Helix
Citations
View the following DHPLC citations by subject matter.
To open or print a PDF version of the citations, use Adobe Acrobat Reader.
Citations (rev 3, current as of August, 2002)
Descriptions of the Technology
Hayward-Lester, A., Chilton, B.S., Underhill, P.A., Oefner, P.J., and Doris, P.A. Quantification of specific nucleic acids, regulated RNA processing and genomic polymorphisms using reversed-phase HPLC. In: Gene Quantification. F. Ferre, Ed. Birkhauser Verlag, Basel, Switzerland (1997) 44-77.
Huber, C.G., and Berti, N. Detection of partial denaturation in AT-rich DNA fragments by ion-pair reversed-phase chromatography. Analytical Chemistry 68 (1996) 2959-2965.
Huber, C.G., Oefner, P.J., and Bonn, G.K. Rapid and accurate sizing of DNA fragments by ion-pair chromatography on alkylated nonporous poly(styrene-divinylbenzene). Analytical Chemistry 67 (1995), 578-585.
Huber, C.G., Oefner, P.J., and Bonn, G.K. Rapid analysis of biopolymers on modified non-porous poly(styrene-divinylbenzene) particles. J. Chromatographia 37 (1993) 653-658.
Huber, C.G., Oefner, P.J., Preuss, E., and Bonn, G.K. High-resolution liquid chromatography of DNA fragments on non-porous poly(styrene-divinylbenzene) particles. Nucleic Acids Research 21 (1993) 1061-1066.
Oefner, P.J., Huber, C.G., Umlauft, F., Berti, G.N., Stimpfl, E., and Bonn, G.K. High-resolution liquid chromatography of fluorescent dye-labeled nucleic acids. Analytical Biochemistry 223 (1994) 39-46.
Oefner, P.J. and Underhill, P.A. Comparative DNA sequence by denaturing high performance liquid chromatography (DHPLC). American Journal of Human Genetics 57 (1995) A266.
Xiao, W., Oefner, P.J. Denaturing High-Performance Liquid Chromatography: A Review. Human Mutation 17 (2001) 439-474.
Xiao, W., Stern, D., Jain, M., Huber, C.G., Oefner, P.J. Multiplex Capillary Denaturing High-Performance Liquid Chromatography with Laser-Induced Fluorescence Detection. BioTechniques 30 (2001) 1332-1338.
Polymorphisms and Mutation Screening
Cargill, M., Altshuler, D., Ireland, J., et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genetics 22 (1999) 231-238.
Escary, J-L., Lonie, L., Cox, R.D., Walter, J.M., and Lathrop, M. Screening strategy for mutation detection using denaturing high-performance liquid chromatography (DHPLC). International Biotechnology Laboratory 17 [2] (1999) 19.
O'Donovan, M.C., Oefner, P.J., Roberts, S.C., Austin, J. Guy, C., Hoogendoorn, B., Sommer, S., and McGuffin, P. Blind analysis of denaturing High-Performance Liquid Chromatography as a tool for mutation detection. Genomics 52 (1998) 44-49. Pitarque, M., von Richter, O., Oke, B., Berkkan, H., Oscarson, M., Ingelman-Sundberg, M. Identification of a single nucleotide polymorphism in the TATA box of the CYP2A6 gene: impairment of its promoter activity. Biochemistry Biophys. Res. Commun. 284 [2] (2001) 455-460.
Schaeffeler, E., Lang, T., Zanger, U.M., Eichelbaum, M., Schwab, M. High-Throughput Genotyping of Thiopurine S-Methlyltransferase by Denaturing HPLC. Clinical Chemistry 47 [3] (2001) 548-555.
Schriml, L.M., Peterson, R.J., Gerrard, B., Dean, M. Use of Denaturing HPLC to Map Human and Murine Genes and to Validate Single-Nucleotide Polymorphisms. BioTechniques 28 (2000) 740-745.
Underhill, P.A., Jin, L., Lin, A.A., Mehdi, S.A., Jenkins, T., Vollrath, D., Davis, R.W., Oefner, P.J., and Cavalli-Sforza, L.L. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Research 7 (1997) 996-1005.
Underhill, P.A., Jin, L., Zemans, R., Oefner, P.J., and Cavalli-Sforza, L.L. A pre-Columbian Y chromosome-specific transition and its implications for human evolutionary history. Proceedings of the National Academy of Sciences USA 93 (1996) 196-200.
Oligonucleotide Analysis and Purification
Huber, C.G., Oefner, P.J., and Bonn, G.K. High-resolution liquid chromatography of oligonucleotides on non-porous alkylated styrene-divinylbenzene copolymers. Analytical Biochemistry 212 (1993) 351-358.
Huber, C.G., Stimpfl, E., Oefner, P.J., and Bonn, G.K. A comparison of micropellicular anion exchange and reversed-phase stationary phases for HPLC analysis of oligonucleotides. LC-GC 14 [2] (1996) 114-127.
Genotyping
Hoogendoorn, B., Owen, M.J., Oefner, P.J., Williams, N., Austin, J., and O'Donovan, M. Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography. Human Genetics 104 (1999) 89-93. Pissard, S., Huyhh, L.T., Martin, J., Goossens, M. HFE Genotyping by amplification refractory mutation system-denaturing HPLC. Clinical Chemistry 48 [5] (2002) 769-772.
Quantitative RT-PCR
Bodine, P.V.N., Green, J., Harris, H.A., Bhat, R.A., Stein, G.S., Lian, J.B., and Komm, B.S. Functional properties of a conditionally phenotypic, estrogen-responsive, human osteoblast cell line. Journal of Cellular Biochemistry. 65 (1997) 368-387.
Doris, P.A., Chilton, B.S., Oefner, P.J., and Hayward-Lester, A. Quantitative analysis of gene expression by ion-pair high-performance liquid chromatography. Journal of Chromatography 806 (1998) 47-60.
Hayward-Lester A., Oefner, P.J., and Doris, P.A. Rapid quantification of gene expression by competitive RT-PCR and ion-pair reversed-phase HPLC. BioTechniques 20 (1996) 250-257.
Hayward-Lester, A. , Oefner, P. J., and Doris, P.A. An update on rapid quantification of gene expression by competitive RT-PCR and ion-pair-reversed-phase HPLC, In: The PCR Technique: Quantitative PCR. J. Larrick, Ed. Eaton Press (1997) 125-139.
Hayward-Lester, A., Oefner, P.J., Kainer D., Hinojos, C.A., and Doris, P.A. Kinetics of competitive RT-PCR, In: PCR Methods Manual. M. Innis, D. Gelfand and J. Sninsky, Eds.. Academic Press, San Diego, (1998) 231-261.
Hayward-Lester, A., Oefner, P.J., Sabatini, S., Kainer, D.B., Hinojos, C.A., and Doris, P.A. Modeling and analysis of competitive RT-PCR. Nucleic Acids Research 26 (1998) 2511-2518.
Hayward-Lester, A., Oefner, P.J., Sabatini, S., and Doris, P.A. Accurate and absolute measurement of gene expression by single tube RT-PCR and HPLC, Genome Research, 5 (1995) 494-499.
Robinson, C.A., Hayward-Lester, A., Hewetson, A., Oefner, P.J., Doris, P.A., and Chilton, B.S. Quantification of alternatively spliced RUSH mRNA isoforms by QRT-PCR and IP-RP-HPLC analysis: a new approach to measuring regulated splicing efficiency. Gene 198 (1997) 1-4
Cancer Research
Gross, E., Arnold, N., Goette, J., Schwarz-Boeger, U. and Kiechle M. A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC. Human Genetics 105 (1999) 72-78.
Laurent-Puig, P., Legoix, P., Bluteau, O., Jacques, B., Franco, D., Binot, F., Monges, G., Thomas, G., Bioulac-Sage, P., Zucman-Rossi, J. Genetic alterations associated with hepatocellular carcinomas define distinct pathwasy of hepatocarcinogenesis. Gastroenterology 120 [7] (2000) 1763-1773.
Lee, J.H., et al,. A novel germ lLine juxtamembrane Met mutation in human gastric cancer. Oncogene 19 (2000) 4947-4953.
Liu, W., James, C.D., Frederick, L., Aderete, B.E., and Jenkins R.B. PTEN/MMAC1 mutations and EGFR amplification in glioblastomas. Cancer Research 57 (1997) 5254-5257.
Liu, W., Smith, D.I., Rechtzigel, K.J., Thibodeau, S.N., and James C.D. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Research 26 (1998) 1396-1400.
Mai, M., Yokomizo, A., Qian, C., Yang, P., Tindall, D.J., Smith, D.I., and Liu, W. Activation of p73 silent allele in lung cancer. Cancer Research 58 (1998) 2347-2349.
Petrij-Bosch, A., Peelen, T. van Vliet, M. van Eijk, R., Olmer, R., Drusedau, M., Hogervorst, F.B.L., Hageman, S., Arts, P.J.W., Ligtenberg, M.J.L., Meijers-Heijboer, H., Klijn, J.G.M., Vasen, H.F.A., Cornelisse, C.J., van't Veer, L.J., Bakker, E., van Ommen, G.-J.B., and Devilee, P. BRCA1 geneomic dletions are major founder mutation in Dutch breast cancer patients. Nature Genetics 17 (1997) 341-345.
Yokomizo, A., Tindall, D.J., Drabkin, H., Gemmill, R., Franklin, W., Yang, P., Sugio, Y., Smith, D.I., and Liu W. PTEN/MMAC1 mutations identified in small cell, but not in non-small cell lung cancers. Oncogene 17 (1998).475-479.
Wagner, T.M.U., Hirtenlehner K., Shen, P., et. al. Global sequence diversity of BRCA2: Analysis of 71 breast cancer families and 95 control individuals of worldwide populations. Human Molecular Genetics 8 [3] (1999) 413-423.
Wagner, T.M.U., Moslinger, R.A., Muhr, D., et. al. BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. International Journal of Cancer 77 (1998) 354-360.
Wagner, T.M.U., Muhr, D. Hirtenlehner K., Moslinger, R.A., Underhill, P., Scheiner, O., Kubista,E., and Oefner, P.J. Founding BRCA 1 and 2 mutations in Austrian HBOC families and individuals of the 5 continents. American Journal of Human Genetics 57 (1997) A477.
Inherited Disorders
Bernstein, P.S., Tammur, J., Singh, N., Hutchinson, A., Dixon, M., Pappas, C.M., Zabriskie, N.A., Zhang, K., Petrukhin, K., Leppert, M., Allikmets, R. Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. Invest. Ophthalmol. Vis. Sci. 42 [13] (2001) 3331-3336.
Giordano, M., Oefner, P.J., Underhill, P.A., Sforza, L.C., Tosi, R., and Richiardi, P.M. Genomics identification by DHPLC of numerous polymorphisms in a candidate region for multiple sclerosis susceptibility, Genomics 56 [3] (1999) 247-253.
Kirschner, L.S., Sandrini, F., Monbo, J., Lin, J.P., Carney, J.A., Stratakis, C.A. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex. Human Molecular Genetics 9 [20] (2000) 3037-3046.
Kirschner, L.S., Carney, J.A., Pack, S.D., Taymans, S.E., Giatzakis, C., Cho, Y.S., Stratakis, C.A. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat. Genet. 26 [1] (2000) 89-92.
Liu, W., Oefner, P.J., Qian, C., Odom, R.S., and Francke, U. Denaturing HPLC-Identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan Syndrome and related connective tissue disorders. Genetic Testing 1 [4] (1997/98) 237-242.
Ophoff, R.A., Terwindt, G.M., Vergouwe, M.N., van Eijk, R., Iefnerm P.J., Hiffman, S.M.G., Lamerdin, J.E., Mohrenweiser, H.W., Bulman, D.WE., Ferrari, M., Haan, J., Lindout,D., van Ommen, G.-J.B., Hofker, M.H., Ferrari, M.D. and Frants, R.R. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87 (1996) 543-552.
|
