Study of telomere length in men who carry a fragile X premutation or full mutation allele
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DOI: 10.1007/s00439-020-02194-8
Abstract: The fragile X premutation is defined by the expansion of the CGG trinucleotide repeat at the 5′ UTR of the FMR1 gene to between 55 and 200 repeats, while repeat tracks longer than 200 are… read more here.
Keywords: premutation; premutation full; fragile premutation; telomere length ... See more keywords
Clinical and molecular correlates in fragile X premutation females
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DOI: 10.1016/j.ensci.2017.04.003
Abstract: The prevalence of the fragile X premutation (55–200 CGG repeats) among the general population is relatively high, but there remains a lack of clear understanding of the links between molecular biomarkers and clinical outcomes. In… read more here.
Keywords: clinical molecular; premutation; molecular correlates; clinical phenotypes ... See more keywords
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2022-108568
Abstract: FMR1 premutation cytosine-guanine-guanine repeat expansion alleles are relatively common mutations in the general population that are associated with a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome), reproductive health problems and potentially a wide range of additional… read more here.
Keywords: trial readiness; premutation; international fragile; fragile premutation ... See more keywords
Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation
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DOI: 10.1186/s12905-022-01632-1
Abstract: Purpose Women of reproductive age who carry fragile X premutation (PM) alleles have 56 to 200 CGG repeats in the 5′-untranslated region of FMR1 gene are at increased risk for producing children with intellectual disabilities… read more here.
Keywords: carrier screening; carrier; preconception women; care ... See more keywords
Executive Function and Working Memory Deficits in Females with Fragile X Premutation
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DOI: 10.3390/life13030813
Abstract: The Fragile X premutation is a genetic instability of the FMR1 gene caused by 55–199 recurrences of the CGG sequence, whereas there are only 7–54 repeats of the CGG sequence in the normal condition. While… read more here.
Keywords: working memory; premutation; executive functions; fragile premutation ... See more keywords