Published in J Med Genet on November 01, 1992
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Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
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The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing. J Med Genet (1997) 1.04
Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P. Dis Model Mech (2010) 1.02
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An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. Am J Hum Genet (1995) 0.98
Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring. Am J Hum Genet (1995) 0.97
In vivo neuronal function of the fragile X mental retardation protein is regulated by phosphorylation. Hum Mol Genet (2011) 0.96
Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells. Am J Hum Genet (2001) 0.95
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The fragile X premutation in carriers and its effect on mutation size in offspring. Am J Hum Genet (1995) 0.93
FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males. Am J Hum Genet (1999) 0.91
Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission. Am J Hum Genet (1996) 0.87
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Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome. Am J Hum Genet (1995) 0.85
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Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders. BMC Clin Pathol (2009) 0.83
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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell (1992) 12.74
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell (1991) 12.27
Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms. Genomics (1990) 9.41
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science (1992) 9.32
An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science (1992) 8.20
Absence of expression of the FMR-1 gene in fragile X syndrome. Cell (1991) 7.04
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science (1991) 5.99
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med (1991) 4.61
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell (1991) 3.98
Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet (1985) 3.42
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Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male. Nature (1984) 2.28
Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation. Genetics (1987) 2.17
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Demethylation of CpG islands in embryonic cells. Nature (1991) 1.92
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Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island. Science (1991) 1.82
Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J Med Genet (1991) 1.71
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. Am J Med Genet (1992) 1.70
Detection of full fragile X mutation. Lancet (1992) 1.55
Incomplete X chromosome dosage compensation in chorionic villi of human placenta. Proc Natl Acad Sci U S A (1985) 1.53
Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. J Med Genet (1991) 1.23
Multilocus analysis of the fragile X syndrome. Hum Genet (1988) 1.12
Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families. Am J Hum Genet (1988) 1.10
On some technical aspects of direct DNA diagnosis of the fragile X syndrome. Am J Med Genet (1992) 1.05
Two progenitor cells for human oogonia inferred from pedigree data and the X-inactivation imprinting model of the fragile-X syndrome. Am J Hum Genet (1990) 0.96
A reinvestigation of thirty three fragile(X) families using probe StB12.3. Am J Med Genet (1992) 0.95
Insights into X chromosome inactivation from studies of species variation, DNA methylation and replication, and vice versa. Genet Res (1991) 0.94
Programmed demethylation in CpG islands during human fetal development. Somat Cell Mol Genet (1991) 0.85
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science (1996) 11.59
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science (1991) 7.16
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Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med (1996) 6.57
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The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet (1993) 4.57
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Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron (1997) 3.73
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet (1996) 3.67
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif. EMBO J (2001) 3.42
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Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet (1996) 3.26
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature (1996) 3.21
The von Hippel-Lindau tumor suppressor protein is a component of an E3 ubiquitin-protein ligase activity. Genes Dev (1999) 3.17
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet (1997) 3.11
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet (1997) 2.77
Origin of the expansion mutation in myotonic dystrophy. Nat Genet (1993) 2.70
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Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male. Nature (1984) 2.28
Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A (1984) 2.23
Rapid antibody test for fragile X syndrome. Lancet (1995) 2.22
A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Proc Natl Acad Sci U S A (2001) 2.17
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Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes. Am J Hum Genet (1992) 2.10
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Quantitative comparison of FMR1 gene expression in normal and premutation alleles. Am J Hum Genet (1995) 1.91
A cellular model that recapitulates major pathogenic steps of Huntington's disease. Hum Mol Genet (1998) 1.87
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat Genet (1999) 1.87
Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. Neurology (1993) 1.84
Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island. Science (1991) 1.82
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A 230kb cosmid walk in the Duchenne muscular dystrophy gene: detection of a conserved sequence and of a possible deletion prone region. Nucleic Acids Res (1987) 1.72
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. Am J Med Genet (1992) 1.70
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Genetic mapping of new RFLPs at Xq27-q28. Genomics (1991) 1.60
Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics (1989) 1.59
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Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes. Am J Hum Genet (1993) 1.50
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture. Hum Mol Genet (1995) 1.50
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A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein. Hum Mol Genet (1999) 1.38
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A 195-kb cosmid walk encompassing the human Xq28 color vision pigment genes. Genomics (1990) 1.28
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