Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
about
Normal development of brain circuitsRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersModeling Fragile X Syndrome Using Human Pluripotent Stem CellsMolecular and cellular genetics of fragile X syndrome.CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.The unstable trinucleotide repeat story of major psychosis.C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.Clinical and molecular implications of mosaicism in FMR1 full mutations.Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissuesHypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Epigenetic contributors to the discordance of monozygotic twins.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencyA 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis.Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.Repeat instability: mechanisms of dynamic mutations.EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersGenomic instability in pluripotent stem cells: implications for clinical applications.The Role of MicroRNAs in Cerebellar Development and Autism Spectrum Disorder During Embryogenesis.Fragile X syndrome in humans and mice.Screening for fragile X syndrome: information needs for health planners.Nonrandom X inactivation and selection of fragile X full mutation in fetal fibroblasts.Genome-wide demethylation destabilizes CTG.CAG trinucleotide repeats in mammalian cells.Size and methylation mosaicism in males with Fragile X syndrome.The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.Postmortem examination of two fragile X brothers with an FMR1 full mutation.FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome.Correlation between FMR1 expression and clinical phenotype in discordant dichorionic-diamniotic monozygotic twin sisters with the fragile X mutation.Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females.Tissue-specific methylation differences in a fragile X premutation carrier.Clinical involvement and protein expression in individuals with the FMR1 premutation.
P2860
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P2860
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
description
article
@en
im April 1992 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у квітні 1992
@uk
name
Analysis of full fragile X mut ...... tablished early in development
@en
Analysis of full fragile X mut ...... tablished early in development
@nl
type
label
Analysis of full fragile X mut ...... tablished early in development
@en
Analysis of full fragile X mut ...... tablished early in development
@nl
prefLabel
Analysis of full fragile X mut ...... tablished early in development
@en
Analysis of full fragile X mut ...... tablished early in development
@nl
P2093
P356
P1476
Analysis of full fragile X mut ...... tablished early in development
@en
P2093
P304
P356
10.1002/AJMG.1320430134
P50
P577
1992-04-01T00:00:00Z