Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation
about
Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activationFacile FMR1 mRNA structure regulation by interruptions in CGG repeatsSingle-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRPUnstable mutations in the FMR1 gene and the phenotypesRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersModeling Fragile X Syndrome Using Human Pluripotent Stem CellsFragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2PImproved methodology for assessment of mRNA levels in blood of patients with FMR1 related disordersMolecular and cellular genetics of fragile X syndrome.Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing.Biology of the fragile X mental retardation protein, an RNA-binding protein.Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism.Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells.An n-allele model for progressive amplification in the FMR1 locusFMRP detection assay for the diagnosis of the fragile X syndrome.FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencyIncrease of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?Quantitative comparison of FMR1 gene expression in normal and premutation allelesPrevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.Population dynamics of a meiotic/mitotic expansion model for the fragile X syndromeAn atypical case of fragile X syndrome caused by a deletion that includes the FMR1 geneThe fragile X premutation in carriers and its effect on mutation size in offspringIn vivo neuronal function of the fragile X mental retardation protein is regulated by phosphorylationFamilial transmission of the FMR1 CGG repeat.Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmissionA multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersLong noncoding RNA and its contribution to autism spectrum disorders.Effect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression.Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.Family Communication and Cascade Testing for Fragile X Syndrome.Transcription of the FMR1 gene in individuals with fragile X syndrome.Screening for fragile X syndrome: information needs for health planners.Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats.Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.
P2860
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P2860
Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation
description
1992 nî lūn-bûn
@nan
1992 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Inheritance of the fragile X s ...... he transition to full mutation
@ast
Inheritance of the fragile X s ...... he transition to full mutation
@en
type
label
Inheritance of the fragile X s ...... he transition to full mutation
@ast
Inheritance of the fragile X s ...... he transition to full mutation
@en
prefLabel
Inheritance of the fragile X s ...... he transition to full mutation
@ast
Inheritance of the fragile X s ...... he transition to full mutation
@en
P2093
P2860
P356
P1476
Inheritance of the fragile X s ...... he transition to full mutation
@en
P2093
P2860
P304
P356
10.1136/JMG.29.11.794
P407
P577
1992-11-01T00:00:00Z