Cardiovascular Problems in the Fragile X Premutation [PDF]
Frontiers in Genetics, 2020 There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55–200 CGG repeats in fragile X mental retardation 1 (FMR1) gene.
Randi J. Hagerman +1 more
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Fragile X Premutation Associated Conditions (FXPAC) [PDF]
Frontiers in Pediatrics, 2020 The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation.
Jonathan Herring, Kirsten Johnson
exaly +7 more sources
Fragile X Premutation: Medications, Therapy and Lifestyle Advice [PDF]
Pharmacogenomics and Personalized Medicine, 2021 Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj +9 more sources
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation [PDF]
Cells, 2023 The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to
Flora Tassone +45 more
doaj +6 more sources
Executive Function and Working Memory Deficits in Females with Fragile X Premutation [PDF]
Life, 2023 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.
Osnat Segal +3 more
doaj +3 more sources
Prevalence and implications of fragile X premutation screening in Thailand [PDF]
Scientific ReportsThe fragile X premutation is a public health concern worldwide. Implementing a comprehensive screening program for FMR1 premutation alleles could empower individuals and families with information, supporting informed health decisions and potentially ...
Areerat Hnoonual +3 more
doaj +4 more sources
Clinical and molecular correlates in fragile X premutation females [PDF]
eNeurologicalSci, 2017 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.
Poonnada Jiraanont +13 more
doaj +6 more sources
Neurobiology of Disease, 2011 Carriers of FMR1 premutation alleles have 55–200 CGG repeats in the 5′ untranslated region of the gene. These individuals are at risk for fragile X associated primary ovarian insufficiency (females) and, in late life, fragile X associated tremor and ...
Carolyn Beebe Smith +2 more
exaly +3 more sources
Automated screening for Fragile X premutation carriers based on linguistic and cognitive computational phenotypes [PDF]
Scientific Reports, 2017 Millions of people globally are at high risk for neurodegenerative disorders, infertility or having children with a disability as a result of the Fragile X (FX) premutation, a genetic abnormality in FMR1 that is underdiagnosed.
Arezoo Movaghar +4 more
doaj +2 more sources
Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review
Frontiers in Psychiatry, 2021 FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X ...
Andrea Elias-Mas +9 more
doaj +1 more source