A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.
about
Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum DisorderMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersThe fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiologyEvidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.Broad clinical involvement in a family affected by the fragile X premutation.Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy.Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells.Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.Fragile X syndrome. Molecular and clinical insights and treatment issuesClinical and molecular implications of mosaicism in FMR1 full mutations.FMR1 and the fragile X syndrome: human genome epidemiology reviewPrevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubertCurrent research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Effects of chronic immobilization stress on anxiety-like behavior and basolateral amygdala morphology in Fmr1 knockout mice.Increase 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.Resolution of spatial and temporal visual attention in infants with fragile X syndrome.Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.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.Population dynamics of a meiotic/mitotic expansion model for the fragile X syndromeThe 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 phosphorylationMental status of females with an FMR1 gene full mutationEMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersDetection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.Unaltered hormonal response to stress in a mouse model of fragile X syndromeArousal modulation in females with fragile X or Turner syndrome.Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.Methyl-CpG-binding PCR of bloodspots for confirmation of fragile X syndrome in males.A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells.The cognitive developmental profile associated with fragile X syndrome: A longitudinal investigation of cognitive strengths and weaknesses through childhood and adolescence.
P2860
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P2860
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.
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
A multicenter study on genotyp ...... tB12.3: the first 2,253 cases.
@ast
A multicenter study on genotyp ...... tB12.3: the first 2,253 cases.
@en
type
label
A multicenter study on genotyp ...... tB12.3: the first 2,253 cases.
@ast
A multicenter study on genotyp ...... tB12.3: the first 2,253 cases.
@en
prefLabel
A multicenter study on genotyp ...... tB12.3: the first 2,253 cases.
@ast
A multicenter study on genotyp ...... tB12.3: the first 2,253 cases.
@en
P2093
P2860
P1476
A multicenter study on genotyp ...... tB12.3: the first 2,253 cases.
@en
P2093
Barnicoat A
MacPherson J
Malmgren H
Rousseau F
Tarleton J
P2860
P304
P407
P577
1994-08-01T00:00:00Z