|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In addition, we showed that Fragile X Mental Retardation gene 1 (Fmr1), which is mutated in the autism spectrum disorder fragile X syndrome, is an important regulatory target for miR-129-5p.
|
30911036 |
2019 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Premutation carriers of the FMR1 gene (CGG repeats between 55 and 200) usually have normal intellectual abilities but approximately 20% are diagnosed with developmental problems or autism spectrum disorder.
|
30385191 |
2019 |
|
Pervasive Development Disorder
|
0.100 |
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 |
|
Pervasive Development Disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Neuronal deficit of FMRP and shrinkage of affected neurons in structures free of FMRP-positive astrocytes and regions infiltrated with FMRP-expressing astrocytes appear to reflect mechanistic, neuropathological, and functional commonalities of FMRP abnormalities in FXS and autism spectrum disorder.Autism Res 2018, 11: 1316-1331.
|
30107092 |
2018 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the fragile X mental retardation 1 gene (<i>FMR1</i>) cause the most common inherited human autism spectrum disorder.
|
30115809 |
2018 |
|
Pervasive Development Disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Gene-set analysis shows association between FMRP targets and autism spectrum disorder.
|
28422133 |
2017 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile-X syndrome (FXS) patients display intellectual disability and autism spectrum disorder due to silencing of the X-linked, fragile-X mental retardation-1 (FMR1) gene.
|
29116166 |
2017 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X Syndrome (FXS) is a pervasive developmental disorder due to a mutation in the FMR1 X-linked gene.
|
27939692 |
2017 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The absence of fragile X mental retardation 1 protein (FMRP) results in fragile X syndrome (FXS) that is a common cause of intellectual disability and a variant of autism spectrum disorder.
|
26709905 |
2016 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Large expansions of a CGG-repeat element (>200 repeats; full mutation) in the fragile X mental retardation 1 (FMR1) gene cause fragile X syndrome (FXS), the leading single-gene form of intellectual disability and of autism spectrum disorder.
|
24463622 |
2014 |
|
Pervasive Development Disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies.
|
24207117 |
2013 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.
|
22001913 |
2012 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are associated with autism spectrum disorder in childhood, premature ovarian failure, and the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS).
|
17166860 |
2007 |