Results 11 to 20 of about 90,115 (261)
Clinical Science, 1992 An amplification of a highly unstable DNA element has been identified at the fragile X locus in Xq27.3. This sequence appears to be both the source of the primary mutation causing the fragile X syndrome, apparently having its causative effect through the methylation of the FMR-1 HTF island and the region of cytogenetic fragility. The direct analysis of
Hirst, M +4 more
+8 more sources
Cardiovascular Problems in the Fragile X Premutation
Frontiers in Genetics, 2020 There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55–200 CGG repeats in fragile X mental retardation 1 (FMR1) gene.
Nattaporn Tassanakijpanich +6 more
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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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Journal of Neurodevelopmental Disorders, 2014 Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, 'premutation' expansions (55 to 200 repeats) are now gaining increasing recognition as the basis for a spectrum of clinical involvement, from neurodevelopmental problems; to mid-adult ...
Tassone, Flora +2 more
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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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Translational Neuroscience, 2017 Fragile X syndrome (FXS) is the leading genetic cause of autism spectrum disorder (ASD) and inherited intellectual disability (ID) worldwide. Preclinical successes in understanding the biology of FXS have led to numerous translational attempts in human ...
Duy Phan Q., Budimirovic Dejan B.
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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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Journal of Neurodevelopmental Disorders, 2019 Background Fragile X syndrome (FXS) is characterized by a range of developmental, neuropsychiatric, and behavioral symptoms that cause significant impairment in those with the disorder.
Helen Heussler +7 more
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Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients. [PDF]
PLoS ONE, 2015 Over the last several years, evidence has accumulated that the GABAA receptor is compromised in animal models for fragile X syndrome (FXS), a common hereditary form of intellectual disability.
Charlotte D'Hulst +11 more
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