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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

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Highly Cited
2010
Highly Cited
2010
# 2008 The Authors Journal compilation # 2008 Blackwell Publishing Ltd/International Behavioural and Neural Genetics Society
  • 2010
    • Corpus ID: 189798703
 
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Review
2008
Review
2008
Human chromosome fragility.
Fragile sites are heritable specific chromosome loci that exhibit an increased frequency of gaps, poor staining, constrictions or… Expand
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Review
2007
Review
2007
Chromosome fragile sites.
Chromosomal fragile sites are specific loci that preferentially exhibit gaps and breaks on metaphase chromosomes following… Expand
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Highly Cited
2007
Highly Cited
2007
High-throughput mapping of origins of replication in human cells.
Mapping origins of replication has been challenging in higher eukaryotes. We have developed a rapid, genome-wide method to map… Expand
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Review
2005
Review
2005
Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles
The list of developmental and degenerative diseases that are caused by expansion of unstable repeats continues to grow, and is… Expand
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Review
2000
Review
2000
Dendritic spine structural anomalies in fragile-X mental retardation syndrome.
Fragile-X syndrome is the most common single-gene inherited form of mental retardation. Morphological studies suggest a possible… Expand
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Highly Cited
1998
Highly Cited
1998
Studies of FRAXA and FRAXE in women with premature ovarian failure.
Recent reports suggest that women with FRAXA premutations have an increased likelihood of having premature ovarian failure (POF… Expand
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Highly Cited
1998
Highly Cited
1998
Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation.
Models for the disease-associated expansion of trinucleotide repeats involve the participation of alternative DNA structures… Expand
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Highly Cited
1994
Highly Cited
1994
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
Three folate-sensitive fragile sites, termed FRAXA, FRAXE and FRAXF, have been identified on the distal end of chromosome Xq. The… Expand
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Highly Cited
1993
Highly Cited
1993
A point mutation in the FMR-1 gene associated with fragile X mental retardation
The vast majority of patients with fragile X syndrome show a folate–sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic… Expand
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