Results 51 to 60 of about 6,083,486 (156)
Early Diagnosis of Fragile X Syndrome
Pediatric Neurology Briefs, 2003 Surveys from 274 families with at least one child with fragile X syndrome (FXS) were used to determine factors associated with the discovery of the diagnosis in a study at the University of North Carolina, Chapel Hill, NC.
J Gordon Millichap
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Auditory Processing in Fragile X Syndrome
Frontiers in Cellular Neuroscience, 2014 Fragile X syndrome (FXS) is an inherited form of intellectual disability and autism. Among other symptoms, FXS patients demonstrate abnormalities in sensory processing and communication.
Sarah E Rotschafer, Khaleel A Razak
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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 +6 more
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Cognitive, Behavioral, and Adaptive Functioning in Fragile X and Non-Fragile X Retarded Men [PDF]
, 1988 The cognitive, behavioral, and adaptive functioning of 12 men with fragile X syndrome (aged 23 to 62 years) was systematically assessed and compared to two matched groups of retarded men without fragile X syndrome residing at the same institution.
Leckman, J. +3 more
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Genetics and Molecular Biology, 2002 Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain.
Yolanda de Diego +5 more
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Pathological Plasticity in Fragile X Syndrome
Neural Plasticity, 2012 Deficits in neuronal plasticity are common hallmarks of many neurodevelopmental disorders. In the case of fragile-X syndrome (FXS), disruption in the function of a single gene, FMR1, results in a variety of neurological consequences directly related to ...
Brandon S. Martin, Molly M. Huntsman
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F1000Research, 2013 It has become increasingly important that the field of behavioral genetics identifies not only the gross behavioral phenotypes associated with a given mutation, but also the behavioral endophenotypes that scale with the dosage of the particular mutation ...
Michael R. Hunsaker
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Facial features of unrelated Fragile X patients.
, 2015 Facial features of unrelated Fragile X patients.
Muhammad Afzal (83943) +7 more
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Clinical and molecular implications of mosaicism in FMR1 full mutations
Frontiers in Genetics, 2014 Expansions of more than 200 CGG repeats (full mutation) in the FMR1 gene give rise to fragile X syndrome (FXS) through a process that generally involves hypermethylation of the FMR1 promoter region and gene silencing, resulting in absence of expression ...
Flora eTassone +9 more
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