|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
<b>Background</b>: Fragile X Syndrome (FXS), the most common cause of inherited intellectual disability (ID), is caused by a CGG repeat expansion (full mutation (FM), >200 CGG) at the Fragile X Mental Retardation 1 (FMR1) gene.
|
31159589 |
2019 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
(CGG)(n) repeat expansion in the FMR1 gene is associated with fragile X syndrome and other disorders.
|
20616364 |
2010 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
23 male patients affected by Fragile X syndrome (full mutation in the FMR1 gene) and 24 controls were included in the study.
|
26712713 |
2016 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fragile X syndrome is caused by the absence of the fragile X mental retardation protein (FMRP).
|
10196376 |
1999 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome with FMR1 and FMR2 deletion.
|
10424820 |
1999 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome is associated with the expansion of the number of CGG trinucleotide tandem repeats at the 5' untranslated region of the FMR1 gene.
|
10447261 |
1999 |
|
Fragile X Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Fragile-X syndrome is due to an expression of CGG trinucleotide repeats in the 5' untranslated region of the FMR1 gene and it is the most common cause of heritable X-linked mental retardation.
|
10495931 |
1999 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome is caused by expansion of a d(CGG) trinucleotide repeat sequence in the 5' untranslated region of the first exon of the FMR1 gene.
|
10710419 |
2000 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome (FRAXA) is characterized at the molecular level by an expansion of a naturally occurring 5'-(CGG)(n)-3' repeat in the promoter and 5'-untranslated region (5'-UTR) of the fragile X mental retardation (FMR1) gene on human chromosome Xq27.3.
|
10773084 |
2000 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome (FXS) is the most common form of familial mental retardation (MR), attributable to (CGG)n expansion in the FMR1 gene.
|
10850542 |
2000 |
|
Fragile X Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Fragile X syndrome is caused by the absence of expression of the FMR1 gene.
|
10912798 |
2000 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome normally arises as a consequence of large expansions (n >200) of a (CGG)(n) trinucleotide repeat in the promoter region of the FMR1 gene.
|
10995510 |
2000 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome is a triplet repeat disorder caused by expansions of a CGG repeat in the fragile X mental retardation gene (FMR1) to more than 220 triplets (full mutation) that usually coincide with hypermethylation and transcriptional silencing.
|
11073538 |
2000 |
|
Fragile X Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
FXS is caused by inactivation of the FMR1 gene located on Xq27.3.
|
11180223 |
2000 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome is caused by a large expansion of this CGG repeat (full mutation) that leads to silencing of the FMR1 gene so no gene product (FMRP) is made.
|
11262423 |
2001 |
|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fragile X syndrome is almost always caused by the absence or deficit of the FMR1 protein (FMRP).
|
11449486 |
2000 |
|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fragile X syndrome is caused by the absence of protein FMRP, the function of which is still poorly understood.
|
11532944 |
2001 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome is caused by the expansion of the CGG repeat in the 5' untranslated region of the FMR1 gene.
|
12107447 |
2002 |
|
Fragile X Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Fragile X syndrome is caused by loss of FMR1 protein expression.
|
12446764 |
2002 |
|
Fragile X Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Fragile X syndrome is caused by loss of expression of FMRP, a protein proposed to act as a regulator of mRNA translation which promotes synaptic maturation and function.
|
12498706 |
2002 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome is a trinucleotide repeat disorder in which a (CGG)n element located within the 5' untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene expands to more than 200 copies (full mutation) and becomes hypermethylated.
|
14526172 |
2003 |
|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Fragile X syndrome is caused by the absence of the mRNA-binding protein Fragile X mental retardation protein (FMRP), which may play a role in activity-regulated localization and translation of mRNA in dendrites and at synapses.
|
15028757 |
2004 |
|
Fragile X Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Fragile X syndrome is a neurodevelopmental disorder that is caused by large methylated expansions of a CGG repeat (>200) region upstream of the FMR1 gene that results in the lack of expression of the fragile X mental retardation protein (FMRP).
|
15629215 |
2005 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome (FXS) is primarily due to a repeat expansion mutation found in the FMR1 X-linked gene.
|
16047092 |
2005 |