Results 61 to 70 of about 748 (132)
Data_Sheet_1_Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation.docx
, 2021 Purpose: Women who carry an FMR1 premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20–30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS ...
Stephanie L. Sherman (8120555) +8 more
core +1 more source
From dynamic FMR1 mutation to variable phenotypes: A case series from a large Tunisian family
Neurology and Clinical Neuroscience, Volume 13, Issue 2, Page 107-114, March 2025.Abstract Background Fragile X messenger ribonucleoprotein 1 gene (FMR1) disorders result from a mutation in the FMR1 gene, leading to a deficiency or absence of the FMRP. Full mutations and premutations of the FMR1 gene are known to cause completely different symptoms.
Imen Ketata, Emna Ellouz
wiley +1 more source
, 2018 Objective: To determine frequency of fragile X associated premature ovarian insufficiency (FXPOI) among Turkish premutation ...
Simsek-Kiper, Pelin Ozlem +8 more
core +1 more source
FMRP Associates with Cytoplasmic Granules at the Onset of Meiosis in the Human Oocyte.
PLoS ONE, 2016 Germ cell development and primordial follicle formation during fetal life is critical in establishing the pool of oocytes that subsequently determines the reproductive lifespan of women.
Roseanne Rosario +6 more
doaj +1 more source
Case Reports in Genetics, Volume 2025, Issue 1, 2025.Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5′UTR (untranslated region ...
Hasan Hasan +7 more
wiley +1 more source
WIREs RNA, Volume 15, Issue 6, November/December 2024.CGG repeat expansion may occur in the 5′ untranslated region of the FMR1 gene. The resulting mutant DNA and RNA with expanded CGG repeats form stable secondary structures that can interfere with numerous cellular processes. Depending on the length of the CGG repeats, different molecular phenotypes may occur, which in turn determine different clinical ...
Izabela Broniarek +2 more
wiley +1 more source
, 2018 Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in about 20% of women who carry a premutation allele (55–200 CGG repeats). These women develop hypergonadotropic hypogonadism and have secondary amenorrhea before age 40.
Nicole Tortora (5593067) +9 more
core +1 more source
Frontiers in Genetics, 2018 Fragile X syndrome (FXS) is caused by the maternal expansion of an unstable CGG-repeat tract located in the first exon of the FMR1 gene. Further changes in repeat number occur during embryogenesis resulting in individuals sometimes being highly mosaic ...
Xiao-Nan Zhao, Karen Usdin
doaj +1 more source
A holistic approach to fragile X syndrome integrated guidance for person‐centred care
Journal of Applied Research in Intellectual Disabilities, Volume 37, Issue 3, May 2024.Abstract Background The Fragile X community has expressed a desire for centralised, national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS). Methods This article draws on existing literature reviews, primary research and clinical trials on FXS, a Fragile X Society conference workshop and first‐hand experience of clinicians ...
Kirsten Johnson +7 more
wiley +1 more source
Medicare‐funded reproductive genetic carrier screening in Australia has arrived: are we ready?
Medical Journal of Australia, Volume 220, Issue 8, Page 394-397, May 2024.
Alice P Rogers +3 more
wiley +1 more source