نتایج جستجو برای: fragile x syndrome
تعداد نتایج: 1201318 فیلتر نتایج به سال:
We investigated the receptive language of adolescents and young adults with Down syndrome (n = 25) or fragile X syndrome (n = 19). We were interested in syndrome differences and gender differences within fragile X. Comparison of the syndromes and MA-matched typically developing children (n = 24) revealed that individuals with the syndromes differed in relative achievements across the domains of...
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A ...
BACKGROUND Research on parental well-being has focused largely on Down syndrome and autism; however, fragile X syndrome is likely to pose different challenges for parents compared with these other diagnostic conditions. Moreover, there is considerable variability among youth with fragile X syndrome; for example, 25% to 33% of affected youth meet criteria for a co-morbid diagnosis of autism. It ...
Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limited to fragile X syndrome, is now well established as the cause for other fragile X-associated disorders including fragile X-associated primary ova...
The most common cause of fragile X syndrome is expansion of a CGG trinucleotide repeat in the 5'UTR of FMR1. This expansion leads to transcriptional silencing of the gene. However, other mutational mechanisms, such as deletions of FMR1, also cause fragile X syndrome. The result is the same for both the expansion mediated silencing and deletion, absence of the gene product, FMRP. We report here ...
Fragile X syndrome, the most common form of hereditary mental retardation, causes disruption in the development of dendrites and synapses, the targets for axonal growth in the central nervous system. This disruption could potentially affect the development, wiring, and targeting of axons. The current study utilized diffusion tensor imaging (DTI) to investigate whether white matter tract integri...
INTRODUCTION Fragile X syndrome is a well-recognised cause of developmental delay in males and to a lesser extent females. The aim of the present study was to present a detailed cognitive and behaviour analysis of the core attention impairments frequently associated with fragile X. PATIENTS AND METHODS Two complementary studies were conducted. Study 1 examined the severity and range of behavi...
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