High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene
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M. Genuardi | R. Sestini | R. Tricarico | R. Valanzano | F. Tonelli | C. Orlando | F. Crucianelli | A. Alvau | Claudio Orlando | Antonio Alvau | Francesco Tonelli | Maurizio Genuardi
[1] P. Sergouniotis,et al. A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls. , 2011, Investigative ophthalmology & visual science.
[2] E. Capoluongo,et al. Common Genetic Variants of MUTYH are not Associated with Cutaneous Malignant Melanoma: Application of Molecular Screening by Means of High-Resolution Melting Technique in a Pilot Case-Control Study , 2011, The International journal of biological markers.
[3] Aung Ko Win,et al. A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants , 2010, British Journal of Cancer.
[4] Peter Devilee,et al. Leiden open variation database of the MUTYH gene , 2010, Human mutation.
[5] F. Tsai,et al. Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations. , 2010, Clinica chimica acta; international journal of clinical chemistry.
[6] J. Wesselink,et al. Simplifying the detection of MUTYH mutations by high resolution melting analysis , 2010, BMC Cancer.
[7] C. Ayuso,et al. Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene. , 2010, Investigative ophthalmology & visual science.
[8] H. Waterham,et al. Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients , 2010, Human mutation.
[9] C. Engel,et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. , 2009, Gastroenterology.
[10] J. Terdiman. MYH-associated disease: attenuated adenomatous polyposis of the colon is only part of the story. , 2009, Gastroenterology.
[11] E. Jordanova,et al. Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas , 2009, BMC Cancer.
[12] D. Petersen,et al. Assessing high‐resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments , 2009, Human mutation.
[13] Carl T Wittwer,et al. High‐resolution DNA melting analysis: advancements and limitations , 2009, Human mutation.
[14] P. Bolufer,et al. High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations , 2009, Breast Cancer Research and Treatment.
[15] A. Philippi,et al. Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta , 2009, BMC Genetics.
[16] C. Férec,et al. Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. , 2008, The Journal of molecular diagnostics : JMD.
[17] M. Poulsen,et al. MUTYH Associated Polyposis (MAP) , 2008, Current genomics.
[18] Karl V Voelkerding,et al. High resolution melting applications for clinical laboratory medicine. , 2008, Experimental and molecular pathology.
[19] A. Laurie,et al. Detection of factor VIII gene mutations by high-resolution melting analysis. , 2007, Clinical chemistry.
[20] C. Wittwer,et al. Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis. , 2007, Clinical chemistry.
[21] M. Tuchman,et al. Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system , 2007, Human mutation.
[22] Carl T Wittwer,et al. High-resolution DNA melting analysis for simple and efficient molecular diagnostics. , 2007, Pharmacogenomics.
[23] J. Cheadle,et al. MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing. , 2007, DNA repair.
[24] V. Timmerman,et al. Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. , 2007, Clinical chemistry.
[25] R. Houlston,et al. Colorectal cancer risk in monoallelic carriers of MYH variants. , 2006, American journal of human genetics.
[26] P. Chappuis,et al. Prevalence of MYH germline mutations in Swiss APC mutation‐negative polyposis patients , 2006, International journal of cancer.
[27] V. Gismondi,et al. Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer. , 2006, Clinical chemistry.
[28] J. Hopper,et al. Risk of Colorectal Cancer in Monoallelic and Biallelic Carriers of MYH Mutations: A Population-Based Case-Family Study , 2006, Cancer Epidemiology Biomarkers & Prevention.
[29] C. Wittwer,et al. Quantitative heteroduplex analysis for single nucleotide polymorphism genotyping. , 2005, Analytical biochemistry.
[30] K. Tamura,et al. Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. , 2005, Mutation research.
[31] Siân Jones,et al. MutYH (MYH) and colorectal cancer. , 2005, Biochemical Society transactions.
[32] N. Longo,et al. Validation of dye‐binding/high‐resolution thermal denaturation for the identification of mutations in the SLC22A5 gene , 2005, Human mutation.
[33] A. Tenesa,et al. Re: Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. , 2005, Journal of the National Cancer Institute.
[34] Carl T Wittwer,et al. Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis. , 2004, Clinical chemistry.
[35] A. Brehm,et al. Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas , 2004, Human mutation.
[36] L. Lipton,et al. Colorectal cancer and inherited mutations in base-excision repair. , 2004, The Lancet. Oncology.
[37] L. Lipton,et al. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. , 2004, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.
[38] Elaine Lyon,et al. Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons. , 2004, Clinical chemistry.
[39] J. Peto,et al. Comprehensive analysis of the contribution of germline MYH variation to early‐onset colorectal cancer , 2004, International journal of cancer.
[40] J. Eshleman,et al. Human MutY: gene structure, protein functions and interactions, and role in carcinogenesis , 2003, Cellular and Molecular Life Sciences CMLS.
[41] Carl T Wittwer,et al. High-resolution genotyping by amplicon melting analysis using LCGreen. , 2003, Clinical chemistry.
[42] Alison L. Livingston,et al. Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors , 2002, Nature Genetics.
[43] Robert Palais,et al. Simultaneous mutation scanning and genotyping by high-resolution DNA melting analysis , 2007, Nature Protocols.
[44] J. Knight,et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. , 2004, Journal of the National Cancer Institute.
[45] B Budowle,et al. Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE. , 1991, American journal of human genetics.