| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/NG0994-88 |
| P8608 | Fatcat ID | release_zkehh4tlpbe43k5xy5h6epypny |
| P698 | PubMed publication ID | 7987398 |
| P5875 | ResearchGate publication ID | 15212640 |
| P2093 | author name string | Ward PA | |
| Reiss AL | |||
| Richards CS | |||
| Nelson DL | |||
| Eichler EE | |||
| Thibodeau SN | |||
| Snow K | |||
| Holden JJ | |||
| Popovich BW | |||
| P2860 | cites work | Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox | Q28235115 |
| Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome | Q28273791 | ||
| Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair | Q29618879 | ||
| Microsatellite instability in cancer of the proximal colon | Q29620692 | ||
| Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation | Q33594670 | ||
| Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site | Q33597886 | ||
| Further segregation analysis of the fragile X syndrome with special reference to transmitting males | Q34192224 | ||
| Eukaryotic DNA replication. Enzymes and proteins acting at the fork | Q38018299 | ||
| Advances in molecular analysis of fragile X syndrome | Q40811458 | ||
| Hypermutability and mismatch repair deficiency in RER+ tumor cells | Q41508298 | ||
| Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. | Q41516217 | ||
| Origins of the fragile X syndrome mutation | Q41653200 | ||
| Absence of expression of the FMR-1 gene in fragile X syndrome | Q41669091 | ||
| Fragile X genotype characterized by an unstable region of DNA. | Q43980470 | ||
| Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome | Q44959699 | ||
| Trinucleotide repeat instability: when and where? | Q45290651 | ||
| Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation | Q47379137 | ||
| A tetranucleotide repeat mouse minisatellite displaying substantial somatic instability during early preimplantation development | Q48111801 | ||
| Instability of short tandem repeats (microsatellites) in human cancers. | Q48181678 | ||
| Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat | Q48255852 | ||
| Frequency and stability of the fragile X premutation. | Q52028259 | ||
| Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. | Q52032643 | ||
| Detection of full fragile X mutation. | Q52045891 | ||
| The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. | Q54047243 | ||
| Preferential DNA secondary structure mutagenesis in the lagging strand of replication in E. coli | Q54693237 | ||
| Complex gene conversion events in germline mutation at human minisatellites | Q58992797 | ||
| Evidence of founder chromosomes in fragile X syndrome | Q67482177 | ||
| Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability | Q70484890 | ||
| Founder effect in a Belgian-Dutch fragile X population | Q70497047 | ||
| Simple repeat DNA is not replicated simply | Q72372652 | ||
| Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase | Q72761346 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 88-94 | |
| P577 | publication date | 1994-09-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Length of uninterrupted CGG repeats determines instability in the FMR1 gene | |
| P478 | volume | 8 |
| Q38751622 | A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders |
| Q30584448 | A comparison of two indirect methods for estimating average levels of gene flow using microsatellite data |
| 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 |
| Q40715457 | A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population |
| Q51939732 | A new insight into fragile X syndrome among Basque population. |
| Q51898513 | A novel duplication in the FMR1 gene: implications for molecular analysis in fragile X syndrome and repeat instability. |
| Q71621149 | A rapid, reliable, and inexpensive method for detection of di- and trinucleotide repeat markers and disease loci from dried blood spots |
| Q52200257 | A survey of FRAXE allele sizes in three populations. |
| Q34020825 | AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission |
| Q37708595 | AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome |
| Q35049830 | AGG/CCT interruptions affect nucleosome formation and positioning of healthy-length CGG/CCG triplet repeats |
| Q78207888 | Abasic sites induce triplet-repeat expansion during DNA replication in vitro |
| Q60956610 | Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers |
| Q28087781 | Advanced technologies for the molecular diagnosis of fragile X syndrome |
| Q32166370 | An empirical evaluation of genetic distance statistics using microsatellite data from bear (Ursidae) populations. |
| Q34084834 | An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis |
| Q54092693 | Analysis of DNA replication intermediates suggests mechanisms of repeat sequence expansion. |
| Q37185697 | Analysis of the Fragile X Trinucleotide Repeat in Basques: Association of Premutation and Intermediate Sizes, Anchoring AGGs and Linked Microsatellites with Unstable Alleles. |
| Q50715216 | At what rate do new premutation alleles arise at the fragile X locus? |
| Q73196387 | Big, bad minisatellites |
| Q40959185 | Biological significance of minisatellites |
| Q33765369 | Biology of the fragile X mental retardation protein, an RNA-binding protein |
| Q79568360 | CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci |
| Q24644358 | CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup |
| Q38331560 | CGG repeat interruptions in the FMR1 gene in patients with infantile autism |
| Q48505299 | CGG repeat length and AGG interruptions as indicators of fragile X-associated diminished ovarian reserve |
| Q54595038 | CTG triplet repeats from human hereditary diseases are dominant genetic expansion products in Escherichia coli. |
| Q34117236 | Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation. |
| Q35230078 | Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency |
| Q34665039 | Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure |
| Q24317096 | Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats |
| Q54585390 | Cloning, characterization, and properties of seven triplet repeat DNA sequences. |
| Q90371561 | Common-variant associations with fragile X syndrome |
| Q35024637 | Compound microsatellite repeats: practical and theoretical features |
| Q28305523 | Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses |
| Q35643559 | Correlation between CAG repeat length and clinical features in Machado-Joseph disease |
| Q37518254 | DNA elements important for CAG*CTG repeat thresholds in Saccharomyces cerevisiae. |
| Q81140946 | DNA methylation and replication: implications for the "deletion hotspot" region of FMR1 |
| Q92924573 | Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample |
| Q35882292 | Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission |
| Q42482484 | Deficits in trace fear memory and long-term potentiation in a mouse model for fragile X syndrome. |
| Q55262442 | Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience. |
| Q47869201 | Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing |
| Q34699848 | Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats |
| Q28073062 | Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations |
| Q34983517 | Distribution of AGG interruption patterns within nine world populations. |
| Q35648052 | Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population |
| Q35130555 | Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli |
| Q92891069 | Dynamics of strand slippage in DNA hairpins formed by CAG repeats: roles of sequence parity and trinucleotide interrupts |
| Q36338209 | EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders |
| Q40323951 | Effects of sequence on repeat expansion during DNA replication |
| Q35697473 | Elevated FMR1 mRNA in premutation carriers is due to increased transcription. |
| Q50641018 | Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women. |
| Q36658216 | Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations |
| Q52012799 | Evolution of the cryptic FMR1 CGG repeat |
| Q51003946 | Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females. |
| Q54611269 | Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli |
| Q37261861 | Expansion of an FMR1 grey-zone allele to a full mutation in two generations |
| Q35644074 | Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring |
| Q24610645 | Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles |
| Q51943957 | Expansion to full mutation of a FMR1 intermediate allele over two generations. |
| Q91724232 | Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles |
| Q46146586 | FMR1 CGG repeat patterns and flanking haplotypes in three Asian populations and their relationship with repeat instability. |
| Q34390164 | FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males |
| Q41949795 | FMR1 in global populations |
| Q33682546 | FMR1 triplet arrays: paying the price for perfection |
| Q58801569 | FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation |
| Q24801535 | Facile FMR1 mRNA structure regulation by interruptions in CGG repeats |
| Q35882271 | Familial transmission of the FMR1 CGG repeat. |
| Q22122044 | Fine-scale structural variation of the human genome |
| Q37351799 | Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly |
| Q55692015 | Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. |
| Q59806856 | Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review |
| Q50796081 | Fragile X analysis of 1112 prenatal samples from 1991 to 2010. |
| Q46579636 | Fragile X carrier screening in Korean women of reproductive age. |
| Q71578938 | Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity |
| Q48062203 | Fragile X founder effects and new mutations in Finland |
| Q50623363 | Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers. |
| Q35644624 | Fragile X gene instability: anchoring AGGs and linked microsatellites |
| Q34773158 | Fragile X mental retardation protein regulates heterosynaptic plasticity in the hippocampus |
| Q41167683 | Fragile X syndrome in humans and mice |
| Q35691404 | Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder |
| Q47996848 | Fragile X syndrome screening in pregnant women and women planning pregnancy shows a remarkably high FMR1 premutation prevalence in the Balearic Islands |
| Q33576328 | Fragile X syndrome: a review of clinical and molecular diagnoses |
| Q24629837 | Fragile X syndrome: the FMR1 CGG repeat distribution among world populations |
| Q41684295 | Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations |
| Q37524454 | Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms |
| Q39991571 | Frequent mutations in the 3'-untranslated region of IFNGR1 lack functional impairment in microsatellite-unstable colorectal tumours |
| Q73813232 | GGA*TCC-interrupted triplets in long GAA*TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities |
| Q45307587 | Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. |
| Q73004193 | Gene conversion (recombination) mediates expansions of CTG[middle dot]CAG repeats |
| Q38542561 | Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors |
| Q36208811 | Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors |
| Q34112017 | Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population. |
| Q40927942 | Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions |
| Q71578944 | Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations |
| Q36305963 | Group I mGluR antagonist rescues the deficit of D1-induced LTP in a mouse model of fragile X syndrome |
| Q54534838 | Hairpin formation in Friedreich's ataxia triplet repeat expansion. |
| Q50567156 | Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: implications for multiple mutational pathways towards fragile X alleles. |
| Q51999063 | Hierarchical Bayes model for random haplotype and family effects in the transmission of fragile-X. |
| Q79463864 | Highly constrained proteins contain an unexpectedly large number of amino acid tandem repeats |
| Q30962381 | Huntington disease expansion mutations in humans can occur before meiosis is completed |
| Q51050967 | Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles. |
| Q28215990 | Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with microsatellite instability |
| Q50429610 | Improved Assays for AGG Interruptions in Fragile X Premutation Carriers. |
| Q39716950 | In vitro expansion of GGC:GCC repeats: identification of the preferred strand of expansion. |
| Q41974604 | Influences of array size and homogeneity on minisatellite mutation. |
| Q81140965 | Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms |
| Q35643664 | Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor. |
| Q51996767 | Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles. |
| Q35212704 | Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes. |
| 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 |
| Q72586906 | Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE |
| Q35881984 | Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. |
| Q36695167 | MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes |
| Q58049134 | Machado–Joseph disease in three Scandinavian families |
| Q35173293 | Mechanism of siRNA production from repetitive DNA |
| Q40431790 | Mechanisms of DNA expansion |
| Q33688926 | Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals |
| Q28540820 | Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomes |
| Q35064141 | Microsatellite repeat instability and neurological disease |
| Q24545497 | Mini- and microsatellites |
| Q33750656 | Mismatch repair in Escherichia coli enhances instability of (CTG)n triplet repeats from human hereditary diseases |
| Q39723543 | Mismatched nucleotides may facilitate expansion of trinucleotide repeats in genetic diseases |
| Q28077980 | Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders |
| Q28277837 | Molecular basis of genetic instability of triplet repeats |
| Q44178932 | Molecular understanding of aluminum-induced topological changes in (CCG)12 triplet repeats: relevance to neurological disorders |
| Q35881955 | Mutation rate in the hypervariable VNTR g3 (D7S22) is affected by allele length and a flanking DNA sequence polymorphism near the repeat array |
| Q39043041 | Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis. |
| Q34401500 | Northern blot analysis of simple repetitive sequence transcription in plants |
| Q38332141 | Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism |
| Q53422584 | Of Men and Mice: Modeling the Fragile X Syndrome. |
| Q42587491 | On the formation of nucleosomes within the FMR1 trinucleotide repeat |
| Q89721926 | On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability |
| Q37217477 | Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range |
| Q45294379 | Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability |
| Q34390843 | Patterns of instability of expanded CAG repeats at the ERDA1 locus in general populations |
| Q41136711 | Perspectives and molecular diagnosis of the fragile X syndrome. |
| Q34297160 | Perspectives on the use of electrospray ionization Fourier transform ion cyclotron resonance mass spectrometry for short tandem repeat genotyping in the post-genome era. |
| Q34152667 | Polyglutamine repeats are associated to specific sequence biases that are conserved among eukaryotes. |
| Q35644120 | Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome |
| Q45295470 | Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28. |
| Q41351985 | Potential pharmacological treatment of fragile X syndrome during adulthood |
| Q35239079 | Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype |
| Q51973695 | Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation. |
| Q35643934 | Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome. |
| Q28678675 | Properties and rates of germline mutations in humans |
| 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 |
| Q47630636 | Recent advances in assays for the fragile X-related disorders. |
| Q52008417 | Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome. |
| Q58706607 | Reduced synaptic function of Kainate receptors in the insular cortex of Fmr1 Knock-out mice |
| Q47556768 | Repeat expansion diseases |
| Q35680075 | Repeat instability during DNA repair: Insights from model systems |
| Q27011565 | Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders |
| Q52200259 | Reverse mutations in the fragile X syndrome. |
| Q42617887 | SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias |
| Q38336705 | SMARCA2 and THAP11: potential candidates for polyglutamine disorders as evidenced from polymorphism and protein-folding simulation studies |
| Q41579814 | Screening for fragile X syndrome: information needs for health planners |
| Q71578932 | Significance of linkage disequilibrium between the fragile X locus and its flanking markers |
| Q24561717 | Simple tandem DNA repeats and human genetic disease |
| Q36811533 | Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis |
| Q47236766 | Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys. |
| Q38920529 | Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders. |
| Q40021880 | Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome |
| Q34599367 | Stability of intrastrand hairpin structures formed by the CAG/CTG class of DNA triplet repeats associated with neurological diseases |
| Q33958980 | Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism |
| Q42967686 | Stabilization of microsatellite sequences by variant repeats in the yeast Saccharomyces cerevisiae |
| Q34329432 | Stabilization of perfect and imperfect tandem repeats by single-strand DNA exonucleases |
| Q33961257 | Stabilizing effects of interruptions on trinucleotide repeat expansions in Saccharomyces cerevisiae |
| Q37747172 | Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions |
| Q28077015 | Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene |
| Q34569942 | Survey and analysis of microsatellites in the silkworm, Bombyx mori: frequency, distribution, mutations, marker potential and their conservation in heterologous species |
| Q39813107 | Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population |
| Q37577036 | The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells |
| Q60657720 | The FMR1 CGG repeat and linked microsatellite markers in two Basque valleys |
| Q35061671 | The FMR1 gene and fragile X-associated tremor/ataxia syndrome |
| Q37204533 | The biological effects of simple tandem repeats: lessons from the repeat expansion diseases |
| Q50118950 | The central role of DNA damage and repair in CAG repeat diseases |
| Q35020600 | The complex mutation pattern of a microsatellite |
| Q41477080 | The complex pathology of trinucleotide repeats |
| Q35550046 | The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence |
| Q33679225 | The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing |
| Q28201533 | The fragile X gene and its function |
| Q35644289 | The fragile X premutation in carriers and its effect on mutation size in offspring |
| Q73484548 | The fragile X syndrome |
| Q74809876 | The fragile X syndrome |
| Q42951074 | The high prevalence of fragile X premutation carrier females: is this frequency unique to the French Canadian population? |
| Q38901729 | The impact of FMR1 gene mutations on human reproduction and development: a systematic review |
| Q26852891 | The multiple molecular facets of fragile X-associated tremor/ataxia syndrome |
| Q50789250 | The myotonic dystrophy type 1 triplet repeat sequence induces gross deletions and inversions. |
| Q27010529 | The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective |
| Q92895910 | The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity |
| Q47314769 | The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission |
| Q71806485 | The stabilization of repetitive tracts of DNA by variant repeats requires a functional DNA mismatch repair system |
| Q27025923 | The unstable repeats--three evolving faces of neurological disease |
| Q47437662 | Tightly linked di- and tri-nucleotide microsatellites do not evolve in complete independence: evidence from linked (TA)n and (TAA)n microsatellites of chickpea (Cicer arietinum L.). |
| Q28537978 | Transcription-associated R-loop formation across the human FMR1 CGG-repeat region |
| Q26739927 | Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome |
| Q37421101 | Translation of the FMR1 mRNA is not influenced by AGG interruptions |
| Q37730919 | Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions |
| Q41527084 | Trinucleotide Repeat Instability: Genetic Features and Molecular Mechanisms |
| Q40959214 | Trinucleotide repeat expansion and human disease |
| Q35550042 | Trinucleotide repeat instability: a hairpin curve at the crossroads of replication, recombination, and repair |
| Q71621199 | Trinucleotide repeats at the FRAXF locus: frequency and distribution in the general population |
| Q47903001 | Triplet repeat expansion generated by DNA slippage is suppressed by human flap endonuclease 1. |
| Q34446575 | Triplet repeats, over-expanded in neuromuscular diseases, are under-represented in mammalian DNA: a survey of models |
| Q33904840 | Two modes of germline instability at human minisatellite MS1 (locus D1S7): complex rearrangements and paradoxical hyperdeletion. |
| Q35603679 | Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles |
| Q36690750 | Unique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP Haplotype |
| Q26996649 | Unstable mutations in the FMR1 gene and the phenotypes |
| Q33676149 | Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome |
| Q88384369 | Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism |
| Q47801195 | Validation of Polymerase Chain Reaction-Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients |
| Q50439859 | Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. |
| Q98772284 | Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1 |
| Q38760731 | Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits |
| Q73013123 | X-linked mental retardation |
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