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

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Topic mentions per year

1981-2017
010020019812017

Papers overview

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Review
2016
Review
2016
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
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
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
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
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
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
The much-quoted prevalence figure of 1:1,000 males for fragile X syndrome is an overestimate in a mixed ethnic population. A… (More)
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Highly Cited
1991
Highly Cited
1991
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
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
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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