Results 61 to 70 of about 815 (125)
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
Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders.
, 2014 Carriers of fragile X syndrome can present with a broad spectrum of clinical disordersFragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are three clinically distinct ...
Nielsen, Jørgen E +4 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
, 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
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
CGG Repeat RNAs Regulate Granule Translation
, 2017 Fragile X tremor ataxia syndrome (FXTAS) and fragile X primary ovarian insufficiency (FXPOI) are associated with CGG repeat expansions in the 5’UTR of the FMR1 gene.
Rovozzo, Rene
core +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
Premature ovarian insufficiency caused by FMR1 premutations may be underdiagnosed [PDF]
, 2011 2nd advanced courseThe FMR1 gene [Xq27.3; MIM*309550] has an unstable region comprised of CGG triplets located the 5´untranslated region. Based on the number of those repeats alleles are classified as normal, intermediate, premutation or full mutation ...
Marques, Isabel +2 more
core
, 2016 The article summarizes over 20 years of experience of a reference lab in fragile X mental retardation 1 gene (FMR1) molecular analysis in the molecular diagnosis of fragile X spectrum disorders.
Jolanta Czekajska +12 more
core +1 more source