Results 11 to 20 of about 5,127 (199)
Sensory Difficulties in Children With an FMR1 Premutation
Frontiers in Genetics, 2018 Abnormal sensory processing is one of the core characteristics of the fragile X phenotype. Studies of young children with fragile X syndrome (FXS) and the FMR1 premutation have shown sensory challenges as early as infancy and into early childhood.
Melissa Raspa +7 more
doaj +4 more sources
Journal of Neurodevelopmental Disorders, 2014 Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, 'premutation' expansions (55 to 200 repeats) are now gaining increasing ...
Hagerman, Randi J +2 more
core +6 more sources
Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence [PDF]
Journal of Neurodevelopmental Disorders, 2017 Background The FMR1 premutation affects 1:291 women and is associated with a range of cognitive, affective, and physical health complications, including deficits in pragmatic language (i.e., social language). This study investigated attention to eye gaze
Jessica Klusek +4 more
doaj +2 more sources
Metabolic Alterations in FMR1 Premutation Carriers [PDF]
Frontiers in Molecular Biosciences, 2020 FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood.
Yiqu Cao +6 more
doaj +3 more sources
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
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
core +4 more sources
Genomic studies in fragile X premutation carriers [PDF]
Journal of Neurodevelopmental Disorders, 2014 BackgroundThe 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).
Lozano, Reymundo +11 more
core +6 more sources
Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China. [PDF]
Mol Genet Genomic MedThe third‐generation sequencing was used to detect the FMR1 gene, whose abnormalities are the primary causes of fragile X syndrome (FXS). Finally, a mutation database of the FMR1 gene in Shandong, China was established and provided prenatal diagnosis and genetic counseling for relevant individuals.
Li Y, Hou F, Shan S, Peng Y, Jin H.
europepmc +2 more sources
Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women. [PDF]
Am J Med Genet B Neuropsychiatr GenetABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Hong J +4 more
europepmc +2 more sources
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers. [PDF]
Ann Clin Transl NeurolABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Tassone F +8 more
europepmc +2 more sources