Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation
about
Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case reportInheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutationDirect analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family.Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study.X inactivation of the FMR1 fragile X mental retardation geneHigh-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.FMR1 gene and fragile X syndrome.Fragile sites-cytogenetic similarity with molecular diversity.Noninvasive test for fragile X syndrome, using hair root analysis.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 pubertThe FMR1 gene and fragile X-associated tremor/ataxia syndrome.Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.Mental status of females with an FMR1 gene full mutationA multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.X chromosome inactivation and X-linked mental retardation.Screening for fragile X syndrome: information needs for health planners.Nonrandom X inactivation and selection of fragile X full mutation in fetal fibroblasts.Functional brain activation during arithmetic processing in females with fragile X Syndrome is related to FMR1 protein expression.Affected sibs with fragile X syndrome exhibit an age-dependent decrease in the size of the fragile X full mutation.FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome.Quantitative measurement of FMRP in blood platelets as a new screening test for fragile X syndrome.Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.Contribution of the FMR1 gene mutation to human intellectual dysfunction.Cognitive and molecular aspects of fragile X.Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families.
P2860
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P2860
Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation
description
1991 nî lūn-bûn
@nan
1991 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Selection in blood cells from ...... mes carrying the full mutation
@ast
Selection in blood cells from ...... mes carrying the full mutation
@en
type
label
Selection in blood cells from ...... mes carrying the full mutation
@ast
Selection in blood cells from ...... mes carrying the full mutation
@en
prefLabel
Selection in blood cells from ...... mes carrying the full mutation
@ast
Selection in blood cells from ...... mes carrying the full mutation
@en
P2093
P2860
P356
P1476
Selection in blood cells from ...... mes carrying the full mutation
@en
P2093
P2860
P304
P356
10.1136/JMG.28.12.830
P407
P577
1991-12-01T00:00:00Z