All Fields
Computer Science
Medicine
FAQ
Contact
Sign in
FRAXA Syndrome
Known as:
FRAXA
, FRAXA Syndromes
, Syndromes, FRAXA
Â
(More)
Â
National Institutes of Health
Topic mentions per year
Topic mentions per year
1987-2013
0
5
10
1987
2013
Related topics
Related topics
4 relations
FMR1 wt Allele
FRAXA gene
FRAXE Syndrome
Broader (1)
Fragile X Syndrome
Related mentions per year
Related mentions per year
1981-2018
1980
1990
2000
2010
2020
FRAXA Syndrome
Fragile X Syndrome
FMR1 wt Allele
FRAXA gene
FRAXE Syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2004
2004
Premature ovarian failure and fragile X premutation: a study on 45 women.
Cecilia Bussani
,
Laura Papi
,
+4 authors
Gianfranco Scarselli
European journal of obstetrics, gynecology, and…
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…Â
(More)
Is this relevant?
2002
2002
Longitudinal changes in cognitive and adaptive behavior scores in children and adolescents with the fragile X mutation or autism.
Gene S Fisch
,
Richard J. Simensen
,
Richard J Schroer
Journal of autism and developmental disorders
2002
Studies of the relationship between the fragile X (FRAXA) mutation and autism have been controversial. Although there are…Â
(More)
Is this relevant?
1999
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.
Philippos C. Patsalis
,
Carolina Sismani
,
+7 authors
Maria Syrrou
American journal of medical genetics
1999
This study presents the first large, population-based molecular investigation of the fragile X (FRAXA) and FRAXE mental…Â
(More)
Is this relevant?
1999
1999
Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction.
Maria Syrrou
,
I. Georgiou
,
Philippos C. Patsalis
,
Ioanna Bouba
,
Georgios G Adonakis
,
Gerassimos N. Pagoulatos
American journal of medical genetics
1999
We studied five groups of women with ovarian dysfunction for the CGG expansion in FMR1 and a (TA)n polymorphism in the estrogen…Â
(More)
Is this relevant?
1998
1998
Studies of FRAXA and FRAXE in women with premature ovarian failure.
A. Murray
,
J. Webb
,
Sara R Grimley
,
Gerard S. Conway
,
P. Jacobs
Journal of medical genetics
1998
Recent reports suggest that women with FRAXA premutations have an increased likelihood of having premature ovarian failure (POF…Â
(More)
Is this relevant?
1998
1998
DNA diagnosis of FRAXA and FRAXE in Chinese children with neurodevelopmental disorders and fragile X syndrome.
S. Y. Chan
,
V. Wong
Clinical genetics
1998
Fragile X (FraX) syndrome is the most common cause of inherited mental retardation. To see whether FRAXA or FRAXE can account for…Â
(More)
Is this relevant?
1997
1997
Do mothers of dizygotic twins have earlier menopause? A role for fragile X?
N. G. Martin
,
Sean Healey
,
Theresa Pangan
,
A. C. Heath
,
G. Turner
American journal of medical genetics
1997
Dizygotic (DZ) twinning appears to run in families and the underlying trait, multiple ovulation, appears to be genetically…Â
(More)
Is this relevant?
1997
1997
The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission.
A. Murray
,
J. N. Macpherson
,
+7 authors
Phillip Jacobs
Human molecular genetics
1997
Factors involved in the stability of trinucleotide repeats during transmission were studied in 139 families in which a full…Â
(More)
Is this relevant?
1995
1995
FRAXE and mental retardation.
John C. Mulley
,
S. Yu
,
+7 authors
I Gabarrón
Journal of medical genetics
1995
Mental impairment and instability of the CCG repeat at FRAXE is described in six kindreds. Cosegregation of FRAXA and FRAXE was…Â
(More)
Is this relevant?
Highly Cited
1993
Highly Cited
1993
A point mutation in the FMR-1 gene associated with fragile X mental retardation
Kristel De Boulle
,
Annemieke J M H Verkerk
,
+7 authors
Patrick J. Willems
Nature Genetics
1993
The vast majority of patients with fragile X syndrome show a folate–sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic…Â
(More)
Is this relevant?