FRAXA Syndrome

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

Topic mentions per year

Topic mentions per year

1987-2013
051019872013

Papers overview

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2004
2004
OBJECTIVE The aim of this study was to test for the presence of the fragile X (FRAXA) premutation a group of women with early… (More)
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2002
2002
Studies of the relationship between the fragile X (FRAXA) mutation and autism have been controversial. Although there are… (More)
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1999
1999
This study presents the first large, population-based molecular investigation of the fragile X (FRAXA) and FRAXE mental… (More)
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1999
1999
We studied five groups of women with ovarian dysfunction for the CGG expansion in FMR1 and a (TA)n polymorphism in the estrogen… (More)
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1998
1998
Recent reports suggest that women with FRAXA premutations have an increased likelihood of having premature ovarian failure (POF… (More)
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1998
1998
Fragile X (FraX) syndrome is the most common cause of inherited mental retardation. To see whether FRAXA or FRAXE can account for… (More)
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1997
1997
Dizygotic (DZ) twinning appears to run in families and the underlying trait, multiple ovulation, appears to be genetically… (More)
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1997
1997
Factors involved in the stability of trinucleotide repeats during transmission were studied in 139 families in which a full… (More)
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1995
1995
Mental impairment and instability of the CCG repeat at FRAXE is described in six kindreds. Cosegregation of FRAXA and FRAXE was… (More)
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Highly Cited
1993
Highly Cited
1993
The vast majority of patients with fragile X syndrome show a folate–sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic… (More)
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