High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.
about
Unstable mutations in the FMR1 gene and the phenotypesRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersDevelopment of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion MutationsMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersAdvanced technologies for the molecular diagnosis of fragile X syndromeThe fragile X gene and its functionMethylation-dependent gene silencing induced by interleukin 1beta via nitric oxide productionMolecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targetsMethylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.Molecular and cellular genetics of fragile X syndrome.FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.Biology of the fragile X mental retardation protein, an RNA-binding protein.iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowthFMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.Advances in research on the fragile X syndrome.FMR1 gene and fragile X syndrome.Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.Fragile X syndrome. Molecular and clinical insights and treatment issuesClinical and molecular implications of mosaicism in FMR1 full mutations.Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome.Trinucleotide expansion in disease: why is there a length threshold?Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.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?A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells.An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) geneReading and phonological skills in boys with fragile X syndromeInstability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.FMR1 premutation and full mutation molecular mechanisms related to autism.Treatment effects of stimulant medication in young boys with fragile X syndromePsychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatmentCascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.A dual-mode single-molecule fluorescence assay for the detection of expanded CGG repeats in Fragile X syndrome.High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters.
P2860
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P2860
High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
High functioning fragile X mal ...... iated with protein expression.
@en
High functioning fragile X mal ...... iated with protein expression.
@nl
type
label
High functioning fragile X mal ...... iated with protein expression.
@en
High functioning fragile X mal ...... iated with protein expression.
@nl
prefLabel
High functioning fragile X mal ...... iated with protein expression.
@en
High functioning fragile X mal ...... iated with protein expression.
@nl
P2093
P2860
P356
P1476
High functioning fragile X mal ...... iated with protein expression.
@en
P2093
Carpenter I
Hagerman RJ
Mazzocco MM
O'Connor RA
Safanda JF
Thibodeau SN
P2860
P304
P356
10.1002/AJMG.1320510404
P577
1994-07-01T00:00:00Z