Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55...
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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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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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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...
31 KB (3,680 words) - 02:31, 29 July 2024
syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing an X...
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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...
61 KB (7,973 words) - 04:54, 27 May 2024
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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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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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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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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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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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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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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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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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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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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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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Beckwith–Wiedemann syndrome CLOVES syndrome Fragile X syndrome Klippel–Trénaunay syndrome Macrocephaly-capillary malformation Neurofibromatosis Proteus syndrome Simpson–Golabi–Behmel...
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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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Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder...
149 KB (14,898 words) - 15:55, 25 August 2024
syndrome Turner syndrome Noonan syndrome Patau syndrome DiGeorge syndrome Cri du chat syndrome Edwards syndrome Fragile X syndrome Okamoto syndrome It...
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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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Apert syndrome Crouzon syndrome Down syndrome Ehlers-Danlos Syndrome Friedreich's ataxia Fragile X syndrome Incontinentia pigmenti Marfan syndrome Sotos...
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mellitus, pernicious anemia, genetic disorders such as Turner syndrome and Fragile X syndrome, metabolic defects, and enzyme defects. One study showed a...
42 KB (4,796 words) - 02:08, 6 September 2024
List of genetic disorders (redirect from List of genetic syndromes)
SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD". omim.org. Retrieved 2019-04-16. "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim...
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palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests...
87 KB (8,888 words) - 20:45, 14 August 2024
little to no mRNA or protein from the FMR1 gene and are affected with Fragile X syndrome. Primary ovarian insufficiency requires that a diagnosis be made prior...
20 KB (2,193 words) - 23:45, 3 December 2023
research explaining the age/effect relation. Fragile X syndrome: A 2015 Cochrane review of ALCAR in fragile X syndrome found only two placebo-controlled trials...
16 KB (1,818 words) - 08:53, 9 July 2024