|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
The FMR1 gene is associated with a wide range of clinical and cognitive phenotypes, ranging from intellectual disability and autism symptoms in fragile X syndrome (caused by the FMR1 full mutation), to a more varied, and still poorly understood range of clinical and cognitive phenotypes among carriers of the gene in its premutation state.
|
31765665 |
2020 |
|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
The loss of FMRP causes dysregulation of many neuronal pathways and results in an intellectual disability disorder, fragile X syndrome (FXS).
|
30759772 |
2019 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The functional absence of FMRP causes the fragile X syndrome (FXS), the most common form of inherited intellectual disability and the most common monogenic cause of autism.
|
30137253 |
2019 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome (FXS) caused by loss of fragile X mental retardation protein (FMRP), is the most common cause of inherited intellectual disability.
|
30478144 |
2019 |
|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regulatory complex (WRC).
|
30664714 |
2019 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X mental retardation 1 (FMR1) CGG repeat expansions cause fragile X syndrome-the leading monogenic form of intellectual disability-and increase the risk for fragile X-associated tremor ataxia syndrome and fragile X-associated primary ovarian insufficiency.
|
30847793 |
2019 |
|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
The absence of FMRP leads to symptoms of FXS including intellectual disability and has been proposed to lead to abnormalities in synaptic plasticity.
|
31539452 |
2019 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders.
|
31280136 |
2019 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Its main pathogenic gene is fragile X mental retardation 1 (FMR1) gene associated with intellectual disability, autism, and fragile X-related primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS).
|
31191598 |
2019 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Lack or mutations of FMRP lead to Fragile X Syndrome (FXS), the most common form of inherited intellectual disability and a leading monogenic cause of autism spectrum disorder (ASD).
|
30905341 |
2019 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The fragile X syndrome (FXS) arises from loss of expression or function of the FMR1 gene and is one of the most common monogenic forms of intellectual disability and autism.
|
29796988 |
2019 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome, the most common inherited form of intellectual disability, is caused by the CGG trinucleotide expansion in the 5'-untranslated region of the Fmr1 gene on the X chromosome, which silences the expression of the fragile X mental retardation protein (FMRP).
|
31112584 |
2019 |
|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
<b>Methodology</b>: The present study utilizes Triplet Primed-Polymerase Chain Reaction (TP-PCR) methodology for detecting the repeat expansion at FMR1 gene in 233 Indian intellectual disability/developmental delay (ID/DD) patients.
|
31159589 |
2019 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Importantly, FMRP loss-of-function leads to Fragile X syndrome (FXS), a rare genetic developmental condition causing a range of neurological alterations including intellectual disability (ID), learning and memory impairments, autistic-like features and seizures.
|
31822816 |
2019 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1.
|
29325626 |
2018 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Loss of functional FMRP leads to Fragile X syndrome (FXS), the most common inherited form of intellectual disability.
|
30107516 |
2018 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X Syndrome (FXS) is the leading cause of autism spectrum disorder and intellectual disability and results from loss of Fragile X mental retardation protein (FMRP).
|
29128904 |
2018 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome (FXS), the most common form of inherited intellectual disability (ID) and a leading cause of autism, results from the loss of expression of the <i>Fmr1</i> gene which encodes the RNA-binding protein Fragile X Mental Retardation Protein (FMRP).
|
30319351 |
2018 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Twenty individuals reported previously with rare missense or nonsense mutations or other coding disturbances of the FMR1 gene ranged in age from infancy to 50 years; most were verbal with limited speech, had autism and hyperactivity, and all had intellectual disability.
|
29178241 |
2018 |
|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Synaptic dysfunction hypotheses for how intellectual disabilities like cognitive inflexibility arise in FXS predict impaired neural coding in the absence of FMRP.
|
29358017 |
2018 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Silencing expression of the Fragile X mental retardation 1 (<i>FMR1</i>) gene leads to Fragile X syndrome (FXS), the most common single gene cause of ID and ASD.
|
30135642 |
2018 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A global loss of the fragile X mental retardation protein (FMRP; encoded by the Fmr1 gene) leads to sensory dysfunction and intellectual disabilities.
|
29950504 |
2018 |
|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
This gene has previously been implicated in intellectual disability and is apparently linked to FMR1 and NEFH overexpression associated with neurological disorders.
|
30567555 |
2018 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and is caused by an expansion of cytosine-guanine-guanine (CGG) repeats in the FMR1 gene.
|
29603880 |
2018 |
|
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome (FXS), the most common genetic form of intellectual disability in males, is caused by silencing of the FMR1 gene associated with hypermethylation of the CGG expansion mutation in the 5' UTR of FMR1 in FXS patients.
|
29456084 |
2018 |