Genotype-phenotype relationships in fragile X syndrome: a family study.
about
FRAXE and mental retardation.Fragile X spectrum disordersUnstable mutations in the FMR1 gene and the phenotypesMethylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.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.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 utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencyResolution of spatial and temporal visual attention in infants with fragile X syndrome.Quantitative comparison of FMR1 gene expression in normal and premutation allelesExpansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.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.Fragile-X syndrome: genetic aspects and stomatologic evaluations.Human pluripotent stem cell models of Fragile X syndrome.Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells.
P2860
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P2860
Genotype-phenotype relationships in fragile X syndrome: a family study.
description
1993 nî lūn-bûn
@nan
1993 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Genotype-phenotype relationships in fragile X syndrome: a family study.
@ast
Genotype-phenotype relationships in fragile X syndrome: a family study.
@en
type
label
Genotype-phenotype relationships in fragile X syndrome: a family study.
@ast
Genotype-phenotype relationships in fragile X syndrome: a family study.
@en
prefLabel
Genotype-phenotype relationships in fragile X syndrome: a family study.
@ast
Genotype-phenotype relationships in fragile X syndrome: a family study.
@en
P2093
P2860
P1476
Genotype-phenotype relationships in fragile X syndrome: a family study
@en
P2093
P2860
P304
P407
P577
1993-11-01T00:00:00Z