Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with...
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile...
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FMR1 (redirect from Fragile X mental retardation 1)
female reproductive function. Mutations of this gene can lead to fragile X syndrome, intellectual disability, premature ovarian failure, autism, Parkinson's...
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Repeated sequence (DNA) (section Fragile X syndrome)
resulting in neurodegeneration. Fragile X syndrome is caused by the expansion of the DNA sequence CCG in the FMR1 gene on the X chromosome. This gene produces...
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Metadoxine (section Fragile X syndrome)
studies of metadoxine in relation to human exposure, Alcobra said. Fragile X syndrome (FXS) is a genetic disorder that is the most common single gene cause...
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Turner syndrome (TS), commonly known as 45,X, or 45,X0, is a chromosomal disorder in which cells have only one X chromosome or are partially missing an X chromosome...
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these diseases demonstrated this relationship. In 1991, for fragile X syndrome, the fragile X mental retardation 1 (FMR-1) gene was found to contain a CGG...
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pinched and fragile when under a microscope. Fragile X syndrome affects about two to five percent of people with ASD. If one child has Fragile X, there is...
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Moss, J. (December 2021). "Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence". Journal of...
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Clinically, the most important rare fragile site is FRAXA in the FMR1 gene, which is associated with the fragile X syndrome, the most common cause of hereditary...
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David L. Nelson (section Fragile X syndrome)
disorders. Their findings in FMR1 explained the unusual inheritance in Fragile X syndrome and provided the principles for all subsequent unstable repeat disorders...
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Foster–Kennedy syndrome Fountain syndrome Foville's syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome Franceschetti–Klein syndrome Frank–ter...
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large testes. The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual...
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refer to: Fluctuation X-ray scattering, scientific technique Foreign exchange station, telephone terminology Fragile X syndrome, genetic disorder Toyota...
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development include genetic disorders such as Down syndrome, Fragile X syndrome and GLUT1 Deficiency Syndrome; childhood infections such as meningitis or encephalitis...
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a character in the Bucky O'Hare fictional universe FraX, an abbreviation for Fragile X Syndrome or the associated gene FRAX, a tool for assessing risk...
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Macrocephaly (redirect from Learman syndrome)
known as basal cell nevus syndrome) and cardiofaciocutaneous syndrome; Fragile X syndrome; leukodystrophies (brain white matter degeneration) such as Alexander...
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Gamma wave (section Fragile X syndrome)
pathology is unknown. Hypersensitivity and memory deficits due to Fragile X syndrome may be linked to gamma rhythm abnormalities in the sensory cortex...
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neurodevelopmental disorders through a mechanistic understanding of fragile X syndrome and Williams syndrome". Current Opinion in Neurology (Review). 25 (2): 112–24...
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term used to describe the anomalous pattern of inheritance found in fragile X syndrome. The phenomenon is also referred to as anticipation or dynamic mutation...
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researching the causes of and treatments for autism spectrum disorders, fragile X syndrome, and other neurodevelopmental disorders. The director of the MIND...
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Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
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trinucleotide repeat disease to be identified was fragile X syndrome, which has since been mapped to the long arm of the X chromosome. Patients carry from 230 to...
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Zatolmilast is a investigational new drug that is being evaluated to treat fragile X syndrome. It is a PDE4D allosteric inhibitor. "Zatolmilast - Tetra Therapeutics"...
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Fountain syndrome Fournier gangrene Fowler–Christmas–Chapele syndrome Fowler's syndrome Fox–Fordyce disease Fragile X syndrome Fragile X syndrome type 1...
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Unstable DNA sequence (section Fragile X syndrome)
fragile X syndrome found that the FMR1 gene has an unstable CGG trinucleotide repeat sequence in its promoter region. Individuals with this syndrome have...
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rickets: X-linked hypophosphatemia Rett syndrome (95% of cases are due to sporadic mutations) Fragile-X Syndrome Most cases of Alport syndrome Incontinentia...
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Sex linkage (redirect from X-linked)
particular parent's X chromosomes are inactivated in females.[citation needed] Alport syndrome Coffin–Lowry syndrome (CLS) Fragile X syndrome Idiopathic hypoparathyroidism...
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name AFQ-056) is an experimental drug candidate for the treatment of fragile X syndrome and other conditions. It exerts its effect as an antagonist of the...
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History of autism (section Fragile X syndrome)
Julia Bell described a pedigree of X-linked intellectual disability. This would later be called Fragile X syndrome, and is now considered one of the genetic...
288 KB (32,202 words) - 17:21, 16 November 2024