Results 111 to 120 of about 15,002 (209)

Evaluation of FMR1 gene mutations in Turkish women newly diagnosed with primary ovarian failure

, 2019
Background: One of the known causes of ovarian dysfunction is fragile X mental retardation gene 1 (FMR1) premutation. The prevalence of FMR1 premutation in primary ovarian failure (POF) cases may differ between the studies due to some reasons including ...
Özakşit, Müzeyyen Gülnur, Sarıkaya, Esma, Tokmak, Aytekin, Düzkale, Neslihan, Çakar, Esra Şükran, Güney, Gürhan   +5 more
core   +1 more source

Modeling fragile X syndrome in the Fmr1 knockout mouse [PDF]

, 2014
Fragile X Syndrome (FXS) is a commonly inherited form of intellectual disability and one of the leading genetic causes for autism spectrum disorder.
Crawley, Jacqueline N, Silverman, Jill L, Kazdoba, Tatiana M, Leach, Prescott T   +3 more
core   +1 more source

Association of fragile X syndrome with delayed replication of the FMR1 gene

Cell, 1993
The fragile X syndrome is commonly associated with mutant alleles of the FMR1 gene that are hypermethylated and have large expansions of CGG repeats. We present data here on the replication timing of FMR1 that confirm predictions of delayed replication of alleles from affected males. The normal FMR1 allele replicates late in S phase, while alleles from
R S, Hansen, T K, Canfield, M M, Lamb, S M, Gartler, C D, Laird   +4 more
openaire   +2 more sources

Absence of BRCA/FMR1 correlations in women with ovarian cancers.

PLoS ONE, 2014
Previously reported findings in Austrian BRCA1/2 mutation carriers suggested a possible dependency of embryos with BRCA1/2 mutations on so-called low alleles of the fragile X mental retardation 1 (FMR1) gene, characterized by less than 26 CGG repeats ...
Norbert Gleicher, Jessica N McAlpine, C Blake Gilks, Vitaly A Kushnir, Ho-Joon Lee, Yan-Guang Wu, Emanuela Lazzaroni-Tealdi, David H Barad   +7 more
doaj   +1 more source

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

BMC Medical Genetics, 2007
Background The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the offspring of women with pre ...
D'Urso Michele, Chiurazzi Pietro, Laperuta Carmela, Miano Maria, Ursini Matilde   +4 more
doaj   +1 more source

Association between mutations in the FMR1 gene and ovarian dysfunction in Brazilian patients. [PDF]

JBRA Assist Reprod, 2022
Ramos C, Ocampos M, Barbato IT, Niehues VMS, Bicalho MDG, Nisihara R.   +5 more
europepmc   +1 more source

Rare variants in the promoter of the fragile X syndrome gene (FMR1)

Molecular and Cellular Probes, 2000
Fragile X syndrome, the most common form of familial mental retardation, is mainly caused by the expansion of an unstable region of CGG repeats in the 5' untranslated region of the FMR1 (Fragile X Mental Retardation-1) gene. Molecular tools to detect an abnormal CGG expansion in FMR1 include Southern blot hybridization and PCR amplification.
M, Milà, S, Castellví-Bel, A, Sánchez, A, Barceló, C, Badenas, J, Mallolas, X, Estivill   +6 more
openaire   +2 more sources

PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene. [PDF]

Genes (Basel), 2023
Persico T, Tranquillo ML, Seracchioli R, Zuccarello D, Sorrentino U.   +4 more
europepmc   +1 more source

Molecular mechanism of FMR1 gene silencing in fragile X syndrome

, 2007
TypescriptThesis (PhD) -- University of Melbourne, Faculty of Medicine, Dentistry and Health Sciences 2007Includes bibliographical references (pages 260-288)Fragile X syndrome is an X-linked dominant disorder and is the most common cause of inherited ...
Chow, Maggie Zi-Ying.
core  

Deletion of All CGG Repeats Plus Flanking Sequences in FMR1 Does Not Abolish Gene Expression

, 1997
SummaryThe fragile X syndrome is due to the new class of dynamic mutations. It is associated with an expansion of a trinucleotide repeat (CGG) in exon 1 of the fragile X mental retardation gene 1 gene (FMR1).
Brøndum-Nielsen, Karen, Grønskov, Karen, Hjalgrim, Helle, Bjerager, Mia O.   +3 more
core   +1 more source