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Advances in Pediatrics, 1994
1. Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) detectable in folate-free culture medium on Xq27.3 called FRA X A, and transcriptional inhibition, through overmethylation, of an mRNA protein-binding gene called FMR-1. 2. It is inherited in an atypical X-linked
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1. Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) detectable in folate-free culture medium on Xq27.3 called FRA X A, and transcriptional inhibition, through overmethylation, of an mRNA protein-binding gene called FMR-1. 2. It is inherited in an atypical X-linked
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Fragile X syndrome and neoplasia
American Journal of Medical Genetics, 1988AbstractAmong 100 males with fragile X [fra(X)] or Martin‐Bell syndrome, two have developed malignancies. The first case, a 57‐year‐old man with fra(X) expression in 12% of peripheral blood lymphocytes, developed a seminoma of the left testis at age 45 years and in the right testis at age 50 years.
M C, Phelan +3 more
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Fragile X syndrome and fragile X-associated tremor ataxia syndrome
2018Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1.
Deborah A, Hall, Elizabeth, Berry-Kravis
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Seminars in Neurology, 2014
Autistic spectrum disorders (ASDs) are characterized by impairments in language, social skills, and repetitive behaviors, often accompanied by intellectual disability. Advances in the genetics of ASDs are providing new glimpses into the underlying neurobiological mechanisms disrupted in these conditions.
Timothy W, Yu, Elizabeth, Berry-Kravis
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Autistic spectrum disorders (ASDs) are characterized by impairments in language, social skills, and repetitive behaviors, often accompanied by intellectual disability. Advances in the genetics of ASDs are providing new glimpses into the underlying neurobiological mechanisms disrupted in these conditions.
Timothy W, Yu, Elizabeth, Berry-Kravis
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Fragile X syndrome and the amygdala
Current Opinion in Neurobiology, 2011Fragile X syndrome (FXS) is the most commonly inherited form of mental impairment and autism. Current understanding of the molecular and cellular mechanisms underlying FXS symptoms is derived mainly from studies on the hippocampus and cortex. However, FXS is also associated with strong emotional symptoms, which are likely to involve changes in the ...
Aparna, Suvrathan, Sumantra, Chattarji
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Neuropharmacology, 2014
Fragile X syndrome (FXS) is a monogenic disorder that is caused by the absence of FMR1 protein (FMRP). FXS serves as an excellent model disorder for studies investigating disturbed molecular mechanisms and synapse function underlying cognitive impairment, autism, and behavioral disturbance. Abnormalities in dendritic spines and synaptic transmission in
Maija L, Castrén, Eero, Castrén
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Fragile X syndrome (FXS) is a monogenic disorder that is caused by the absence of FMR1 protein (FMRP). FXS serves as an excellent model disorder for studies investigating disturbed molecular mechanisms and synapse function underlying cognitive impairment, autism, and behavioral disturbance. Abnormalities in dendritic spines and synaptic transmission in
Maija L, Castrén, Eero, Castrén
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A Family with Fragile-X Syndrome
The Journal of Nervous and Mental Disease, 1984A family with fragile-X syndrome is reported. One sibling has atypical pervasive developmental disorder and moderate mental retardation. A second sibling has Tourette's syndrome, moderate mental retardation, seizure disorder, and autism. A third sibling has attention deficit disorder, moderate mental retardation, and developmental language disorder ...
J, Kerbeshian, L, Burd, J, Martsolf
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Autism and the fragile X syndrome
American Journal of Psychiatry, 1986The fragile X chromosome is an important factor in inherited mental retardation in males. It has also been reported that infantile autism is associated with fragile X. Recently, an article reported an examination of a small sample of autistic children in whom the fragile X chromosome was not found.
G S, Fisch +5 more
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Archivio stomatologico, 1990
The fragile X syndrome include clinical features macroorchidism, ear large, prognathism, elongated facies, speech dysfunction, mental retardation and mitral valve prolapse. The interest for this syndrome is linked to the antibiotic prophylaxis for bacterial secondary endocarditis and bacteremia.
FEMIANO, Felice, COZZOLINO S.
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The fragile X syndrome include clinical features macroorchidism, ear large, prognathism, elongated facies, speech dysfunction, mental retardation and mitral valve prolapse. The interest for this syndrome is linked to the antibiotic prophylaxis for bacterial secondary endocarditis and bacteremia.
FEMIANO, Felice, COZZOLINO S.
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Of mice and the fragile X syndrome
Trends in Genetics, 2003Fragile X syndrome is the most common cause of inherited mental retardation, and recently a number of mouse models have been generated to study the condition. Knockout of the gene associated with fragile X, Fmr1, results in mild, but consistent abnormalities, analogous to the clinical and pathological symptoms observed in human patients.
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