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Neurological signs in the adult with fragile-X premutation
Neurología (English Edition), 2010 Introduction: Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats.
J. Cabanyes-Truffino
doaj +4 more sources
Genomic studies in fragile X premutation carriers. [PDF]
J Neurodev Disord, 2014 The FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). The clinical involvement has been well characterized for fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI).
Lozano R +5 more
europepmc +8 more sources
The Fragile-X Premutation: A Maturing Perspective [PDF]
The American Journal of Human Genetics, 2004 Carriers of premutation alleles (55-200 CGG repeats) of the fragile-X mental retardation 1 (FMR1) gene are often regarded as being clinically uninvolved. However, it is now apparent that such individuals can present with one (or more) of three distinct clinical disorders: mild cognitive and/or behavioral deficits on the fragile-X spectrum; premature ...
Hagerman, Paul J., Hagerman, Randi J.
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BC RNA Mislocalization in the Fragile X Premutation. [PDF]
eNeuro, 2018 AbstractFragile X premutation disorder is caused by CGG triplet repeat expansions in the 5′ untranslated region of FMR1 mRNA. The question of how expanded CGG repeats cause disease is a subject of continuing debate. Our work indicates that CGG-repeat structures compete with regulatory BC1 RNA for access to RNA transport factor hnRNP A2.
Muslimov IA +8 more
europepmc +4 more sources
A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa. [PDF]
Genes (Basel)Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene and known to be a leading cause of inherited intellectual disability globally. It results in a range of intellectual, developmental, and behavioral problems.
Mbachu CNP, Mbachu II, Hagerman R.
europepmc +3 more sources
Developmental aspects of FXAND in a man with the FMR1 premutation [PDF]
Molecular Genetics & Genomic Medicine, 2020 Background Fragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD). These problems fall under an umbrella
Ellery Santos +6 more
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Broad Clinical Involvement in a Family Affected by the Fragile X Premutation [PDF]
Journal of Developmental & Behavioral Pediatrics, 2009 The mutations in the FMR1 gene have been described as a family of disorders called fragile X-associated disorders including fragile X syndrome, fragile X-associated tremor/ataxia syndrome, primary ovarian insufficiency, and other problems associated with the premutation, such as hypothyroidism, hypertension, neuropathy, anxiety, depression, attention ...
Chonchaiya, W +5 more
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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 ...
Mei Qin, Ali Entezam, Karen Usdin
exaly +3 more sources
Dystonia in a Female Fragile X Premutation Carrier. [PDF]
Mov Disord Clin Pract, 2021 Ros-Castelló V +5 more
europepmc +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