FAQ

Fragile X Syndrome

Known as: FXS, Syndrome, Fragile X, Syndromes, Marker X 
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1981-2017
010020019812017

Related topics

Related topics

35 relations
Abnormal head movementsAutism Spectrum DisordersChromosome Fragile SitesChromosome Fragility
(More)

Broader (5)

Chromosome AberrationsCongenital chromosomal diseaseMental RetardationSex Chromosome Aberrations
(More)

Narrower (4)

FRAGILE X TREMOR/ATAXIA SYNDROMEFRAXA SyndromeFRAXE SyndromeSaul Wilkes Stevenson syndrome

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Fragile X Syndrome
Seizures
Hyperactive behavior
radiotherapeutic
Hereditary Diseases
Chromosome Aberrations

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Development of prenatal screening--A historical overview.
The first prenatal screening test to be introduced was based on a single maternal serum marker of neural tube defects. Since then… (More)
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Highly Cited
2010
Highly Cited
2010
Dysregulation of mTOR signaling in fragile X syndrome.
Fragile X syndrome, the most common form of inherited mental retardation and leading genetic cause of autism, is caused by… (More)
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Highly Cited
2007
Highly Cited
2007
Correction of Fragile X Syndrome in Mice
Fragile X syndrome (FXS) is the most common form of heritable mental retardation and the leading identified cause of autism. FXS… (More)
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Highly Cited
2002
Highly Cited
2002
Altered synaptic plasticity in a mouse model of fragile X mental retardation.
Fragile X syndrome, the most common inherited form of human mental retardation, is caused by mutations of the Fmr1 gene that… (More)
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Highly Cited
2001
Highly Cited
2001
Microarray Identification of FMRP-Associated Brain mRNAs and Altered mRNA Translational Profiles in Fragile X Syndrome
Fragile X syndrome results from the absence of the RNA binding FMR protein. Here, mRNA was coimmunoprecipitated with the FMRP… (More)
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Highly Cited
1992
Highly Cited
1992
DNA methylation represses FMR-1 transcription in fragile X syndrome.
Fragile X syndrome is the most frequent form of inherited mental retardation and segregates as an X-linked dominant with reduced… (More)
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Highly Cited
1991
Highly Cited
1991
Prevalence of fragile X syndrome.
The much-quoted prevalence figure of 1:1,000 males for fragile X syndrome is an overestimate in a mixed ethnic population. A… (More)
Is this relevant?
Highly Cited
1991
Highly Cited
1991
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
Fragile X syndrome is the most frequent form of inherited mental retardation and is associated with a fragile site at Xq27.3. We… (More)
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Highly Cited
1991
Highly Cited
1991
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.
The fragile X syndrome, a common cause of inherited mental retardation, is characterized by an unusual mode of inheritance… (More)
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Highly Cited
1991
Highly Cited
1991
Absence of expression of the FMR-1 gene in fragile X syndrome.
We previously reported the isolation of a gene (FMR-1) expressed in brain at the fragile X locus. One exon of this gene lies… (More)
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