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DHPLC Publication List (sorted by categories)

The DHPLC publication list is also available sorted by publication year

small bullet The Method small bullet Single Nucleotide Extension Sequencing and DHPLC
small bullet Sensitivity and Specificity small bullet DNA/RNA Purification
small bullet Mutational Analysis of Candidate Genes small bullet Mass Spectrometry and DHPLC
small bullet BRCA1 & BRCA2 small bullet Quantitation of Gene Expression by DHPLC
small bullet Tuberous Sclerosis small bullet Related Papers
small bullet Mapping and Positional Cloning small bullet Miscellaneous
small bullet Reverse Genetics small bullet Molecular Fingerprinting of Microorganisms
small bullet Human Evolution, Y-Chromosome small bullet DNA Methylation Analysis
   

The references below are hyper-linked to their abstract via PubMed or, whenever possible, directly to the journal. (Access to journals may require membership or subscription).

Please, forward new citations for inclusion in this list to oefner#genome.stanford.edu

 
BRCA1 & BRCA2
  1. Wagner, T., Muhr, D., Hirtenlehner, K., Möslinger, R., Underhill, P., Scheiner, O., Kubista, E., Oefner, P.J. (1997) Founding BRCA1 and 2 mutations in Austrian HBOC families and individuals of the 5 continents. Am. J. Hum. Genet. 61 [Suppl.]:A86. (Abstract)

  2. Wagner, T.M.U., Möslinger, R.A., Muhr, D., et al. (1998) BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. Int. J. Cancer 77(3):354-360.

  3. Wagner, T., Hirtenlehner, K., Shen, P., Moeslinger, R., et al. (1998) High frequency of simple sequence variation in BRCA2: Analysis of 70 breast cancer families and 95 control individuals of world wide populations. Am. J. Hum. Genet. 63 [Suppl.]:A90.

  4. Wagner, T., Stoppa-Lyonnet, D., Fleischmann, E., Muhr, D., Pagès, S., Sandberg, T., Caux, V., Moeslinger, R., Langbauer, G., Borg, A. and Oefner, P. (1999) Denaturing high performance liquid chromatography (DHPLC) detects reliably BRCA1 and BRCA2 mutations. Genomics 62:369-376.

  5. Wagner, T., Moeslinger, R., Fleischmann, E., Muhr, D., Hareter, M., Kofler, P., Austrian HBOC Group, Helbich, T., Zielinski, C., Oefner, P. (1999) BRCA1 Analysis by DHPLC in 272 Austrian Breast Cancer only and Breast and Ovarian Cancer Families. Am. J. Hum. Genet. 65 [Suppl.]:A328. (Abstract)

  6. Moeslinger, R., Wagner, T., Langbauer, G., Austrian HBOC Group, Auterith, A., Friedmann, A., Zielinski, C., Seifert, M., Oefner, P. (1999) Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations. Am. J. Hum. Genet. 65 [Suppl.]:A386. (Abstract)

  7. Oefner, P., Stoppa-Lyonnet, D., Fleischmann, E., Muhr, D., Pages, S., Sandberg, T., Caux, V., Moeslinger, R., Langbauer, G., Borg, A., Wagner, T. (1999) Denaturing High Performance Liquid Chromatography (DHPLC) Detects BRCA1 and BRCA2 Mutations with High Sensitivity. Am. J. Hum. Genet. 65 [Suppl.]:A416 (Abstract)

  8. Gross, E., Arnold, N., Goette, J., Schwarz-Boeger, U., Kiechle, M. (1999) A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC. Hum. Genet. 105(1-2):72-78.

  9. Arnold, N., Gross, E., Schwarz-Boeger, U., Pfisterer, J., Jonat, W., and Kiechle, M. (1999) A highly sensitive, fast and economical technique for mutation analysis in hereditary breast and ovarian cancers. Hum. Mutat. 14(4):333-339.

  10. Wagner, T.M.U., Hirtenlehner K., Shen, P., et. al. (1999) Global sequence diversity of BRCA2: Analysis of 71 breast cancer families and 95 control individuals of worldwide populations. Hum. Mol. Gen. 8[3], 413-423.

  11. Gross, E., Arnold, N., Pfeifer, K., Bandick, K., Kiechle, M. (2000) Identification of specific BRCA1 and BRCA2 variants by DHPLC. Hum. Mutat. 16(4):345-353.

  12. Wagner, T.M., Moslinger, R., Langbauer, G., Ahner, R., Fleischmann, E., Auterith, A., Friedmann, A., Helbich, T., Zielinski, C., Pittermann, E., Seifert, M., Oefner, P. (2000) Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations. Br. J. Cancer 82:1249-1253.

  13. Wagner, T., Moeslinger, R., Muhr, D., Richards, D., Schreiber, M., Fleischmann, E., Austrian Hereditary Breast and Ovarian Cancer Group, Langbauer, G., Zielinski, C., Jin, L., Oefner, P. (2000) BRCA1 and BRCA2 analysis of 268 HBOC and HBC families by DHPLC. Am. J. Hum. Genet. 67 [Suppl. 2], 87.

  14. Shiri-Sverdlov, R., Oefner, P., Gershoni-Baruch, R., Green, L., Hofstra, R.M.W., Wagner, T., Friedman, E. (2000) Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer. Am. J. Hum. Genet. 67 [Suppl. 2], 88.

  15. Moeslinger, R., Wagner, T., Langbauer, G., Austrian HBOC Group, Fleischmann, E., Autherith, A., Friedmann, A., Helbich, T., Oefner, P. (2000) Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations. Am. J. Hum. Genet. 67 [Suppl. 2], 202.

  16. Kiechle, M., Gross, E., Schwarz-Boeger, U., Pfisterer, J., Jonat, W., Gerber, W.D., Albacht, B., Fischer, B., Schlegelberger, B., Arnold, N. (2000). Ten novel BRCA1 and BRCA2 mutations in breast and/or ovarian cancer families from northern Germany. Hum. Mutat. 16(6):529-530.

  17. Shiri-Sverdlov, R., Oefner, P., Green, L., Baruch, R.G., Wagner, T., Kruglikova, A., Haitchick, S., Hofstra, R.M., Papa, M.Z., Mulder, I., Rizel, S., Bar Sade, R.B., Dagan, E., Abdeen, Z., Goldman, B., Friedman, E. (2000) Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer. Hum. Mutat. 16(6):491-501.

  18. Reifenberger J, Arnold N, Kiechle M, Reifenberger G, Hauschild A. (2001) Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. J Invest Dermatol Mar;116(3):472-474

  19. Loman N, Johannsson O, Kristoffersson U, Olsson H, Borg A. (2001) Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. J Natl Cancer Inst. Aug 15;93(16):1215-23.

  20. Arver B, Borg A, Lindblom A. (2001) First BRCA1 and BRCA2 gene testing implemented in the health care system of Stockholm. Genet Test. Spring;5(1):1-8.

  21. Kroiss, R., Wagner, T., Muhr, D., Fleischmann, E., Korn, V., Helbich, T., Zielinski, C., Kubista, E., Oefner, P. (2001) BRCA1 and BRCA2 analysis in 523 Austrian HPOC and HBC families. Am. J. Hum. Genet. 69 [Suppl.]

  22. Garcia-Closas M, Egan KM, Abruzzo J, Newcomb PA, Titus-Ernstoff L, Franklin T, Bender PK, Beck JC, Le Marchand L, Lum A, Alavanja M, Hayes RB, Rutter J, Buetow K, Brinton LA, Rothman N. (2001). Collection of genomic DNA from adults in epidemiological studies by buccal cytobrush and mouthwash. Cancer Epidemiol. Biomarkers Prev. 10, 687-696.

  23. Andrulis IL, Anton-Culver H, Beck J, Bove B, Boyd J, Buys S, Godwin AK, Hopper JL, Li F, Neuhausen SL, Ozcelik H, Peel D, Santella RM, Southey MC, Van Orsouw NJ, Venter DJ, Vijg J, Whittemore AS. (2002) Comparison of DNA- and RNA-Based Methods for Detection of Truncating BRCA1 Mutations. Hum Mutat. Jul;20(1):65-73.

  24. Real FX, Malats N, Lesca G, Porta M, Chopin S, Lenoir GM, Sinilnikova O; PANKRAS II Study Group. (2002). Family history of cancer and germline BRCA2 mutations in sporadic exocrine pancreatic cancer. Gut 50, 653-657.

  25. Kang HC, Kim IJ, Park JH, Kwon HJ, Won YJ, Heo SC, Lee SY, Kim KH, Shin Y, Noh DY, Yang DH, Choe KJ, Lee BH, King SB, Park JG. (2002) Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families. Hum Mutat.Sep;20(3):235.

  26. Sevilla C, Moatti JP, Julian-Reynier C, Eisinger F, Stoppa-Lyonnet D, Bressac-De Paillerets B, Sobol H. (2002) Testing for BRCA1 mutations: a cost-effectiveness analysis. Eur J Hum Genet. Oct;10(10):599-606.

  27. Pfeiffer RM, Bura E, Smith A, Rutter JL. (2002). Two approaches to mutation detection based on functional data. Stat Med 21(22):3447-3464.

  28. Arnold N, Peper H, Bandick K, Kreikemeier M, Karow D, Teegen B, Jonat W. (2002) Establishing a control population to screen for the occurrence of nineteen unclassified variants in the BRCA1 gene by denaturing high-performance liquid chromatography. J Chromatogr B Analyt Technol Biomed Life Sci. Dec 25;782(1-2):99-104.

  29. Muhr D, Wagner T, Oefner PJ. (2002) Polymerase chain reaction fidelity and denaturing high-performance liquid chromatography. J Chromatogr B Analyt Technol Biomed Life Sci. Dec 25;782(1-2):105-10.

  30. Boettger MB, Sergi C, Meyer P. (2003). BRCA1/2 mutation screening and LOH analysis of lung adenocarcinoma tissue in a multiple-cancer patient with a strong family history of breast cancer. J Carcinog. 2003 Oct 2;2(1):5.

  31. Rajkumar T, Soumittra N, Nancy NK, Swaminathan R, Sridevi V, Shanta V. (2003). BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. Asian Pac J Cancer Prev. 2003 Jul-Sep;4(3):203-8.

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