scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1031698691 |
P356 | DOI | 10.1038/NG0596-109 |
P698 | PubMed publication ID | 8673086 |
P5875 | ResearchGate publication ID | 14528829 |
P2093 | author name string | D L Nelson | |
Y Shen | |||
Y Gu | |||
R A Gibbs | |||
P2860 | cites work | FRAXE and mental retardation | Q24517881 |
Direct selection: a method for the isolation of cDNAs encoded by large genomic regions | Q24560057 | ||
The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene | Q28201279 | ||
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome | Q28273791 | ||
cDNA selection: efficient PCR approach for the selection of cDNAs encoded in large chromosomal DNA fragments | Q33451156 | ||
Identification of the gene FMR2, associated with FRAXE mental retardation | Q34385889 | ||
130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus | Q34389658 | ||
Systematic screening of an arrayed cDNA library by PCR | Q34576819 | ||
5'-Terminal sequences of eucaryotic mRNA can be cloned with high efficiency | Q35710078 | ||
Exon amplification: a strategy to isolate mammalian genes based on RNA splicing | Q37506407 | ||
Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach | Q37644060 | ||
Absence of expression of the FMR-1 gene in fragile X syndrome | Q41669091 | ||
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n | Q44229778 | ||
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome | Q44959699 | ||
A simple protocol for the automation of DNA cycle sequencing reactions and polymerase chain reactions | Q48647587 | ||
Evolution of the cryptic FMR1 CGG repeat | Q52012799 | ||
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. | Q52034632 | ||
DNA methylation represses FMR-1 transcription in fragile X syndrome | Q52042005 | ||
Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus | Q72345714 | ||
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE | Q72586906 | ||
Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. | Q72608493 | ||
P433 | issue | 1 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | brain development | Q14330969 |
AF4/FMR2 family member 2 | Q21116351 | ||
CpG island | Q1138360 | ||
P304 | page(s) | 109-13 | |
P577 | publication date | 1996-05-01 | |
P1433 | published in | Nature Genetics | Q976454 |
P1476 | title | Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island | |
P478 | volume | 13 |
Q33334417 | 45S rDNA regions are chromosome fragile sites expressed as gaps in vitro on metaphase chromosomes of root-tip meristematic cells in Lolium spp. |
Q43743836 | A distamycin A-inducible fragile site, FRA8E, located in the region of the hereditary multiple exostoses gene, is not involved in HPV16 DNA integration and amplification |
Q56225641 | A literature network of human genes for high-throughput analysis of gene expression |
Q48256073 | A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse. |
Q48353031 | A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males |
Q33679067 | A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. |
Q40693826 | A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation |
Q22011110 | A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation |
Q33680815 | A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). |
Q24678726 | A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients |
Q22010909 | AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23) |
Q36410140 | Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes |
Q51953580 | Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23. |
Q37136069 | Association between pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections disease and tumor necrosis factor-α gene-308 g/a, -850 c/t polymorphisms in 4-12-year-old children in Adana/Turkey |
Q50305806 | Autism spectrum disorder: FRAXE mutation, a rare etiology |
Q28300848 | Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel |
Q47877248 | Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. |
Q37134343 | Chromatin remodeling in the noncoding repeat expansion diseases |
Q43444817 | Chromosome breakages associated with 45S ribosomal DNA sequences in spotted snakehead fish Channa punctatus |
Q39034749 | Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome |
Q48797273 | Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressing FRAXE. |
Q27681279 | Crystallographic characterization of CCG repeats |
Q73046581 | Cytogenetic analysis of obsessive-compulsive disorder (OCD): identification of a FRAXE fragile site |
Q37872024 | DNA methylation in neurodegenerative disorders: a missing link between genome and environment? |
Q35249738 | Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression |
Q38051773 | Developmental psychopathology: the role of structural variation in the genome |
Q36277192 | Diseases of unstable repeat expansion: mechanisms and common principles |
Q38622358 | Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency. |
Q48050907 | Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy |
Q39406761 | Drosophila lilliputian is required for proneural gene expression in retinal development. |
Q28256437 | Dynamic mutation: possible mechanisms and significance in human disease |
Q44877488 | E-motif formed by extrahelical cytosine bases in DNA homoduplexes of trinucleotide and hexanucleotide repeats |
Q36011654 | Epigenetic mechanisms in memory formation. |
Q37870034 | Epigenetic regulation of gene expression in physiological and pathological brain processes |
Q36848454 | Epigenetics in nucleotide repeat expansion disorders |
Q36231705 | Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder |
Q35882071 | Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males |
Q51971383 | Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. |
Q35550087 | FMR2 function: insight from a mouse knockout model |
Q24315656 | FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure |
Q54280704 | Fluorescence Probe for Detecting CCG Trinucleotide Repeat DNA Expansion and Slip-Out. |
Q34185158 | Fragile X syndrome. Molecular and clinical insights and treatment issues |
Q77724528 | Fragile sites still breaking |
Q51984692 | Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians. |
Q30792869 | Fusion of an AF4-related gene, LAF4, to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23) |
Q28257362 | Gene characterization, promoter analysis, and chromosomal localization of human bleomycin hydrolase |
Q34542327 | Genetic effects on human cognition: lessons from the study of mental retardation syndromes |
Q35236356 | Genetics of inherited human epilepsies |
Q24311516 | Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region |
Q36967946 | Identification of Arx transcriptional targets in the developing basal forebrain |
Q35441852 | Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation |
Q37011386 | Identification of novel regulators of atonal expression in the developing Drosophila retina. |
Q28586975 | Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice |
Q34306151 | In search of the MRX genes |
Q43092408 | Increasing Tip60 HAT levels rescues axonal transport defects and associated behavioral phenotypes in a Drosophila Alzheimer's disease model |
Q28513902 | Infertility with defective spermiogenesis in mice lacking AF5q31, the target of chromosomal translocation in human infant leukemia |
Q28268824 | Interaction of AF4 wild-type and AF4.MLL fusion protein with SIAH proteins: indication for t(4;11) pathobiology? |
Q47351608 | Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions. |
Q35296262 | Is mental retardation a defect of synapse structure and function? |
Q34146868 | LAF4, an AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia |
Q35232809 | Laf4/Aff3, a gene involved in intellectual disability, is required for cellular migration in the mouse cerebral cortex |
Q34657522 | Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions |
Q35881984 | Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. |
Q31147032 | Laser capture microdissection-based in vivo genomic profiling of wound keratinocytes identifies similarities and differences to squamous cell carcinoma |
Q51967079 | Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. |
Q51977854 | Localization of the fragile X mental retardation 2 (FMR2) protein in mammalian brain. |
Q34275143 | MLL fusion partners AF4 and AF9 interact at subnuclear foci |
Q37570724 | Mediation of Af4 protein function in the cerebellum by Siah proteins |
Q52618070 | Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay. |
Q24681930 | Microdeletions in FMR2 may be a significant cause of premature ovarian failure |
Q51974770 | Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. |
Q37832902 | Modifiers and mechanisms of multi-system polyglutamine neurodegenerative disorders: lessons from fly models. |
Q73807864 | Molecular diagnosis of the fragile X and FRAXE syndromes in patients with mental retardation of unknown cause in Mexico |
Q34405465 | Molecular mechanisms of leukemogenesis mediated by MLL fusion proteins |
Q34354315 | Monogenic causes of X-linked mental retardation. |
Q24290357 | Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation |
Q33998564 | Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation |
Q41170292 | Myotonic dystrophy: will the real gene please step forward! |
Q36872209 | Noncoding RNAs and RNA editing in brain development, functional diversification, and neurological disease |
Q47215690 | Phf8 histone demethylase deficiency causes cognitive impairments through the mTOR pathway |
Q58464323 | Possible founder effects for FRAXE alleles |
Q63649593 | Predicting the mutations generated by repair of Cas9-induced double-strand breaks |
Q51944957 | Prevalence of the fragile X syndrome in Yugoslav patients with non-specific mental retardation. |
Q24538917 | Renpenning syndrome maps to Xp11. |
Q41579814 | Screening for fragile X syndrome: information needs for health planners |
Q32079858 | Sequence and gene content in 35 kb genomic clone mapping in the human Xq27.1 region. |
Q26851232 | Structural studies of CNG repeats |
Q52607744 | Structure and Dynamics of DNA and RNA Double Helices Obtained from the CCG and GGC Trinucleotide Repeats. |
Q49339127 | Tandem repeats mediating genetic plasticity in health and disease |
Q51165295 | The Genetics of C9orf72 Expansions. |
Q37204533 | The biological effects of simple tandem repeats: lessons from the repeat expansion diseases |
Q33945296 | The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR). |
Q41477080 | The complex pathology of trinucleotide repeats |
Q47998920 | The interplay between DNA methylation, folate and neurocognitive development |
Q44122161 | The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay |
Q37273647 | The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome |
Q47314769 | The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission |
Q27692038 | The super elongation complex (SEC) and MLL in development and disease |
Q36210873 | The super elongation complex family of RNA polymerase II elongation factors: gene target specificity and transcriptional output |
Q40532537 | The synthetic peptide PFWT disrupts AF4-AF9 protein complexes and induces apoptosis in t(4;11) leukemia cells |
Q31840219 | The untranslated region of (mu)-opioid receptor mRNA contributes to reduced opioid sensitivity in CXBK mice. |
Q35550055 | Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia |
Q91558625 | Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD |
Q35430841 | Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1. |
Q24681478 | X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation |
Q36239035 | X linked mental retardation: a clinical guide |
Q56270643 | X-linked mental retardation |
Q35026980 | X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms |
Q41127106 | XLMR genes: update 1996. |
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