Syndrome Recognition
Pediatric Neurology Briefs, 1989 The clinical characteristics of 20 children younger than 7½ years of age with the fragile X syndrome were reviewed at the Cincinnati Center for Developmental Disorders, Children’s Hospital Medical Center, University of Cincinnati College of Medicine ...
J Gordon Millichap
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