about
DUF1220 dosage is linearly associated with increasing severity of the three primary symptoms of autismSequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X geneFragile X syndrome: the FMR1 CGG repeat distribution among world populationsThe multiple molecular facets of fragile X-associated tremor/ataxia syndromeDendritic spine dysgenesis in autism related disordersTherapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and BackStudy of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 GeneThe impact in older women of ovarian FMR1 genotypes and sub-genotypes on ovarian reserveNeural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study.Memantine effects on verbal memory in fragile X-associated tremor/ataxia syndrome (FXTAS): a double-blind brain potential study.Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study.Gender and cell-type-specific effects of the transcription-coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disordersA wide extent of inter-strain diversity in virulent and vaccine strains of alphaherpesviruses.Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndromeExpression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans.The role of long non-coding RNAs in neurodevelopment, brain function and neurological diseaseCis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation.BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?A comparison of the whole genome approach of MeDIP-seq to the targeted approach of the Infinium HumanMethylation450 BeadChip(®) for methylome profiling.FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndromePostpartum Depression in Women with the FMR1 Premutation.Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutationComparison of ovarian FMR1 genotypes and sub-genotypes in oocyte donors and infertile womenCurrent Gaps in Understanding the Molecular Basis of FXTASInduced expression of expanded CGG RNA causes mitochondrial dysfunction in vivoEMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersPresence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency.Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndromeThe disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structuresFMR1, circadian genes and depression: suggestive associations or false discovery?Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS.Epigenetics and autism.The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutationsCGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.Phenotypes of hypofrontality in older female fragile X premutation carriersPopulation-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells.Primary ovarian insufficiency: an update.Expanded complexity of unstable repeat diseases.Current concepts in premature ovarian insufficiency.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
CGG repeat in the FMR1 gene: size matters
@ast
CGG repeat in the FMR1 gene: size matters
@en
type
label
CGG repeat in the FMR1 gene: size matters
@ast
CGG repeat in the FMR1 gene: size matters
@en
prefLabel
CGG repeat in the FMR1 gene: size matters
@ast
CGG repeat in the FMR1 gene: size matters
@en
P2093
P2860
P1433
P1476
CGG repeat in the FMR1 gene: size matters
@en
P2093
B A Oostra
R Willemsen
P2860
P304
P356
10.1111/J.1399-0004.2011.01723.X
P577
2011-06-30T00:00:00Z