eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | intellectual disability |
| Comorbidity | C0016667|fragile x syndrome |
| Sentences | 14 |
| PubMedID- 25416280 | fragile x syndrome, a common cause of intellectual disability and autism, is due to mutational silencing of the fmr1 gene leading to the absence of its gene product, fragile x mental retardation protein (fmrp). |
| PubMedID- 25849048 | fragile x syndrome, a leading cause of inherited intellectual disability and autism, arises from transcriptional silencing of the fmr1 gene encoding an rna-binding protein, fragile x mental retardation protein (fmrp). |
| PubMedID- 23352156 | fragile x syndrome, a common cause of intellectual disability and autism, is thought to occur due to abnormal regulation of neuronal protein synthesis. |
| PubMedID- 25109237 | fragile x syndrome, the leading cause of inherited intellectual disability and autism, is caused by loss of function of fragile x mental retardation protein (fmrp). |
| PubMedID- 25424470 | fragile x syndrome (fxs) is associated with intellectual disability and behavioral dysfunction, including anxiety, adhd symptoms, and autistic features. |
| PubMedID- 24630283 | Conclusion: the technique can be applied for the rapid screening for fragile x syndrome among patients with intellectual disability. |
| PubMedID- 24876161 | fragile x syndrome, a common cause of intellectual disability and a well-known cause of autism spectrum disorder, is the result of loss or dysfunction of fragile x mental retardation protein (fmrp), a highly selective rna-binding protein and translation regulator. |
| PubMedID- 26020477 | The mutation or silencing of fmrp causes fragile x syndrome (fxs), which leads to intellectual disability and social impairment. |
| PubMedID- 21211940 | Behavioral features of williams beuren syndrome compared to fragile x syndrome and subjects with intellectual disability without defined etiology. |
| PubMedID- 25875842 | Molecular diagnosis of fragile x syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional pakistan. |
| PubMedID- 24733999 | Cyfip family proteins between autism and intellectual disability: links with fragile x syndrome. |
| PubMedID- 24813610 | fragile x syndrome, a common form of inherited intellectual disability, is caused by loss of the fragile x mental retardation protein fmrp. |
| PubMedID- 24875300 | Purpose: fragile x syndrome, a common cause of intellectual disability, is usually caused by cgg trinucleotide expansion in the fmr1 gene. |
| PubMedID- 25016041 | An increasing number of studies implicate the gabaaergic system in the pathophysiology of the fragile x syndrome, a frequent cause of intellectual disability and autism. |
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