Results 171 to 180 of about 19,643 (207)

The FMR1 premutation and reproduction

Fertility and Sterility, 2007
To update clinicians on the reproductive implications of premutations in FMR1 (fragile X mental retardation 1). Fragile X syndrome, a cause of mental retardation and autism, is due to a full mutation (>200 CGG repeats). Initially, individuals who carried the premutation (defined as more than 55 but less than 200 CGG repeats) were not considered at risk
Michael D, Wittenberger, Randi J, Hagerman, Stephanie L, Sherman, Allyn, McConkie-Rosell, Corrine K, Welt, Robert W, Rebar, Emily C, Corrigan, Joe Leigh, Simpson, Lawrence M, Nelson   +8 more
openaire   +2 more sources

Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene.

Behavioral Neuroscience, 2008
Fragile X syndrome (FXS) results from the loss of expression of the fragile X mental retardation (FMR1) gene. Individuals affected by FXS experience many behavioral problems, including cognitive impairment, hyperactivity, social anxiety, and autistic-like behaviors.
Corinne M, Spencer, Deanna F, Graham, Lisa A, Yuva-Paylor, David L, Nelson, Richard, Paylor   +4 more
openaire   +2 more sources

Perinatal supplementation with omega-3 fatty acids corrects the aberrant social and cognitive traits observed in a genetic model of autism based on FMR1 deletion in rats

Nutritional neuroscience, 2020
Background and objective: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder for which no treatments exist. Fragile X syndrome (FXS) is the most common form of inherited mental retardation and the most frequent monogenic cause of ASD.
S. Schiavi, E. Carbone, F. Melancia, V. Buzzelli, A. Manduca, P. Campolongo, V. Pallottini, V. Trezza   +7 more
semanticscholar   +1 more source

FMR1 gene and fragile X syndrome

American Journal of Medical Genetics, 2000
Taxonomic features of fragile X syndrome (FXS) associated with the fragile X mutation have evolved over several decades. Males are more severely impacted cognitively than females, but both show declines in IQ scores as they age. Although many males with FXS exhibit autistic-like features, autism does not occur more frequently in males with FXS than ...
Bardoni, Barbara, Mandel, Jean-Louis, Fisch, Gene S.   +2 more
openaire   +3 more sources

Parkinsonism, FXTAS, and FMR1 premutations

Movement Disorders, 2004
AbstractThe presence of late‐onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X–associated tremor/ataxia syndrome (FXTAS) is parkinsonism.
Mathias, Toft, Jan, Aasly, Gina, Bisceglio, Charles H, Adler, Ryan J, Uitti, Anna, Krygowska-Wajs, Timothy, Lynch, Zbigniew K, Wszolek, Matthew J, Farrer   +8 more
openaire   +2 more sources

Epigenetic Modifications of the FMR1 Gene

2013
The fragile X syndrome (FXS), the most common cause of heritable intellectual disability, is caused by expansion of a CGG repeat located at the 5' UTR of the FMR1 gene and subsequent epigenetic modifications of its promoter. Epigenetic modifications include both methylation of the cytosines of the CpG island in the promoter region and of the expanded ...
Tabolacci, Elisabetta, Neri, Giovanni
openaire   +2 more sources

Evolutionary dynamics of the FMR1 locus

Annals of Human Genetics, 1995
SUMMARYRare haplotypes for close flanking markers are associated with increased allele size and frequency of the fragile X mutation. Exceptional founder haplotypes can be identified, but many haplotypes with rare alleles contribute to full mutations.A transition matrix constructed from the data predicts that a population with reduced variability will ...
Morris, A., MORTON, N. E., Collins, A., Lawrence, S., Macpherson, J. N.   +4 more
openaire   +3 more sources

Genetics and mathematics: FMR1 premutation female carriers

Neuropsychologia, 2012
Neuropsychological investigations of FMR1 premutation carriers without FXTAS present one domain resulting in contradictory findings, namely that of mathematical skills. One reason for this might be that standard clinical batteries used so far may be inadequate to uncover precise deficits within specific mathematical skills.
SEMENZA, CARLO, S. Bonollo, R. Polli, C. Busana, R. Pignatti, T. Iuculano, A. M. Laverda, PRIFTIS, KONSTANTINOS, MURGIA, ALESSANDRA   +8 more
openaire   +3 more sources

Compound Heterozygosity at the FMR1 Gene

Genetic Testing, 2001
Individuals affected with Fragile X syndrome are usually characterized at the DNA level by the presence of at least 200 CGG repeats in the 5' untranslated region of the FMR1 gene; this number of repeats is defined as a full mutation. Repeats that number 50-200 usually define those with premutations and are termed unaffected carriers.
Hegde, MR, Fawkner, M, Chong, B, McGaughran, J, Gilbert, D, Love, DR   +5 more
openaire   +3 more sources

Executive Dysfunction in Female FMR1 Premutation Carriers

The Cerebellum, 2016
There is now growing evidence of cognitive weakness in female premutation carriers (between 55 and 199 CGG repeats) of the fragile X mental retardation gene, including impairments associated with executive function. While an age-related decline in assessments of executive function has been found for male premutation carriers, few studies have explored ...
Annie L, Shelton, Kim M, Cornish, Claudine M, Kraan, Reymundo, Lozano, Minh, Bui, Joanne, Fielding   +5 more
openaire   +2 more sources