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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

Mutational Analysis of Candidate Genes
  1. Ophoff, R.A., Terwindt, G.M., Vergouwe, M.N., et al. (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87(3):543-552.

  2. 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)

  3. Liu, W., Oefner, P., Qian, C., Odom, R., Francke, U. (1997) Denaturing HPLC identified novel FBN1 mutations, polymorphisms and sequence variants in Marfan syndrome patients. Am. J. Hum. Genet. 61 [Suppl.]:A223. (Abstract)

  4. Liu, W., James, C.D., Frederick, L., Aderete, B.E., Jenkins, R.B. (1997) PTEN/MMAC1 mutations and EGFR amplification in glioblastomas. Cancer Res. 57(23):5254-5257.

  5. Ophoff, R.A., Terwindt, G.M., Vergouwe, M.N., Frants, R.R., Ferrari, M.D. (1997) Involvement of a Ca2+ channel gene in familial hemiplegic migraine and migraine with and without aura. Headache 37(8):479-485

  6. Yokomizo, A., Tindall, D.J., Drabkin, H., Gemmill, R., Franklin, W., Yang, P., Sugio, Y., Smith, D.I., Liu, W. (1998) PTEN/MMAC1 mutations identified in small cell, but not in non-small cell lung cancers. Oncogene 17(4):475-479.

  7. Liu, W., Smith, D.I., Rechtzigel, K.J.,Thibodeau, S.N. and James, C.D. (1998) Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucl. Acids Res. 26(6):1396-1400.

  8. Mai, M., Yokomizo, A., Qian, C., Yang, P., Tindall, D.J., Smith, D.I., and W. Liu. (1998) Activation of p73 silent allele in lung cancer. Cancer Res. 58(11):2347-2349.

  9. Liu, W.O., Oefner, P.J., Qian, C., Odom, R.S., Francke, U. (1998) Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet. Test. 1(4):237-242.

  10. Wagner, T.M.U., Moslinger, 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.

  11. 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.

  12. Huang, J.H., Oefner, P.J., Adi, V., Ratnam, K., Ruoss, S.J., Trako, E., Kao, P.N. (1998) Analyses of the NRAMP1 and IFN- g Receptor 1 genes in women with MAI pulmonary disease. Am. J. Respir. Crit. Care Med. 157(2):377-381.

  13. Martin, M.P., Dean, M., Smith, M.W., Winkler, C., Gerrard, B., Michael, N.L., Lee, B., Doms, R.W., Margolick, J., Buchbinder, S., Goedert, J.J., O'Brien, T.R., Hilgartner, M.W., Vlahov, D., O'Brien, S.J., Carrington, M. (1998) Genetic acceleration of AIDS progression by a promoter variant of CCR5. Science 282:1907-1911.

  14. 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.

  15. 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)

  16. 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)

  17. 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)

  18. 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.

  19. 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.

  20. 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.

  21. 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.

  22. 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.

  23. 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.

  24. 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.

  25. 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.

  26. 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.

  27. 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.

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

  29. 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.

  30. 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.

  31. 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.

  32. 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.

  33. 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

  34. 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.

  35. 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.

  36. 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.

  37. 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.

  38. Austin, J., Hoogendoorn, B., Buckland, P., Speight, G., Cardno, A., Bowen, T., Williams, N., Spurlock, G., Sanders, R., Jones, L., Murphy, K., McCarthy, G., McGuffin, P., Owen, M.J., O'Donovan, M.C. (2000) Comparative sequencing of the proneurotensin gene and association studies in schizophrenia. Mol. Psychiatry 5(2):208-12.

  39. Jogi, A., Abel, F., Sjoberg, R.M., Toftgard, R., Zaphiropoulos, P.G., Pahlman, S., Martinsson, T., Axelson, H. (2000) Patched 2, located in 1p32-34, is not mutated in high stage neuroblastoma tumors. Int. J. Oncol. 16(5):943-949.

  40. Graves, P.E., Kabesch, M., Halonen, M., Holberg, C.J., Baldini, M., Fritzsch, C., Weiland, S.K., Erickson, R.P., von Mutius, E., Martinez, F.D. (2000) A cluster of seven tightly linked polymorphisms in the IL-13 gene is associated with total serum IgE levels in three populations of white children. Allergy Clin. Immunol. 105(3):506-513.

  41. Eklund, A.C., Belchak, M.M., Lapidos, K., Raha-Chowdhury, R., Ober, C. (2000) Polymorphisms in the HLA-linked olfactory receptor genes in the Hutterites. Hum. Immunol. 6(7):711-717.

  42. Speight, G., Turic, D., Austin, J., Hoogendoorn, B., Cardno, A.G., Jones, L., Murphy, K.C., Sanders, R., McCarthy, G., Jones, I., McCandless, F., McGuffin, P., Craddock, N., Owen, M.J., Buckland, P., O'Donovan, M.C. (2000) Comparative sequencing and association studies of aromatic L-amino acid decarboxylase in schizophrenia and bipolar disorder. Mol. Psychiatry 5(3):327-331.

  43. Nickerson, M.L., Weirich, G., Zbar, B., Schmidt, L.S. (2000) Signature-based analysis of MET proto-oncogene mutations using DHPLC. Hum. Mutat. 16(1):68-76.

  44. Deng, Z., Morse, J.H., Slager, S.L., Cuervo, N., Moore, K.J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, S.G., Barst, R.J., Hodge, S.E., Knowles, J.A. (2000) Familial Primary Pulmonary Hypertension (Gene PPH1) Is Caused by Mutations in the Bone Morphogenetic Protein Receptor-II Gene. Am. J. Hum. Genet. 67(3):737-744.

  45. Jones, A.C., Sampson, J.R., Hoogendoorn, B., Cohen, D., Cheadle, J.P. (2000) Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Hum. Genet. 106(6):663-668.

  46. Santer, R., Rischewski, J., Block, G., Kinner, M., Wendel, U., Schaub, J., Schneppenheim, R. (2000) Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. Hum. Mutat. 16(2):177.

  47. Giunta, C., Steinmann, B. (2000) Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. Hum. Mutat. 16(2):176-177.

  48. Su, Z., Zhang, S., Hou, Y., Zhang, L., Liao, L., Xia, Q., Xiao, C., Meng, H., Yan, Y. (2000) A preliminary study of single nucleotide polymorphisms of lipoprotein lipase gene in coronary atherosclerotic heart disease [Article in Chinese]. Chung Hua Hsueh Chuan Hsueh Tsa Chih 17(3):157-160.

  49. Kaler, S.G., Devaney, J.M., Pettit, E.L., Kirshman, R., Marino, M.A. (2000) Novel method for molecular detection of the two common hereditary hemochromatosis mutations. Genet. Test 4(2):125-129.

  50. Weigell-Weber, M., Schinzel, A., Hergersberg, M. (2000) Mutational analysis of the connexin-26 gene in patients with autosomal recessive inherited hearing loss. Schweiz Med. Wochenschr. 130:1072-1077 (in German).

  51. van Den Bosch, B.J., de Coo, R.F., Scholte, H.R., Nijland, J.G., van Den Bogaard, R., de Visser, M., de Die-Smulders, C.E., Smeets, H.J. (2000) Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucleic Acids Res. 28(20):E89.

  52. Lam, C.W., Sin, S.Y., Lau, E.T., Lam, Y.Y., Poon, P., Tong, S.F. (2000) Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography. Prenat. Diagn. 20(9):765-768.

  53. Weigell-Weber, M., Schinzel, A., Hergersberg, M. (2000) Hereditary hearing loss due to mutations in the connexin-26 gene [Article in German). Schweiz Med. Wochenschr. 130(29-30):1072-1077.

  54. 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.

  55. 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.

  56. Thorstenson, Y.R., Oefner, P.J., Goss, V., Davis, R.W., Gatti, R.A., Chu, G. (2000) Comprehensive mutational analysis of the ATM gene by denaturing HPLC. Am. J. Hum. Genet. 67 [Suppl. 2], 100.

  57. 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.

  58. Pawar, S., Ciocci, S., Markowitz, A., Jhanwar, S., Ellis, N. (2000) Denaturing high performance liquid chromatography (DHPLC) used in the detection of mutation in hMLH1 and hMSH2 genes. Am. J. Hum. Genet. 67 [Suppl. 2], 98.

  59. Bercovich, D., Lev-Lehman, E., Beaudet, A.L. (2000) Denaturing high performance liquid chromatography (DHPLC) used in the detection of mutations and polymorphisms in the UBE3A gene. Am. J. Hum. Genet. 67 [Suppl. 2], 246.

  60. Smeets, H., Van den Bosch, B., Nijland, J., Scholte, H., DeDie, C., Van den Bogaard, R., De Visser, M., De Coo, I. (2000) Mutation analysis of the entire mitochondrial DNA using denaturing high performance liquid chromatography (DHPLC). Am. J. Hum. Genet. 67 [Suppl. 2], 249.

  61. McAndrew, P.E., Devaney, J.M., Pettit, E.L., Schwartz, E.I., Stephan, D.A., Prior, T.W., Marino, M.A. (2000) Detection of mutations and heteroplasmy in the mitochondrial genome using denaturing high performance liquid chromatography. Am. J. Hum. Genet. 67 [Suppl. 2], 359.

  62. Lin, T., Suchy, S.F., Nussbaum, R.L. (2000) Lowe syndrome carrier testing by denaturing HPLC. Am. J. Hum. Genet. 67 [Suppl. 2], 402.

  63. Zhou, Z., Pace, R.G., Friedman, K.J., Zariwala, M., Noone, P.G., Knowles, M.R., Silverman, L.M. (2000) Rapid detection of rare mutations in multiple genetic disorders using DHPLC. Am. J. Hum. Genet. 67 [Suppl. 2], 245.

  64. Van Heerde, W.L., Kenis, H., Lux, P., Hamulyak, K., Wi, D., Lavergne, J.M.L.S., Reutelingsperger, C.P.M. (2000) Determination of the factor V Leiden (G1691A) and prothrombin (G20210A) mutations by using a DHPLC system. Am. J. Hum. Genet. 67 [Suppl. 2], 245.

  65. Harvey, J.F., Haynes, S.P., Eccles, D.M. (2000) DHPLC analysis of HPNCC: a rapid sensitive exon screen of hMLH1 and hMSH2. Am. J. Hum. Genet. 67 [Suppl. 2], 241.

  66. Bolino, A., Lonie, L., Zimmer, M., Boerkoel, C.F., Monaco, A.P., Lupski, J.R. (2000) DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B. Am. J. Hum. Genet. 67 [Suppl.2], 372.

  67. Buyse, I.M., Fang, P., Hoon, K., Amir, R., Zoghbi, H., Roa, B.B. (2000) RETT syndrome diagnostic testing by DHPLC and sequence analysis of the MECP2 gene. Am. J. Hum. Genet. 67 [Suppl. 2], 393.

  68. Devaney, J.M., Hoffbuhr, K., Siranni, S.N., Naidu, S., Marino, M., Hoffman, E. (2000) DHPLC as a method for high throughput cost effective mutation screening: application to Rett syndrome. Am. J. Hum. Genet. 67 [Suppl. 2], 398.

  69. Takashima, H., Boerkoel, C.F., Lupski, J.R. (2000) The evaluation of mutation analysis using DHPLC in CMT patients with MPZ, PMP22, GJB1, EGR2 mutations. Am. J. Hum. Genet. 67 [Suppl. 2], 403.

  70. Van Der Loop, F.T., Heidet, L., Timmer, E.D., Van Den Bosch, B.J., Leinonen, A., Antignac, C., Jefferson, J.A., Maxwell, A.P., Monnens, L.A., Schroder, C.H., Smeets, H.J. (2000) Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int. 58(5):1870-1875.

  71. Benit, P., Kara-Mostefa, A., Berthelon, M., Sengmany, K., Munnich, A., Bonnefont, J.P. (2000) Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography. Hum. Mutat. 16(5):417-421.

  72. Buyse, I.M., Fang, P., Hoon, K.T., Amir, R.E., Zoghbi, H.Y., Roa, B.B. (2000) Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms. Am. J. Hum. Genet. Dec;67(6):1428-36

  73. Kleymenova, E., Muga, S., Fischer, S., Walker, C.L. (2000) Application of high-performance liquid chromatography-based analysis of DNA fragments to molecular carcinogenesis. Mol. Carcinog. 29(2):51-58.

  74. 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.

  75. Escary, J.L., Cecillon, M., Maciazek, J., Lathrop, M., Tournier-Lasserve, E., Joutel, A. (2000) Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content. Hum. Mutat. 16(6):518-526.

  76. 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

  77. Pirulli, D., Giordano, M., Puzzer, D., Crovella, S., Rigato, I., Tiribelli, C., Momigliano-Richiardi, P., Amoroso, A. (2000) Rapid method for detection of extra (TA) in the promoter of the bilirubin-UDP-glucuronosyl transferase 1 gene associated with Gilbert syndrome. Clin Chem Jan;46(1):129-31

  78. D'Alfonso S, Rampi M, Rolando V, Giordano M, Momigliano-Richiardi P. (2000) New polymorphisms in the IL-10 promoter region. Genes Immun., 1(3):231-3

  79. Hecker KH, Asea A, Kobayashi K, Green S, Tang D, Calderwood SK. (2000) Mutation detection in the human HSP7OB' gene by denaturing high-performance liquid chromatography. Cell Stress Chaperones., 5(5):415-24

  80. Erlandson A, Stibler H, Kristiansson B, Wahlstrom J, Martinsson T. (2000) Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients. Genet Test., 4(3):293-7

  81. Orrico A, Lam C, Galli L, Dotti MT, Hayek G, Tong SF, Poon PM, Zappella M, Federico A, Sorrentino V. (2000) MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett. Sep 22;481(3):285-8.

  82. Lam CW, Yeung WL, Ko CH, Poon PM, Tong SF, Chan KY, Lo IF, Chan LY, Hui J, Wong V, Pang CP, Lo YM, Fok TF. (2000) Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. J Med Genet. Dec;37(12):E41.

  83. Austin, J., Buckland, P., Cardno, A.G., Williams, N., Spurlock, G., Hoogendoorn, B., Zammit, S., Jones, G., Sanders, R., Jones, L., McCarthy, G., Jones, S., Bray, N.J., McGuffin, P., Owen, M.J., and O'Donovan, M.C. (2000). The high affinity neurotensin receptor gene (NTSR1): comparative sequencing and association studies in schizophrenia. Mol. Psychiatry. Sep;5(5):552-557

  84. Austin, J., Hoogendoorn, B., Buckland, P., Speight, G., Cardno, A., Bowen, T., Williams, N., Spulock, G., Sanders, R., Jones, L., Murphy, K., McCarthy, G., McGuffin, P., Owen, M.J., and O´Donovan, M.C. (2000). Comparative sequencing of the proneurotensin gene and association studies in schizophrenia. Mol. Psychiatry 5, 208-212.

  85. Geurts, J.M.W., Janssen, R.G.J.H., van Greevenbroek, M.M.J., van der Kallen, C.J.H., Cantor, R.M., Bu, X., Aouizerat, B.E., Allayee, H., Rotter, J.I., and de Bruin, T.W.A. (2000). Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia. Hum. Mol. Genet. 9, 2067-2074.

  86. Hauser, M.T., Horrigan, S.K., Salmikangas, P., Torian, U.M., Viles, K.D., Dancel, R., Tim, R.W., Taivainen, A., Bartoloni, L., Gilchrist, J.M., Stajich, J.M., Gaskell, P.C., Gilbert, J.R., Vance, J.M., Pericak-Vance, M.A., Carpen, O., Westbrook, C.A., and Speer, M.C. (2000). Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum. Mol. Genet. 9, 2141-2147.

  87. Liu, W., Mai, M., Yokomizo, A., Qian, C., Tindall, D.J., Smith, D.I., Thibodeau, S.N. (2000). Differential expression and allelotyping of the p73 gene in neuroblastoma. Int. J. Oncol. 16, 181-185.

  88. Rivera, A., White, K., Stohr, H., Steiner, K., Hemmrich, N., Grimm, T., Jurklies, B., Lorenz, B., Scholl, H.P.N., Apfelstedt-Sylla, E., and Weber, B.H.F. (2000). A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am. J. Hum. Genet. 67, 800-813.

  89. Seelan RS, Qian C, Yokomizo A, Bostwick DG, Smith DI, Liu W (2000) Human acid ceramidase is overexpressed but not mutated in prostate cancer. Genes Chromosomes Cancer. Oct;29(2):137-46

  90. Liu W, Dong X, Mai M, Seelan RS, Taniguchi K, Krishnadath KK, Halling KC, Cunningham JM, Boardman LA, Qian C, Christensen E, Schmidt SS, Roche PC, Smith DI, Thibodeau SN. (2000) Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling. Nat Genet. Oct;26(2):146-7.

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