Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses
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Carol Dobson-Stone | Maria Fraser | Lorraine Southam | A. Monaco | R. Cox | L. Southam | C. Wise | C. Dobson-Stone | S. Hodgson | F. Bernier | L. Lonie | Anthony P Monaco | Shirley Hodgson | Roger D Cox | Carol Wise | Lorne Lonie | François Bernier | Daniel E Porter | A Hamish RW Simpson | D. Porter | D. Porter | A. Simpson | M. Fraser
[1] A. Monaco,et al. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. , 1997, American journal of human genetics.
[2] D. Glavač,et al. Optimization of the single‐strand conformation polymorphism (SSCP) technique for detection of point mutations , 1993, Human mutation.
[3] E. Conrad,et al. The natural history of hereditary multiple exostoses. , 1994, The Journal of bone and joint surgery. American volume.
[4] M. Wagner,et al. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1) , 1995, Nature Genetics.
[5] M. Wagner,et al. Identification of novel mutations in the human EXT1 tumor suppressor gene , 1997, Human Genetics.
[6] E. Wijsman,et al. Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses , 1998, Human mutation.
[7] E. Conrad,et al. Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. , 1995, American journal of human genetics.
[8] L. Liotta,et al. Molecular mediators of interactions with extracellular matrix components in metastasis and angiogenesis. , 1994, Current opinion in oncology.
[9] K. Yoshimoto,et al. Multiple fluorescence-based PCR-SSCP analysis. , 1994, BioTechniques.
[10] M. Lovett,et al. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes , 1996, Nature Genetics.
[11] C. McCormick,et al. The Putative Tumor Suppressors EXT1 and EXT2 Are Glycosyltransferases Required for the Biosynthesis of Heparan Sulfate* , 1998, The Journal of Biological Chemistry.
[12] B. D. de Vries,et al. Positional cloning of a gene involved in hereditary multiple exostoses. , 1996, Human molecular genetics.
[13] K. Hayashi,et al. PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA. , 1991, PCR methods and applications.
[14] T. Sekiya,et al. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[15] R. Hennekam. Hereditary multiple exostoses. , 1991, Journal of medical genetics.
[16] B. D. de Vries,et al. Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. , 1995, American journal of human genetics.
[17] L. Strong,et al. Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. , 1997, American journal of human genetics.
[18] A. Munnich,et al. A gene for hereditary multiple exostoses maps to chromosome 19p. , 1994, Human molecular genetics.
[19] G. Mortier,et al. Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. , 1998, American journal of human genetics.
[20] M. O’Donovan,et al. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. , 1998, Genomics.
[21] D. Gjerde,et al. Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system. , 1997, Genetic testing.
[22] L. Strong,et al. Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. , 1995, American journal of human genetics.
[23] B. D. de Vries,et al. Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. , 1994, Human molecular genetics.
[24] T. Tahira,et al. A streamlined mutation detection system: multicolor post-PCR fluorescence labeling and single-strand conformational polymorphism analysis by capillary electrophoresis. , 1997, Genome research.
[25] V. Sheffield,et al. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. , 1993, Genomics.
[26] D. Martindale,et al. The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate , 1998, Nature Genetics.
[27] B. Dworniczak,et al. Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols , 1998, European Journal of Human Genetics.
[28] I. Kremensky,et al. Optimization of single-strand conformation polymorphism analysis in the presence of polyethylene glycol. , 1997, Clinical chemistry.
[29] G. Schellenberg,et al. Genetic heterogeneity in families with hereditary multiple exostoses. , 1993, American journal of human genetics.