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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… 
National Institutes of Health

Related topics

Related topics

35 relations
Abnormal head movementsAutism Spectrum DisordersChromosome Fragile SitesChromosome Fragility

Broader (5)

Chromosome AberrationsCongenital chromosomal diseaseMental RetardationSex Chromosome Aberrations

Narrower (4)

FRAGILE X TREMOR/ATAXIA SYNDROMEFRAXA SyndromeFRAXE SyndromeSaul Wilkes Stevenson syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2008
Highly Cited
2008
Executive functions in young males with fragile X syndrome in comparison to mental age-matched controls: baseline findings from a longitudinal study.
The performance of 54 boys with fragile X syndrome (FXS), ages 7 to 13 years, was compared to that of a group of typically… 
Review
2005
Review
2005
Fathoming fragile X in fruit flies.
Review
1999
Review
1999
Molecular and cellular genetics of fragile X syndrome.
Fragile X syndrome (FraX) is one of the most prevalent genetic causes of developmental disability, representing the most frequent… 
1994
1994
Reverse mutations in the fragile X syndrome.
Three females were identified who have apparent reversal of fragile X premutations. Based on haplotype analysis of nearby markers… 
Highly Cited
1992
Highly Cited
1992
Detection of full fragile X mutation
Highly Cited
1991
Highly Cited
1991
Molecular heterogeneity of the fragile X syndrome.
The fragile X syndrome is an X-linked disorder which has been shown to be associated with the length variation of a DNA fragment… 
Highly Cited
1988
Highly Cited
1988
Deficiency of protein 4.2 in erythrocytes from a patient with a Coombs negative hemolytic anemia. Evidence for a role of protein 4.2 in stabilizing ankyrin on the membrane.
A patient with a mild hemolytic anemia and osmotically fragile, spherocytic erythrocytes was studied. Analysis of the erythrocyte… 
Highly Cited
1986
Highly Cited
1986
Aortic root dilatation and mitral valve prolapse in the fragile X syndrome.
Forty patients with fragile X [fra(X)] or Martin-Bell syndrome, confirmed by chromosome analysis, underwent full cardiac… 
Highly Cited
1983
Highly Cited
1983
Autism and the Fragile X Syndrome
Ten patients with the fragile X syndrome were diagnosed at the Child Development Unit in 1982. Six of these patients are autistic… 
Highly Cited
1980
Highly Cited
1980
Branhamella (Neisseria) catarrhalis: criteria for laboratory identification
Eleven clinically significant isolates of Branhamella catarrhalis grew well on modified Thayer-Martin medium and produced beta… 
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