Results 181 to 190 of about 15,002 (209)
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Rapid Analysis of CGG Repeat Length in the FMR1 Gene
cclm, 2000Abstract The number of trinucleotide CGG repeats at the 5′ untranslated region of the FMR1 gene is associated with the fragile X syndrome of mental retardation. We screened for the CGG repeat length in the FMR1 gene of the X-chromosomes from unrelated normal Chinese subjects recruited in Hong Kong and Dalian, a southern and a northern ...
P M, Poon +4 more
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Transcription of the FMR1 gene in individuals with fragile X syndrome
American Journal of Medical Genetics, 2000Fragile X syndrome generally arises as a consequence of a large expansion of a CGG trinucleotide repeat element that is located in the GC-rich promoter region of the fragile X mental retardation gene (FMR1). In the conventional model for fragile X, clinical involvement arises as a consequence of silencing of the FMR1 gene, with the attendant loss of ...
F, Tassone +3 more
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The FMR1 Gene as Regulator of Ovarian Recruitment and Ovarian Reserve
Obstetrical & Gynecological Survey, 2010The fragile X mental retardation 1 (FMR1) gene is primarily associated with neuro/psychiatric risks. Recent evidence suggests that the gene also exerts controlling functions on follicle recruitment and ovarian reserve (OR). We performed unrestricted Medline and PubMed searches of the medical literature independently under search terms, FMR1 gene ...
Norbert, Gleicher, David H, Barad
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[Methylation and expression of the FMR1 gene].
Revista de neurologia, 2004In this paper we present a brief review on DNA methylation, the enzymes and proteins involved in the repression complex and the importance of methylation of FMR1 gene in fragile X syndrome.Methylation status of control region in the genome plays a critical role in the regulation of gene expression.
E, Pintado, F J, Morón
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Relevance of triple CGG repeats in the FMR1 gene to ovarian reserve
Reproductive BioMedicine Online, 2009Most individuals demonstrate 29-30 CGG triple repeats on the FMR1 gene. This may functionally represent a normal range in regard to ovarian reserve. Higher counts reflect risk towards premature ovarian senescence, but lower counts have not been investigated before and, therefore, were the principal subject of this investigation. Amongst 316 consecutive
Norbert, Gleicher +3 more
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Premature ovarian failure and FMR1 gene mutations: An update
Annales d'Endocrinologie, 2010Screening for fragile X premutations is recommended for the routine work-up for any woman presenting with premature ovarian failure (POF). The reason for this is that women with POF have an approximate 5% chance of conceiving and this possibility may be increased further in the FRAXA premutation subgroup.
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Length of uninterrupted CGG repeats determines instability in the FMR1 gene
Nature Genetics, 1994Analysis of 84 human X chromosomes for the presence of interrupting AGG trinucleotides within the CGG repeat tract of the FMR1 gene revealed that most alleles possess two interspersed AGGs and that the longest tract of uninterrupted CGG repeats is usually found at the 3' end. Variation in the length of the repeat appears polar.
E E, Eichler +8 more
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Severe mental retardation and macroorchidism without mutation in the FMR1 gene
American Journal of Medical Genetics, 1996Only one missense mutation, an Ile304Asn, has been reported in the fragile X gene (FMR1). This mutation is located in the second KH domain of FMR1, and has led to the discovery of the function of the FMR1 gene product as an RNA-binding protein. The patient carrying this mutation has profound mental retardation, macroorchidism, and an "acromegalic" face
Reyniers, E. +6 more
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Validation of a Screening Method for Dynamic Mutations in the FMR1 Gene.
Annals of clinical and laboratory science, 2018The objectives of this study were to validate the direct triplet-primed PCR method (dTP-PCR) for determination of dynamic mutations in the FMR1 gene, and to compare the results of the dTP-PCR method and Southern blot analysis. The number of CGG repeats in the FMR1 gene was determined by the direct triplet-primed PCR method and by melting curve analysis.
Škrlec, Ivana +2 more
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