| scholarly article | Q13442814 |
| P356 | DOI | 10.1093/HMG/1.8.571 |
| P698 | PubMed publication ID | 1301165 |
| P2093 | author name string | C. R. Scott | |
| S. H. Chen | |||
| R. S. Hansen | |||
| S. M. Gartler | |||
| C. D. Laird | |||
| P433 | issue | 8 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | CpG island | Q1138360 |
| P304 | page(s) | 571-578 | |
| P577 | publication date | 1992-11-01 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | Methylation analysis of CGG sites in the CpG island of the human FMR1 gene | |
| P478 | volume | 1 |
| Q44228392 | 5-Methylcytosine as a marker for the monitoring of DNA methylation |
| Q37417853 | A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome |
| Q30304392 | A genetic program for deletion of foreign DNA from the mammalian genome |
| Q35889635 | A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases |
| Q47263548 | A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy. |
| Q36140127 | A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication |
| Q30446005 | Activation of the lac repressor in the transgenic mouse |
| Q34699372 | An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals |
| Q41185035 | An assay for X inactivation based on differential methylation at the fragile X locus, FMR1. |
| Q91330234 | Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing |
| Q28307510 | Biological implications of the mechanism of action of human DNA (cytosine-5)methyltransferase |
| Q33765369 | Biology of the fragile X mental retardation protein, an RNA-binding protein |
| Q85226580 | CGG repeats associated with fragile X chromosome form left-handed Z-DNA structure |
| Q36550875 | Carcinogenic nickel silences gene expression by chromatin condensation and DNA methylation: a new model for epigenetic carcinogens |
| Q35250383 | Characterization of FMR1 promoter elements by in vivo-footprinting analysis. |
| Q52945069 | Chromosome fragility at FRAXA in human cleavage stage embryos at risk for fragile X syndrome. |
| Q36850114 | Clinical genetics in neurological disease |
| Q34665039 | Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure |
| Q52012797 | Contribution of the FMR1 gene mutation to human intellectual dysfunction |
| Q24672170 | CpG island methylator phenotype in colorectal cancer |
| Q40899609 | DNA methylation, heterochromatin and epigenetic carcinogens |
| Q72253503 | Diagnosis of fragile X syndrome by direct mutation analysis |
| Q72586891 | Dynamic mutations hit double figures |
| Q39720686 | Effect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression |
| Q45289855 | Enzymatic amplification of synthetic oligodeoxyribonucleotides: implications for triplet repeat expansions in the human genome |
| Q48075595 | Epigenetic gene inactivation induced by a cis-acting methylation center |
| Q33649463 | Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome |
| Q35194923 | Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. |
| Q34399378 | Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues |
| Q48300723 | FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome |
| Q34306129 | FMRP detection assay for the diagnosis of the fragile X syndrome |
| Q24793185 | Fragile X (CGG)n repeats induce a transcriptional repression in cis upon a linked promoter: evidence for a chromatin mediated effect |
| Q41167683 | Fragile X syndrome in humans and mice |
| Q64389728 | Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites |
| Q90566586 | GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome |
| Q35112163 | Gender-specific effect of Mthfr genotype and neonatal vigabatrin interaction on synaptic proteins in mouse cortex |
| Q33243918 | Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes |
| Q40489620 | Genes with triplet repeats: candidate mediators of neuropsychiatric disorders |
| Q35833288 | Genomic imprinting: mechanism and role in human pathology |
| Q34321945 | Genomic organization and transcriptional units at the myotonic dystrophy locus |
| Q35122090 | Hairpin-bisulfite PCR: assessing epigenetic methylation patterns on complementary strands of individual DNA molecules. |
| Q37853118 | Heads-up: new roles for the fragile X mental retardation protein in neural stem and progenitor cells |
| Q38309865 | Human Ku antigen tightly binds and stabilizes a tetrahelical form of the Fragile X syndrome d(CGG)n expanded sequence |
| Q34145956 | Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect |
| Q43002591 | Identification of restriction endonucleases sensitive to 5-cytosine methylation at non-CpG sites, including expanded (CAG)n/(CTG)n repeats. |
| Q39716950 | In vitro expansion of GGC:GCC repeats: identification of the preferred strand of expansion. |
| Q40868842 | In vitro reactivation of the FMR1 gene involved in fragile X syndrome |
| Q35433625 | 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? |
| Q36900707 | Instability and chromatin structure of expanded trinucleotide repeats |
| Q35643664 | Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor. |
| Q33620180 | Interruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structures |
| Q41315849 | Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome |
| Q33688926 | Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals |
| Q34749202 | Methylation of slipped duplexes, snapbacks and cruciforms by human DNA(cytosine-5)methyltransferase |
| Q72781919 | Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon |
| Q38853911 | Modeling simple repeat expansion diseases with iPSC technology. |
| Q33537385 | Molecular and cellular genetics of fragile X syndrome |
| Q74304202 | Molecular and cytogenetic analysis of familial Xp deletions |
| Q52006884 | Nucleosome assembly on methylated CGG triplet repeats in the fragile X mental retardation gene 1 promoter. |
| Q48275073 | Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain |
| Q26829684 | Nutrition, epigenetics, and metabolic syndrome |
| Q53422584 | Of Men and Mice: Modeling the Fragile X Syndrome. |
| Q24310425 | Purification of nuclear proteins from human HeLa cells that bind specifically to the unstable tandem repeat (CGG)n in the human FMR1 gene |
| Q39681923 | Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine |
| Q35643830 | Quantitative comparison of FMR1 gene expression in normal and premutation alleles |
| Q33678605 | Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal |
| Q34430581 | Rapid protein sequencing by tandem mass spectrometry and cDNA cloning of p20-CGGBP. A novel protein that binds to the unstable triplet repeat 5'-d(CGG)n-3' in the human FMR1 gene |
| Q36549606 | Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome |
| Q40396429 | Restriction endonuclease BsoFI is sensitive to the 5'-methylation of deoxycytidines in its recognition sequence |
| Q39720914 | Restriction endonuclease isoschizomers ItaI, BsoFI and Fsp4HI are characterised by differences in their sensitivities to CpG methylation |
| Q41579814 | Screening for fragile X syndrome: information needs for health planners |
| Q92546825 | Screening for rare epigenetic variations in autism and schizophrenia |
| Q34387221 | Single-cell analysis of unstable genes |
| Q40021880 | Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome |
| Q33958980 | Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism |
| Q51048165 | Susceptibility of heterochromatin to aphidicolin-induced chromosomal breakage. |
| Q73357821 | Tetrahelical forms of the fragile X syndrome expanded sequence d(CGG)(n) are destabilized by two heterogeneous nuclear ribonucleoprotein-related telomeric DNA-binding proteins |
| Q38317052 | The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation |
| Q38352689 | The cationic porphyrin TMPyP4 destabilizes the tetraplex form of the fragile X syndrome expanded sequence d(CGG)n |
| Q28201533 | The fragile X gene and its function |
| Q48061195 | The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells |
| Q73484548 | The fragile X syndrome |
| Q74809876 | The fragile X syndrome |
| Q35332048 | The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure |
| Q40754963 | The fragile X syndrome: implications of molecular genetics for the clinical syndrome |
| Q72345831 | Triad-DNA: a model for trinucleotide repeats |
| Q40959214 | Trinucleotide repeat expansion and human disease |
| Q36265488 | Trinucleotide repeats and neuropsychiatric disorders |
| Q35889234 | Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. |
| Q35643836 | Two new cases of FMR1 deletion associated with mental impairment. |
| Q33680162 | Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats |
| Q33682895 | X inactivation of the FMR1 fragile X mental retardation gene |
| Q73013123 | X-linked mental retardation |
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