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FRAXA Syndrome

Known as: FRAXA, FRAXA Syndromes, Syndromes, FRAXA 
National Institutes of Health

Related topics

Related topics

3 relations
FMR1 wt AlleleFRAXE Syndrome

Broader (1)

Fragile X Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
The ARX mutations: A frequent cause of X‐linked mental retardation
The ARX gene mutations have been demonstrated to cause different forms of mental retardation (MR). Beside FMR1, in families with… 
Review
2004
Review
2004
Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.
1999
1999
Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction.
We studied five groups of women with ovarian dysfunction for the CGG expansion in FMR1 and a (TA)n polymorphism in the estrogen… 
Highly Cited
1999
Highly Cited
1999
Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.
This study presents the first large, population-based molecular investigation of the fragile X (FRAXA) and FRAXE mental… 
1997
1997
Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressing FRAXE.
Standardized cognitive, behavioral, and neuroanatomical data are presented on 2 unrelated boys with the FRAXE (FMR2) GCC… 
Highly Cited
1996
Highly Cited
1996
Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE.
Trinucleotide repeat expansions have been implicated in the causation of a number of neurodegenerative disorders. In the case of… 
Highly Cited
1991
Highly Cited
1991
Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).
We report the validation and use of a cell hybrid panel which allowed us a rapid physical localization of new DNA probes in the… 
Highly Cited
1989
Highly Cited
1989
A new DNA marker tightly linked to the fragile X locus (FRAXA).
The fragile X syndrome is the most common cause of familial mental retardation. Genetic counseling and gene isolation are… 
1989
1989
Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).
A new polymorphic DNA marker U6.2, defining the locus DXS304, was recently isolated and mapped to the Xq27 region of the X… 
Highly Cited
1988
Highly Cited
1988
Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.
We have characterized and genetically mapped new polymorphic DNA markers in the q27-q28 region of the X chromosome. New… 
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