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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Cells, 2023
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to
Flora Tassone, Dragana Protic, Alison D Archibald   +2 more
exaly   +3 more sources

Association between idiopathic premature ovarian failure and fragile X premutation

Human Reproduction, 2000
A total of 106 women affected by premature ovarian failure (POF) were evaluated for fragile X (FRAXA) premutation. The POF patients were classified as having a familial condition (33 women), at least one relative with early menopause (12 women), or a ...
Anna Marozzi, Walter Vegetti, Giovanna Testa   +2 more
exaly   +2 more sources

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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

Phenobarbital use and neurological problems in FMR1 premutation carriers [PDF]

NeuroToxicology, 2016
Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by a CGG expansion in the FMR1 gene located at Xq27.3. Patients with the premutation in FMR1 present specific clinical problems associated with the number of CGG repeats (55-200 CGG repeats)
Wilmar Saldarriaga, Pamela J Lein, Andrew Polyak   +2 more
exaly   +2 more sources

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

Identification of small FRAXA premutations

Molecular Diagnosis, 2000
Diagnosis of fragile X syndrome in mentally retarded individuals is satisfactorily achieved using a Southern blot test that detects the typical triplet repeat expansion (>200 repeats) within the FMR1 gene. All such individuals inherit the mutation from a carrier, who usually shows a lower triplet repeat number and may be asymptomatic. Having identified
Francis, D., Burgess, T., Mitchell, Robert John., Slater, H.   +3 more
openaire   +2 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
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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.
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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