نتایج جستجو برای: fragile x syndrome
تعداد نتایج: 1201318 فیلتر نتایج به سال:
The fragile X syndrome is a common X-linked mental retardation and autism, affecting females as well as males. The fragile site X chromosomes were studied in a series of 153 mentally retarded boys of unknown etiology to determine the frequency of fragile X syndrome, and to assess the feasibility of making a clinical diagnosis of the fragile X syndrome in young boys before cytogenetic results we...
In this study, the authors compared the phonological accuracy and patterns of sound change of boys with fragile X syndrome, boys with Down syndrome, and typically developing mental-age-matched boys. Participants were 50 boys with fragile X syndrome, ages 3 to 14 years; 32 boys with Down syndrome, ages 4 to 13 years; and 33 typically developing boys, ages 2 to 6 years, who were matched for nonve...
The aim of this study was to examine executive function (EF) skills in girls with fragile X or Turner syndrome, using the Contingency Naming Test (CNT). The CNT is a Stroop-like task involving a 1- or 2-attribute contingency rule. We predicted that girls with fragile X would make errors reflecting poor cognitive flexibility and working memory limitations. We predicted that girls with Turner syn...
Fragile X syndrome is the most frequent form of inherited mental retardation and is associated with a fragile site at Xq27.3. We identified human YAC clones that span fragile X site-induced translocation breakpoints coincident with the fragile X site. A gene (FMR-1) was identified within a four cosmid contig of YAC DNA that expresses a 4.8 kb message in human brain. Within a 7.4 kb EcoRI genomi...
Deficits in cognitive functions lead to mental retardation (MR). Understanding the genetic basis of inherited MR has provided insights into the pathogenesis of MR. Fragile X syndrome is one of the most common forms of inherited MR, caused by the loss of functional Fragile X Mental Retardation Protein (FMRP). MicroRNAs (miRNAs) are endogenous, single-stranded RNAs between 18 and 25 nucleotides i...
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