1999

1. Hecker, K.H., Taylor, P.D., Gjerde, D.T. (1999) Mutation detection by denaturing DNA chromatography using fluorescently labeled polymerase chain reaction products. Anal. Biochem. 272(2):156-164.

2. Escary, J-L., Lonie, L., Cox, R.D., Walter, J.M., and M. Lathrop. (1999) Screening strategy for mutation detection using denaturing high-performance liquid chromatography (DHPLC).International Biotechnology Laboratory 17(2):19.

3. DeFrancesco, L. (1999). Get the gel out of here. The Scientist 13, 21.

4. Kuklin, A., Munson, K., Taylor, P., and Gjerde, D. (1999). Isolation and analysis of amplified cDNA fragments during detection of unknown polymorphisms with temperature modulated heteroduplex chromatography. Mol. Biotechnol. 11, 257-261.

5. Jones, A.C., Austin, J., Hansen, N., Hoogendoorn, B., Oefner, P.J., Cheadle, J.P., O'Donovan, M.C. (1999) Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis.Clin. Chem. 45(8 Pt 1):1133-1140.

6. Skopek, T.R., Glaab, W.E., Monroe, J.J., Kort, K.L., Schaefer, W. (1999) Analysis of sequence alterations in a defined DNA region: comparison of temperature-modulated heteroduplex analysis and denaturing gradient gel electrophoresis. Mutat. Res. 430(1):13-21

7. Wagner, T., Stoppa-Lyonnet, D., Fleischmann, E., Muhr, D., Pagès, S., Sandberg, T., Caux, V., Möslinger, 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.

8. Choy, Y.S., Dabora, S.L., Hall, F., Ramesh, V., Niida, Y., Franz, D., Kasprzyk-Obara, J., Reeve, M.P., Kwiatkowski, D.J. (1999) Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. Ann. Hum. Genet. 63:383-391

9. 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.

10. 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)

11. 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)

12. Oefner, P., Stoppa-Lyonnet, D., Fleischmann, E., Muhr, D., Pagès, 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)

13. Yokomizo, A., Mai, M., Tindall, D.J., Cheng, L., Bostwick, D.G., Naito, S., Smith, D.I., Liu, W. (1999) Overexpression of the wild type p73 gene in human bladder cancer. Oncogene 18(8):1629-1633.

14. Yokomizo, A., Mai, M., Bostwick, D.G., Tindall, D.J., Qian, J., Cheng, L., Jenkins, R.B., Smith, D.I., Liu, W. (1999) Mutation and expression analysis of the p73 gene in prostate cancer. Prostate 39(2):94-100.

15. 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.

16. 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.

17. 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.

18. Whatley, S.D., Puy, H., Morgan, R.R., Robreau, A.M., Roberts, A.G., Nordmann, Y., Elder, G.H., Deybach, J.C. (1999) Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation. Am. J. Hum. Genet. 65(4):984-994.

19. Cargill, M., Altshuler, D., Ireland, J., et al. (1999) Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genet. 22(3):231-238.

20. Sun, C., Skaletsky, H., Birren, B., Devon, K., Tang, Z., Silber, S., Oates, R., Page, D.C. (1999) An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nature Genet. 23(4):429-432.

21. Sevenet, N., Lellouch-Tubiana, A., Schofield, D., Hoang-Xuan, K., Gessler, M., Birnbaum, D., Jeanpierre, C., Jouvet, A., Delattre, O. (1999) Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations. Hum. Mol. Genet. 8(13):2359-2368.

22. Wilgoss, A., Leigh, I.M., Barnes, M.R., Dopping-Hepenstal, P., Eady, R.A., Walter, J.M., Kennedy, C.T., Kelsell, D.P. (1999) Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. J. Invest. Dermatol. 113(6):1119-1122.

23. Bonner, R.M., Ballard, L.W. (1999) Considerations in adding mutation detection services to a sequencing core facility. J. Biomol. Tech. 10: 177-186.

24. Dianzani, I., Landegren, U., Camaschella, C., Ponzone, A., Piazza, A., Cotton, R.G.H. (1999) Fifth International Mutation Detection Workshop, May 13-16, 1999, Vicoforte, Italy. Hum. Mutat. 14(6):451-453.

25. Jacobsen, N.J., Lyons, I., Hoogendoorn, B., Burge, S., Kwok, P.Y., O'Donovan, M.C., Craddock, N., Owen, M.J. (1999) ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Hum Mol Genet Sep;8(9):1631-6.

26. Jacobsen, N.J., Franks, E.K., Owen, M.J., and Craddock, N.J. (1999). Mutational analysis of phospholipase A2A: a positional candidate susceptibility gene for bipolar disorder. Mol. Psychiatry 4, 274-279.

27. Schrijver, I., Liu, W., Brenn, T., Furthmayr, H., and Francke, U. (1999). Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am. J. Hum. Genet. 65, 1007-1020.

28. 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.

29. 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)

30. 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)

31. 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)

32. 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.

33. 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.

34. 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.

35. Choy, Y.S., Dabora, S.L., Hall, F., Ramesh, V., Niida, Y., Franz, D., Kasprzyk-Obara, J., Reeve, M.P., Kwiatkowski, D.J. (1999) Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. Ann. Hum. Genet. 63:383-391.

36. Giordano, M., Oefner, P.J., Underhill, P.A., Cavalli-Sforza, L.L., Tosi, R., Richiardi, P.M. (1999) Identification by denaturing high-performance liquid chromatography of numerous polymorphisms in a candidate region for multiple sclerosis susceptibility. Genomics 56(3):247-253.

37. Cho, R.J., Mindrinos, M., Richards, D.R., Sapolsky, R.J., Anderson, M., Drenkard, E., Dewdnay, J., Reuber, L., Stammers, M., Federspiel, N., Theologis, A., Yang, W.-H., Hubbell, E., Lashkari, D., Lemieux, B., Dean, C., Lipshutz, R., Ausubel, F.M., Davis, R.W., Oefner, P.J. (1999) Genome-wide mapping with biallelic markers in Arabidopsis thaliana. Nature Genet. 23:203-207.

38. Sun, C., Skaletsky, H., Birren, B., Devon, K., Tang, Z., Silber, S., Oates, R., Page, D.C. (1999) An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nature Genet. 23(4):429-432.

39. Deka, R., Su, B., Underhill, P., Saha, N., McGarvey, S.T., Chou, J., Oefner, P., Shriver, M.D., Chakraborty, R., Martinson, J. Jin, L. (1999) Polynesian origins: new insights from the Y-chromosome. Am. J. Hum. Genet. 65 [Suppl.]:A83 (Abstract).

40. Su, B., Xiao, J., Underhill, P., Deka, R., Zhang, W., et al. (1999) Y chromosome evidence for a northward migration of modern humans into Eastern Asia during the last Ice Age. Am. J. Hum. Genet. 65:1718-1724.

41. Hoogendoorn, B., Owen, M.J., Oefner, P.J., Williams, N., Austin, J., O'Donovan, M. (1999) Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography. Hum. Genet. 104(1):89-93.

42. Hecker, K.H., Turpie, B., Kuklin, A. (1999) Optimization of cloning efficacy by pre-cloning DNA fragment analysis. BioTechniques 26(2):216-222.

43. Kuklin, A., Davis, A.P., Hecker, K. H., Gjerde, D.T., Taylor, P.D. (1999) A novel technique for rapid automated genotyping of DNA polymorphisms in the mouse. Mol. Cell. Probes 13(3):239-42

44. Huber, C.G., Krajete, A. (1999) Analysis of Nucleic Acids by capillary ion-pair reversed-phase HPLC coupled to negative-ion electrospray ionization mass spectrometry. Anal. Chem. 71:3730-3739.

45. Hayward, A.L., Hinojos, C.A., Nurowska, B., Hewetson, A., Sabatini, S., Oefner, P.J., Doris, P.A. (1999) Altered sodium pump alpha and gamma subunit gene expression in nephron segments from hypertensive rats. J. Hypertens. 17(8):1081-1087.

46. Tanaka, A., Lindor, K., Gish, R., Batts, K., Shiratori, Y., Omata, M., Nelson, J.L., Ansari, A., Coppel, R., Newsome, M., Gershwin, M.E. (1999) Fetal microchimerism alone does not contribute to the induction of primary biliary cirrhosis. Hepatology 30(4):833-838.

47. Jin, L., Underhill, P.A., Doctor, V., Davis, R.W., Shen, P., Cavalli-Sforza, L.L., and Oefner, P.J. (1999). Distribution of haplotypes from a chromosome 21 region distinguishes multiple prehistoric human migrations. Proc. Natl. Acad. Sci. 96, 3796-3800.

48. Schwartz DI, Lindor NM, Walsh-Vockley C, Roche PC, Mai M, Smith DI, Liu W, Couch FJ. (1999) p73 mutations are not detected in sporadic and hereditary breast cancer. Breast Cancer Res Treat 1999 Nov;58(1):25-9

49. Okano, M., Bell, D.W., Haber, D.A., Li, E. (1999) DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 99:247-257.

50. Morita R, Miyazaki E, Shah PU, Castroviejo IP, Delgado-Escueta AV, Yamakawa K. (1999). Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24. Epilepsy Res 37:151-158.