Quantitative comparison of FMR1 gene expression in normal and premutation alleles
about
Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targetsThe fragile X mental retardation protein inhibits translation via interacting with mRNAFragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary dataMolecular and cellular genetics of fragile X syndrome.Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.Advances in research on the fragile X syndrome.Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutationsElevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.FMRP detection assay for the diagnosis of the fragile X syndrome.Premature ovarian failure in the fragile X syndrome.Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome.Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.Fragile X premutations are not a major cause of early menopause.Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency.Reproductive and menstrual history of females with fragile X expansionsA quantitative ELISA assay for the fragile x mental retardation 1 protein.Transcription of the FMR1 gene in individuals with fragile X syndrome.A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.Tissue-specific methylation differences and cognitive function in fragile X premutation females.Screening for fragile X syndrome: information needs for health planners.The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome.Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood.Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin.Arithmetic difficulties in females with the fragile X premutation.Annexin-1 is abnormally expressed in fragile X syndrome: two-dimensional electrophoresis study in lymphocytes.Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.Clinical involvement and protein expression in individuals with the FMR1 premutation.A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.
P2860
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P2860
Quantitative comparison of FMR1 gene expression in normal and premutation alleles
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Quantitative comparison of FMR1 gene expression in normal and premutation alleles
@ast
Quantitative comparison of FMR1 gene expression in normal and premutation alleles
@en
type
label
Quantitative comparison of FMR1 gene expression in normal and premutation alleles
@ast
Quantitative comparison of FMR1 gene expression in normal and premutation alleles
@en
prefLabel
Quantitative comparison of FMR1 gene expression in normal and premutation alleles
@ast
Quantitative comparison of FMR1 gene expression in normal and premutation alleles
@en
P2093
P2860
P356
P1476
Quantitative comparison of FMR1 gene expression in normal and premutation alleles
@en
P2093
P2860
P304
P356
10.1002/AJMG.1320560124
P407
P577
1995-01-01T00:00:00Z