Results 161 to 170 of about 5,127 (199)

The Fragile X Premutation: Into the Phenotypic Fold

Current Opinion in Genetics and Development, 2002
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1) are known to contribute to the fragile X phenotype through genetic instability and transmission of full mutation alleles (>200 repeats). There is now mounting evidence that the premutation alleles themselves contribute to clinical involvement, including premature
Randi J. Hagerman, Paul J Hagerman
exaly   +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

Metabolic Repair of Premutational Damage in Paramecium

International Journal of Radiation Biology and Related Studies in Physics, Chemistry and Medicine, 1961
SummaryThe problems of experimental analysis of the post-irradiation processes leading to mutation are considered in some detail. In particular, methods for separating the effects of various modifiers on the rate of these processes from the effects on the time available for them to occur are discussed.
R F, KIMBALL, N, GAITHER, S W, PERDUE
openaire   +2 more sources

Premutation in Achondroplasia

1988
The genetic characteristics of achondroplasia can be summarized as follows: 1. It is a common disorder ranging in prevalence from 2.5 to 5 per 100,000; in Italy, Camera and Mastroiacovo (7) documented a prevalence of 1/28,000 live- and stillborn children; the best estimate of prevalence after correcting for under-ascertainment was 1/22,500.
openaire   +2 more sources

Frequency and stability of the fragile X premutation

Human Molecular Genetics, 1994
Although considered the most common heritable cause of neurodevelopmental disability, precise prevalence figures for the FMR1 mutation in the general population are lacking. Since no fragile X premutation alleles have yet been observed to originate from FMR1 alleles within the normal size range, there is also little information available about the ...
A L, Reiss, H H, Kazazian, C M, Krebs, A, McAughan, C D, Boehm, M T, Abrams, D L, Nelson   +6 more
openaire   +2 more sources

Development of the child’s voice: premutation, mutation

International Journal of Pediatric Otorhinolaryngology, 1999
Voice range profile (VRP) measurement was used to evaluate the vocal capabilities of 180 children aged between 4 and 12 years without voice pathology. There were 10 boys and 10 girls in each age group. Using an automatic VRP measurement system, F0 and SPL dB (lin) were determined and displayed two-dimensionally in real time.
T, Hacki, S, Heitmüller
openaire   +2 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

Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother

American Journal of Medical Genetics Part A, 2010
AbstractWe report on the fortuitous finding of a paternal premutation of the FMR1 gene during prenatal diagnosis in a female fetus whose mother was known to be a premutation carrier. Analysis of the DNA, extracted from cultured cells obtained by chorionic villus sampling, demonstrated the presence in the fetus of two FMR1 alleles of 23 and 71 CGG ...
Pomponi, Maria Grazia, Pietrobono, Roberta, Neri, Caterina, Chiurazzi, Pietro, Neri, Giovanni   +4 more
openaire   +3 more sources

Assessing Fragile X Premutation Carriers' Knowledge of the Premutation Phenotype

2009
Fragile X syndrome (FXS) is the most common form of inherited cognitive impairment and a known genetic cause of autism. Initially, carriers of the FXS premutation were thought to only be at risk for having a child or grandchild with FXS. However, it has been found that premutation carriers are at risk for conditions not seen in carriers of the full ...
openaire   +1 more source

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