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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

 
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.

  91. Pickering-Brown S, Baker M, Yen SH, Liu WK, Hasegawa M, Cairns N, Lantos PL, Rossor M, Iwatsubo T, Davies Y, Allsop D, Furlong R, Owen F, Hardy J, Mann D, Hutton M. (2000) Pick's disease is associated with mutations in the tau gene. Ann Neurol. Dec;48(6):859-67.

  92. Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM. (2000) Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Am J Hum Genet Apr;66(4):1192-1198.

  93. Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B. (2000) A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet.Sep;26(1):56-60.

  94. Lowrey PL, Shimomura K, Antoch MP, Yamazaki S, Zemenides PD, Ralph MR, Menaker M, Takahashi JS. (2000). Positional syntenic cloning and functional characterization of the mammalian circadian mutation tau. Science 288, 483-491.

  95. Cotton, R.G.H., Bray, P.J. (2001) Using CCM and DHPLC to detect mutations in the glucocorticoid receptor in atherosclerosis: a comparison. J Biochem. Biophys. Meth. Jan;47(1-2):91-100

  96. Holinski-Feder, E., Mueller-Koch, Y., Friedl, W., Moeslein, G., Keller, G., Plaschke, J., Ballhausen, W., Gross, M., Baldwin-Jedele, K., Jungck, M., Mangold, E., Vogelsang, H., Schackert, H.-K., Lohsea, P., Murken, J., Meitinger, Th. (2001) DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2. J Biochem. Biophys. Meth. Jan;47(1-2):21-32

  97. Roberts, P.S., Jozwiak, S., Kwiatkowski, D.J., Dabora, S.L. (2001) Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene. J Biochem. Biophys. Meth. Jan;47(1-2):33-37

  98. Oldenburg, J., Ivaskevicius, V., Rost, S., Fregin, A., White, K., Holinski-Feder, E., Mueller, C.R., Weber, B.H.F. (2001) Evaluation of DHPLC in the analysis of hemophilia A. J Biochem. Biophys. Meth. Jan;47(1-2):39-51

  99. Rischewski, J., Schneppenheim, R. (2001) Screening strategies for a highly polymorphic gene: DHPLC analysis of the Fanconi anemia group A gene. J Biochem. Biophys. Meth. Jan;47(1-2):53-64

  100. Hall, A.G., Hamilton, P., Minto, L., Coulthard, S.A. (2001) The use of denaturing high-pressure liquid chromatography for the detection of mutations in thiopurine methyltransferase. J Biochem. Biophys. Meth. Jan;47(1-2):65-71

  101. Gross, E., Kiechle, M., Arnold, N. (2001) Mutation analysis of p53 ovarian tumors by DHPLC. J Biochem. Biophys. Meth. Jan;47(1-2):73-81

  102. Kleymenova, E., Walker, C.L. (2001) Determination of loss of heterozygosity in frozen and paraffin embedded tumors by denaturing high-performance liquid chromatography (DHPLC). J Biochem. Biophys. Meth. Jan;47(1-2):83-90

  103. Lam CW, Hui KN, Poon PM, Luk NM, Yuen YP, Tong SF, Lai CK, Chan YW, Lo KK. (2001) Novel splicing mutation of the PPOX gene (IVS10+1G-->A) detected by denaturing high-performance liquid chromatography. Clin Chim Acta Mar; 305(1-2):197-200

  104. Cohn D, Mutch D, Elbendary A, Rader J, Herzog T, Goodfellow P. (2001) No evidence for BCL10 mutation in endometrial cancers with microsatellite instability. Hum Mutat.,17(2):117-21

  105. Passarino G, Shen P, Van Kirk JB, Lin AA, De Benedictis G, Cavalli Sforza LL, Oefner PJ, Underhill PA. (2001) The Werner syndrome gene and global sequence variation. Genomics., 71(1):118-22

  106. Schaeffeler E, Lang T, Zanger UM, Eichelbaum M, Schwab M. (2001) High-throughput genotyping of thiopurine S-methyltransferase by denaturing HPLC. Clin Chem.;47(3):548-55.

  107. Glatt CE, DeYoung JA, Delgado S, Service SK, Giacomini KM, Edwards RH, Risch N, Freimer NB. (2001) Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes. Nature Genetics 27(4): 435-438.

  108. Benit P, Bonnefont JP, Kara Mostefa A, Francannet C, Munnich A, Ray PF. (2001) Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis. Prenat Diagn 21(4):279-283

  109. Zimmer R, Thomas P. (2001) Mutations in the Carcinoembryonic Antigen Gene in Colorectal Cancer Patients: Implications on Liver Metastasis. Cancer Res Apr 1;61(7):2822-2826

  110. Bolino, A., Leonie, L.J., Zimmer, M., Boerkoel, C.F., Takashima, H., Monaco, A.P., Lupski, J.R. (2001) Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics Mar;3(2):107-9

  111. Berggren, M.M., Powis, G. (2001) Alternative splicing is associated with decreased expression of the redox proto-oncogene thioredoxin-1 in human cancers. Arch Biochem Biophys May 1;389(1):144-9

  112. Benit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rotig A. (2001) Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency. Am J Hum Genet. Jun;68(6):1344-1352

  113. Zimmer R, Thomas P. (2001) Mutations in the carcinoembryonic antigen gene in colorectal cancer patients: implications on liver metastasis. Cancer Res. Apr 1;61(7):2822-6.

  114. Le Marechal C, Audrezet MP, Quere I, Raguenes O, Langonne S, Ferec C. (2001) Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum Genet. Apr;108(4):290-8

  115. Christiansen L, Bygum A, Kaehne M, Jensen A, Horder M, Petersen NE. (2001) Mutation screening of the entire coding region of the protoporphyrinogen oxidase gene using denaturing gradient gel electrophoresis and denaturing hplc. Clin Chem. Jun;47(6):1115-7

  116. Pitarque M, von Richter O, Oke B, Berkkan H, Oscarson M, Ingelman-Sundberg M. (2001) Identification of a single nucleotide polymorphism in the tata box of the cyp2a6 gene: impairment of its promoter activity. Biochem Biophys Res Commun. Jun 8;284(2):455-60

  117. Bowen T, Williams N, Norton N, Spurlock G, Wittekindt OH, Morris-Rosendahl DJ, Williams H, Brzustowicz L, Hoogendoorn B, Zammit S, Jones G, Sanders RD, Jones LA, McCarthy G, Jones S, Bassett A, Cardno AG, Owen MJ, O'Donovan MC. (2001) Mutation screening of the KCNN3 gene reveals a rare frameshift mutation. Mol Psychiatry. May;6(3):259-60

  118. Taliani MR, Roberts SC, Dukek BA, Pruthi RK, Nichols WL, Heit JA. (2001) Sensitivity and specificity of denaturing high-pressure liquid chromatography for unknown protein C gene mutations. Genet Test. Spring;5(1):39-44.

  119. Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N, Scacheri C, Giron J, Schuette J, Innis J, Marino M, Philippart M, Narayanan V, Umansky R, Kronn D, Hoffman EP, Naidu S. (2001) MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology. Jun 12;56(11):1486-95.

  120. Lam CW, Poon PM, Tong SF, Ko CH. (2001) Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis. Am J Med Genet. Mar 1;99(2):161-3

  121. Lam CW, Poon PM, Tong SF, Lo AW, Lai CK, Choi KL, Tiu SC, Chan YW, Shek CC. (2001) Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC. Clin Chem. 2001 Feb;47(2):343-6.

  122. Wolford JK, Hanson RL, Bogardus C, Prochazka M. (2001) Analysis of the lamin A/C gene as a candidate for type II diabetes susceptibility in Pima Indians. Diabetologia. Jun;44(6):779-82.

  123. Boutin P, Vasseur F, Samson C, Wahl C, Froguel P. (2001) Routine mutation screening of HNF-1alpha and GCK genes in MODY diagnosis: how effective are the techniques of DHPLC and direct sequencing used in combination? Diabetologia.Jun;44(6):775-8.

  124. Lin D, Goldstein JA, Mhatre AN, Lustig LR, Pfister M, Lalwani AK. (2001) Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). Hum Mutat;18(1):42-51.

  125. Girard M, Couvert P, Carrie A, Tardieu M, Chelly J, Beldjord C, Bienvenu T. (2001). Parental origin of de novo MECP2 mutations in Rett syndrome. Eur J Hum Genet 9(3):231-236.

  126. Niu T, Seielstad M, Zeng X, Apffel A, Li G, Hahnenberger K, Xu X. (2001) Detection of novel ALAD gene polymorphisms using denaturing high-performance liquid chromatography. Hum Biol. Jun;73(3):429-42.

  127. Xiao W, Stern D, Jain M, Huber CG, Oefner PJ. (2001) Multiplex capillary denaturing high-performance liquid chromatography with laser-induced fluorescence detection. Biotechniques. Jun;30(6):1332-8

  128. Boerkoel, C.F., Takashima, H., Stankiewicz, P., Garcia, C.A., Leber, S.M., Rhee-Morris, L., and Lupski, J.R. (2001). Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am. J. Hum. Genet. 68, 325-333.

  129. Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C., and De Jonghe, P. (2001). De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68, 1327-1332.

  130. Devaney, J.M., Pettit, E.L., Kaler, S.G., Vallone, P.M., Butler, J.M., and Marino, M.A. (2001). Genotyping of two mutations in the HFE gene using single-base extension and high-performance liquid chromatography. Anal. Chem. 73, 620-624.

  131. Jacobsen, N.J., Elvidge, G., Franks, E.K., O´Donovan, M.C., Craddock, N., and Owen, M.J. (2001). CUX2, a potential regulator of NCAM expression: Genomic characterization and analysis as a positional candidate susceptibility gene for bipolar disorder. Am. J. Med. Genet. 105, 295-300.

  132. Jacobsen, N.J.O., Franks, E.K.E., Elvidge, G., Jones, I., McCandless, F., O´Donovan, M.C., Owen, M.J., and Craddock, N. (2001). Exclusion of the Darier´s disease gene, ATP2A2, as a common susceptibility gene for bipolar disorder. Mol. Psychiatry 6, 92-97.

  133. Klein, B., Weirich, G., and Brauch, H. (2001) DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations. Hum. Genet. 108, 376-384.

  134. Liang, Q., Davis, P.A., Thompson, B.H., and Simpson, J.T. (2001). High-performance liquid chromatography multiplex detection of two single nucleotide mutations associated with hereditary hemochromatosis. J. Chromatogr. B Biomed. Sci. Appl. 754, 265-270.

  135. Lipkin, S.M., Wang, V., Stoler, D.L., Anderson, G.R., Kirsch, I., Hadley, D., Lynch, H.T., and Collins, F.S. (2001). Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers. Hum. Mutat. 17, 389-396.

  136. Nicolao P, Carella M, Giometto B, Tavolato B, Cattin R, Giovannucci-Uzielli ML, Vacca M, Regione FD, Piva S, Bortoluzzi S, Gasparini P. (2001) DHPLC analysis of the MECP2 gene in Italian Rett patients. Hum Mutat. Aug;18(2):132-40.

  137. Sauer CG, White K, Stohr H, Grimm T, Hutchinson A, Bernstein PS, Lewis RA, Simonelli F, Pauleikhoff D, Allikmets R, Weber BH. Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration. Br J Ophthalmol. 2001 Aug;85(8):969-75.

  138. Cox D, Boillot C, Canzian F. (2001) Data mining: Efficiency of using sequence databases for polymorphism discovery. Hum Mutat. Feb;17(2):141-50

  139. Ribas G, Neville MJ, Campbell RD. (2001) Single-nucleotide polymorphism detection by denaturing high-performance liquid chromatography and direct sequencing in genes in the MHC class III region encoding novel cell surface molecules. Immunogenetics. Jul;53(5):369-381.

  140. Marsh DJ, Theodosopoulos G, Howell V, Richardson AL, Benn DE, Proos AL, Eng C, Robinson BG. (2001) Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography. Neoplasia. May-Jun;3(3):236-44.

  141. Teraoka SN, Malone KE, Doody DR, Suter NM, Ostrander EA, Daling JR, Concannon P. (2001) Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history. Cancer. Aug 1;92(3):479-87.

  142. Le Gac G, Mura C, Ferec C. (2001) Complete scanning of the hereditary hemochromatosis gene (hfe) by use of denaturing HPLC. Clin Chem. Sep;47(9):1633-40.

  143. Matsubara A, Wasson JC, Donelan SS, Welling CM, Glaser B, Permutt MA. (2001) Isolation and characterization of the human AKT1 gene, identification of 13 single nucleotide polymorphisms (SNPs), and their lack of association with Type II diabetes. Diabetologia. Jul;44(7):910-3.

  144. Donn RP, Shelley E, Ollier WE, Thomson W. (2001) A novel 5'-flanking region polymorphism of macrophage migration inhibitory factor is associated with systemic-onset juvenile idiopathic arthritis. Arthritis Rheum. Aug;44(8):1782-5.

  145. Thorstenson, Y.R., Shen, P., Tusher, V.G., Davis, R.W., Chu, G., Oefner, P.J. (2001) Global analysis of ATM polymorphism reveals significant functional constraint. Am.J.Hum.Genet. 69, 396-412.

  146. Takashima H, Boerkoel CF, Lupski JR. (2001) Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy. Genet Med. Sep-Oct;3(5):335-342.

  147. Lindor NM, Dechet CB, Greene MH, Jenkins RB, Zincke MT, Weaver AL, Wilson M, Zincke H, Liu W. (2001) Papillary renal cell carcinoma: analysis of germline mutations in the MET proto-oncogene in a clinic-based population. Genet Test. Summer;5(2):101-6.

  148. Mizoguchi M, Tamura T, Yamaki A, Higashihara E, Shimizu Y. (2001) Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family. J Hum Genet;46(9):511-517

  149. Drury KC, Liu MC, Lilleberg S, Kipersztok S, Williams RS. (2001) Results on single cell PCR for Huntington's gene and WAVE product analysis for preimplantation genetic diagnosis. Mol Cell Endocrinol. Oct 22;183 Suppl 1:S1-4

  150. Thorstenson, Y.R., Roxas, A., Kroiss, R., Wagner, T., Oefner, P.J. (2001) Germline carriers of ATM mutations are prevalent among Austrian hereditary breast and ovarian cancer (HBOC) patients. Am. J. Hum. Genet. 69 [Suppl.], 205

  151. Orlow I, Roy P, Barz A, Canchola R, Song Y, Berwick M. (2001) Validation of Denaturing High Performance Liquid Chromatography as a Rapid Detection Method for the Identification of Human INK4A Gene Mutations. J Mol Diagn. Nov;3(4):158-163.

  152. Menegatti E, Ferrone M, Gallone S, Mameli M, Grosso E, Migone N. (2001) Molecular genetic analysis of von Hippel-Lindau disease by denaturing high-performance liquid chromatography. Contrib Nephrol.;(136):306-11.

  153. Bernstein PS, Tammur J, Singh N, Hutchinson A, Dixon M, Pappas CM, Zabriskie NA, Zhang K, Petrukhin K, Leppert M, Allikmets R. (2001) Diverse Macular Dystrophy Phenotype Caused by a Novel Complex Mutation in the ELOVL4 Gene. Invest Ophthalmol Vis Sci. 2001 Dec;42(13):3331-3336.

  154. Bennett RR, Dunnen J, O'Brien KF, Darras BT, Kunkel LM. (2001) Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet. ;2(1):17.

  155. Pirulli D, Giordano M, Lessi M, Spano A, Puzzer D, Zezlina S, Boniotto M, Crovella S, Florian F, Marangella M, Momigliano-Richiardi P, Savoldi S, Amoroso A. (2001) Detection of AGXT bgene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxaluria type 1. Clin Exp Med. Jun;1(2):99-104.

  156. Wolford JK, Thameem F, Bogardus C, Prochazka M. (2001) Polymorphism screening of the insulin receptor-related receptor gene (INSRR) on 1q in Pima Indians. Mol Cell Probes 15:223-227.

  157. Ishii T, Sato S, Kosaki K, Sasaki G, Muroya K, Ogata T, Matsuo N. (2001) Micropenis and the AR Gene: Mutation and CAG Repeat-Length Analysis. J Clin Endocrinol Metab. 86(11):5372-5378.

  158. Han SS, Cooper DN, Upadhyaya MN. (2001) Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene. Hum Genet. Nov;109(5):487-497.

  159. Le Marechal C, Chen JM, Quere I.I, Raguenes O, Ferec C, Auroux J. (2001) Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography. BMC Genet.;2(1):19.

  160. Devon RS, Anderson S, Teague PW, Burgess P, Kipari TM, Semple CA, Millar JK, Muir WJ, Murray V, Pelosi AJ, Blackwood DH, Porteous DJ. (2001) Identification of polymorphisms within Disrupted in Schizophrenia 1 and Disrupted in Schizophrenia 2, and an investigation of their association with schizophrenia and bipolar affective disorder. Psychiatr Genet.Jun;11(2):71-8.

  161. Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE. (2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet.Oct;29(2):166-73.

  162. Keller G, Hartmann A, Mueller J, Hofler H. (2001) Denaturing High Pressure Liquid Chromatography (DHPLC) for the Analysis of Somatic p53 Mutations. Lab Invest.Dec;81(12):1735-1737.

  163. zur Stadt U, Rischewski J, Schneppenheim R, Kabisch H. (2001). Denaturing HPLC for identification of clonal T-cell receptor gamma rearrangements in newly diagnosed acute lymphoblastic leukemia. Clin Chem 47:2003-2011.

  164. Atencio DP, Iannuzzi CM, Green S, Stock RG, Bernstein JL, Rosenstein BS. (2001) Screening breast cancer patients for ATM mutations and polymorphisms by using denaturing high-performance liquid chromatography. Environ Mol Mutagen. 2001;38(2-3):200-208.

  165. Pallares-Ruiz N, Blanchet P, Mondain M, Low-Hong S, Demaille J, Claustres M, Roux AF. (2001) Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness. Genet Test. Winter;5(4):339-43.

  166. Wu G, Wu W, Hegde M, Fawkner M, Chong B, Love D, Su LK, Lynch P, Snow K, Richards CS. (2001) Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography. Genet Test. Winter;5(4):281-90.

  167. Tomka M, Sedlakova O, Reinerova M, Veselovska Z, Stevurkova V, Bartosova Z, Zajac V. (2001). Mutation screening of the BRCA1 gene in Slovak patients. Neoplasma 48:451-455.

  168. Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A. (2001). Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum. Mol. Genet. 10, 189-194.

  169. Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Kerr B, Salmon A, Ostman-Smith I, Watkins H. (2001). Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum. Mol. Genet. 10, 1215-1220.

  170. Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S, Wahrer DC, Sgroi DC, Lane WS, Haber DA, Livingston DM. (2001). BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 105, 149-160.

  171. Varon R, Reis A, Henze G, von Einsiedel HG, Sperling K, Seeger K. (2001). Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res. 61, 3570-3572.

  172. Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS. (2001). A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol. Cell. 8, 375-381.

  173. Lev-Lehman E, Bercovich D, Xu W, Stockton DW, Beaudet AL. (2001). Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4. J. Hum. Genet. 46, 362-366.

  174. Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K. (2001). A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat. Genet. 27, 89-93.

  175. Ayyagari R, Zhang K, Hutchinson A, Yu Z, Swaroop A, Kakuk LE, Seddon JM, Bernstein PS, Lewis RA, Tammur J, Yang Z, Li Y, Zhang H, Yashar BM, Liu J, Petrukhin K, Sieving PA, Allikmets R. (2001) Evaluation of the ELOVL4 gene in patients with age-related macular degeneration. Ophthalmic Genet. Dec;22(4):233-9.

  176. Thameem F, Wolford JK, Bogardus C, Prochazka M. (2001). Analysis of PBX1 as a candidate gene for type 2 diabetes mellitus in Pima Indians. Biochim. Biophys. Acta. 1518, 215-220.

  177. Sugimoto Y, Morita R, Amano K, Shah PU, Pascual-Castroviejo I, Khan S, Delgado-Escueta AV, Yamakawa K. (2001). T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients. Epilepsy Res. 46, 139-144.

  178. Maeyama K, Kosaki R, Yoshihashi H, Casey B, Kosaki K. (2001). Mutation analysis of left-right axis determining genes in NOD and ICR, strains susceptible to maternal diabetes. Teratology 63, 119-126.

  179. Elanko N, Sibbring JS, Metcalfe KA, Clayton-Smith J, Donnai D, Temple IK, Wall SA, Wilkie AO. (2001). A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Hum. Mutat. 18, 535-541.

  180. Salahshor, S., Haixin, L., Huo, H., Kristensen, V.N., Loman, N., Sjoberg-Margolin, S., Borg, A., Borresen-Dale, A.L., Vorechovsky, I., Lindblom, A. (2001). Low frequency of E-cadherin alterations in familial breast cancer. Breast Cancer Res. 3, 199-207.

  181. Nakano, M., Yamada, K., Fain, J., Sener, E.C., Selleck, C.J., Awad, A.H., Zwaan, J., Mullaney, P.B., Bosley, T.M., Engle, E.C. (2001). Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat. Genet. 29, 315-320.

  182. Hudson BI, Stickland MH, Futers TS, Grant PJ. (2001). Effects of novel polymorphisms in the RAGE gene on transcriptional regulation and their association with diabetic retinopathy. Diabetes 50, 1505-1511.

  183. Hull J, Ackerman H, Isles K, Usen S, Pinder M, Thomson A, Kwiatkowski D. (2001). Unusual haplotypic structure of IL8, a susceptibility locus for a common respiratory virus. Am. J. Hum. Genet. 69, 413-419.

  184. Athan ES, Williamson J, Ciappa A, Santana V, Romas SN, Lee JH, Rondon H, Lantigua RA, Medrano M, Torres M, Arawaka S, Rogaeva E, Song Y-Q, Sato C, Kawarai T, Fafel KC, Boss MA, Seltzer WK, Stern Y, George-Hyslop PS, Tycko B, Mayeux R. (2001). A founder mutation in Presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. JAMA 286, 2257-2263.

  185. Quintanilla-Martinez L, Kremer M, Keller G, Nathrath M, Gamboa-Dominguez A, Meneses A, Luna-Contreras L, Cabras A, Hoefler H, Mohar A, Fend F. (2001). P53 mutations in nasal natural killer/T-cell lymphoma from Mexico: association with large cell morphology and advanced disease.Am J Pathol 159, 2095-2105. 

  186. Heath KE, Campos-Barros A, Toren A, Rozenfield-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, Greinacher A, Epstein CJ, Glucksman MJ, Martignetti JA. ( 2001). Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-Like syndromes Am. J. Hum. Genet. 69, 1033-1045.

  187. Ranade K, Wu KD, Hwu CM, Ting CT, Pei D, Pesich R, Hebert J, Chen YD, Pratt R, Olshen R, Masaki K, Risch N, Cox DR, Botstein D. (2001). Genetic variation in the human urea transporter-2 is associated with variation in blood pressure. Hum. Mol. Genet. 10, 2157-2164.

  188. Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, Donarum EA, Marino M, Tiso N, Viitasalo M, Toivonen L, Stephan DA, Kontula K. (2001). Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 103, 485-490.

  189. Muroya K, Sasagawa I, Suzuki Y, Nakada T, Ishii T, Ogata T. (2001). Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis. Mol. Hum. Reprod. 7, 409-413.

  190. Eccles D, Harvey J, Bateman A, Ross F. (2001). A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour. J. Med. Genet. 38, 861-863.

  191. Blair E, Price SJ, Baty CJ, Ostman-Smith I, Watkins H. (2001). Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. J. Med. Genet. 38, 385-423.

  192. Kelberman D, Tyson J, Chandler DC, McInerney AM, Slee J, Albert D, Aymat A, Botma M, Calvert M, Goldblatt J, Haan EA, Laing NG, Lim J, Malcolm S, Singer SL, Winter RM, Bitner-Glindzicz M. (2001). Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Hum. Genet. 109, 638-645.

  193. van Heel DA, Carey AH, Jewell DP. (2001). Identification of novel polymorphisms in the beta7 integrin gene: family-based association studies in inflammatory bowel disease. Genes Immun. 2, 455-460

  194. Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz M. (2001). Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet 38:530-533.

  195. Amini-Nekoo A, Futers TS, Moia M, Mannucci PM, Grant PJ, Ariens RA. (2001). Analysis of the tissue factor pathway inhibitor gene and antigen levels in relation to venous thrombosis. Br J Haematol 113, 537-543.

  196. Malandrini A, Mari F, Palmeri S, Gambelli S, Berti G, Bruttini M, Bardelli AM, Williamson K, van Heyningen V, Renieri A. (2001). PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. Clin Genet 60, 151-154.

  197. Bacon AL, Farrington SM, Dunlop MG. (2001). Mutation frequency in coding and non-coding repeat sequences in mismatch repair deficient cells derived from normal human tissue. Oncogene 20, 7464-7471.

  198. Gerber S, Perrault I, Hanein S, Barbet F, Ducroq D, Ghazi I, Martin-Coignard D, Leowski C, Homfray T, Dufier JL, Munnich A, Kaplan J, Rozet JM. (2001). Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur. J. Hum. Genet. 9, 561-571.

  199. Devon RS, Anderson S, Teague PW, Muir WJ, Murray V, Pelosi AJ, Blackwood DH, Porteous DJ. (2001). The genomic organisation of the metabotropic glutamate receptor subtype 5 gene, and its association with schizophrenia. Mol. Psychiatry 6, 311-314.

  200. Erlandson A, Bjursell C, Stibler H, Kristiansson B, Wahlstrom J, Martinsson T. (2001). Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations. Hum. Genet. 108, 359-367.

  201. Lin WH, Chiu KC, Chang HM, Lee KC, Tai TY, Chuang LM. (2001). Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes. Hum. Mol. Genet. 10, 1753-1760.

  202. Cruts M, Dermaut B, Rademakers R, Roks G, Van den Broeck M, Munteanu G, van Duijn CM, Van Broeckhoven C. (2001). Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease. Neurosci. Lett. 313, 105-107.

  203. Moller P, Borg A, Heimdal K, Apold J, Vallon-Christersson J, Hovig E, Maehle L; The Norwegian Inherited Breast Cancer Group.; The Norwegian Inherited Ovarian Cancer Group. (2001). The BRCA1 syndrome and other inherited breast or breast-ovarian cancers in a Norwegian prospective series. Eur. J. Cancer 37, 1027-1032.

  204. Szeto CY, Tang NL, Lee DT, Stadlin A. (2001). Association between mu opioid receptor gene polymorphisms and Chinese heroin addicts. Neuroreport 12, 1103-1106.

  205. Cobb CJ, Scott G, Swingler RJ, Wilson S, Ellis J, MacEwen CJ, McLean WH. (2002) Rapid mutation detection by the Transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma. Br J Ophthalmol. Feb;86(2):191-195.

  206. Lam CW, Li CK, Lai CK, Tong SF, Chan KY, Ng GS, Yuen YP, Cheng AW, Chan YW. (2002) DNA-Based Diagnosis of Isolated Sulfite Oxidase Deficiency by Denaturing High-Performance Liquid Chromatography. Mol Genet Metab. Jan;75(1):91-95.

  207. Iannuzzi CM, Atencio DP, Green S, Stock RG, Rosenstein BS. (2002) ATM mutations in female breast cancer patients predict for an increase in radiation-induced late effects. Int J Radiat Oncol Biol Phys, Mar 1;52(3):606-613

  208. Colosimo A, Guida V, De Luca A, Cappabianca MP, Bianco I, Palka G, Dallapiccola B. (2002) Reliability of DHPLC in mutational screening of [beta]-globin (HBB) alleles. Hum Mutat Mar;19(3):287-295

  209. Bunn CF, Lintott CJ, Scott RS, George PM. (2002) Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. Hum Mutat Mar;19(3):311

  210. Kurzawski G, Safranow K, Suchy J, Chlubek D, Scott RJ, Lubinski J. (2002) Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography. J Biochem Biophys Methods. Mar 4;51(1):89-100.

  211. Yamamoto N, Nakayama J, Yamakawa-Kobayashi K, Hamaguchi H, Miyazaki R, Arinami T. (2002). Identification of 33 polymorphisms in the adipocyte-derived leucine aminopeptidase (ALAP) gene and possible association with hypertension. Hum Mutat 19:251-257.

  212. Yamamoto N, Nakayama J, Yamakawa-Kobayashi K, Hamaguchi H, Miyazaki R, Arinami T. (2002). Identification of 33 polymorphisms in the adipocyte-derived leucine aminopeptidase (ALAP) gene and possible association with hypertension. Hum Mutat 19:251-257.

  213. Ravnik-Glavac M, Atkinson A, Glavac D, Dean M. (2002) DHPLC screening of cystic fibrosis gene mutations. Hum Mutat. Apr;19(4):374-83.

  214. Matyas G, De Paepe A, Halliday D, Boileau C, Pals G, Steinmann B. (2002) Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. Hum Mutat. Apr;19(4):443-56.

  215. Shi J, Hui L, Xu Y, Wang F, Huang W, Hu G. (2002) Sequence variations in the mu-opioid receptor gene (OPRM1) associated with human addiction to heroin. Hum Mutat. Apr;19(4):459-60.

  216. Webster MT, Wells RS, Clegg JB. (2002) Analysis of variation in the human beta-globin gene cluster using a novel DHPLC technique. Mutat Res. Apr 25;501(1-2):99-103.

  217. D'Alfonso S, Mellai M, Giordano M, Pastore A, Malferrari G, Naldi P, Repice A, Liguori M, Cannoni S, Milanese C, Caputo D, Savettieri G, Momigliano-Richiardi P. (2002) Identification of single nucleotide variations in the coding and regulatory regions of the myelin-associated glycoprotein gene and study of their association with multiple sclerosis. J Neuroimmunol. May;126(1-2):196-204.

  218. Rossetti S, Chauveau D, Walker D, Saggar-Malik A, Winearls CG, Torres VE, Harris PC. (2002) A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int. May;61(5):1588-99.

  219. Deng L, Zhao XR, Pan KF, Wang Y, Deng XY, Lu YY, Cao Y. (2002) Cyclin D1 polymorphism and the susceptibility to NPC using DHPLC. Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai). Jan;34(1):16-20.

  220. Pissard S, Huynh LT, Martin J, Goossens M.(2002). HFE genotyping by amplification refractory mutation system-denaturing HPLC. Clin Chem 48:769-772.

  221. Miraglia Del Giudice E, Cirillo G, Nigro V, Santoro N, D'Urso L, Raimondo P, Cozzolino D, Scafato D, Perrone L. (2002) Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity. Int J Obes Relat Metab Disord 26: 647-651.

  222. Flex E, De Luca A, D'Apice MR, Buccino A, Dallapiccola B, Novelli G. (2002) Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC). Neuromuscul Disord 12:501-505.

  223. Liu MR, Pan KF, Li ZF, Wang Y, Deng DJ, Zhang L, Lu YY. (2002). Rapid screening mitochondrial DNA mutation by using denaturing high-performance liquid chromatography. World J Gastroenterol 8:426-430.

  224. Desai PP, Bunker CH, Ukoli FA, Kamboh MI. (2002). Genetic variation in the apolipoprotein D gene among African blacks and its significance in lipid metabolism. Atherosclerosis 163(2):329-338.

  225. Ezzeldin H, Okamoto Y, Johnson MR, Diasio RB. (2002) A high-throughput denaturing high-performance liquid chromatography method for the identification of variant alleles associated with dihydropyrimidine dehydrogenase deficiency. Anal Biochem. 2002 Jul 1;306(1):63-73.

  226. Antonarakis ES, Sampson JR, Cheadle JP. (2002) Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2. J Biochem Biophys Methods. 2002 Apr 18;51(2):161-4.

  227. Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U. (2002) Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes. Am J Hum Genet. 2002 Aug 71(2):223-237.

  228. Rugg EL, Common JE, Wilgoss A, Stevens HP, Buchan J, Leigh IM, Kelsell DP. (2002) Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography. Br J Dermatol. Jun;146(6):952-957.

  229. Baumer A. (2002) Analysis of the methylation status of imprinted genes based on methylation-specific polymerase chain reaction combined with denaturing high-performance liquid chromatography. Methods. Jun;27(2):139-43.

  230. Vatta M, Dumaine R, Antzelevitch C, Brugada R, Li H, Bowles NE, Nademanee K, Brugada J, Brugada P, Towbin JA. (2002). Novel mutations in domain I of SCN5A cause Brugada syndrome. Mol. Genet. Metab. 75, 317-324.

  231. Li H, Yamagata T, Mori M, Momoi MY. (2002). Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1. J. Hum. Genet. 47, 262-265.

  232. Leonard DG, Travis LB, Addya K, Dores GM, Holowaty EJ, Bergfeldt K, Malkin D, Kohler BA, Lynch CF, Wiklund T, Stovall M, Hall P, Pukkala E, Slater DJ, Felix CA. (2002). p53 mutations in leukemia and myelodysplastic syndrome after ovarian cancer. Clin. Cancer Res. 8, 973-985.

  233. Corless CL, McGreevey L, Haley A, Town A, Heinrich MC. (2002). KIT Mutations Are Common in Incidental Gastrointestinal Stromal Tumors One Centimeter or Less in Size. Am J Pathol 160, 1567-1572.

  234. Todd RD, Lobos EA. (2002). Mutation screening of the dopamine D2 receptor gene in attention-deficit hyperactivity disorder subtypes: Preliminary report of a research strategy. Am. J. Hum. Genet. 114, 34-41.

  235. Jensen MA, Charlesworth B, Kreitman M. (2002). Patterns of Genetic Variation at a Chromosome 4 Locus of Drosophila melanogaster and D. simulans. Genetics 160, 493-507.

  236. Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CS, Baird G, Jannoun L, Slonims V, Stott CM, Merricks MJ, Bolton PF, Bailey AJ, Monaco AP. (2002). FOXP2 Is Not a Major Susceptibility Gene for Autism or Specific Language Impairment. Am. J. Hum. Genet. 70, 1318-1327.

  237. Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schoneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG. (2002). PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription-Factor Domains and Parallel Beta-Helix 1 Repeats. Am. J. Hum. Genet. 70, 1305-1317.

  238. Yang P, Yokomizo A, Tazelaar HD, Marks RS, Lesnick TG, Miller DL, Sloan JA, Edell ES, Meyer RL, Jett J, Liu W. (2002). Genetic determinants of lung cancer short-term survival: the role of glutathione-related genes. Lung Cancer 35, 221-229.

  239. Richter-Unruh A, Martens JW, Verhoef-Post M, Wessels HT, Kors WA, Sinnecker GH, Boehmer A, Drop SL, Toledo SP, Brunner HG, Themmen AP. (2002). Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. Clin. Endocrinol. 56, 103-112.

  240. Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. (2002). Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum. Mol. Genet. 11, 87-92.

  241. Donaldson IJ, Shefta J, Lawson CA, Bushnell JR, Morgan AW, Isaacs JD, Carpenter D, Shaw MA, Rooth I, Quinnell RJ, Zumla AM, Ollier WR, Chintu CZ, Muyinda GP, Hill AS, Boylston AW. (2002). Unique TCR beta-subunit variable gene haplotypes in Africans. Immunogenetics 53, 884-893.

  242. Taniguchi K, Yang P, Jett J, Bass E, Meyer R, Wang Y, Deschamps C, Liu W. (2002). Polymorphisms in the promoter region of the neutrophil elastase gene are associated with lung cancer development. Clin. Cancer Res. 8, 1115-1120.

  243. Lingle WL, Barrett SL, Negron VC, D'Assoro AB, Boeneman K, Liu W, Whitehead CM, Reynolds C, Salisbury JL. (2002). Centrosome amplification drives chromosomal instability in breast tumor development. Proc. Natl. Acad. Sci. 99, 1978-1983.

  244. Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO. (2002). Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am. J. Hum. Genet. 70, 472-486. 

  245. Fujita H, Kosaki R, Yoshihashi H, Ogata T, Tomita M, Hasegawa T, Takahashi T, Matsuo N, Kosaki K. (2002). Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis. Teratology 65, 10-18.

  246. Lei H, Sjoberg-Margolin S, Salahshor S, Werelius B, Jandakova E, Hemminki K, Lindblom A, Vorechovsky I. (2002). CDH1 mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk. Int. J. Cancer 98, 199-204.

  247. Blair, E., Redwood, C., de Jesus Oliveira, M., Moolman-Smook, J.C., Brink, P., Corfield, V.A., Ostman-Smith, I., Watkins, H. (2002). Mutations of the light meromyosin domain of the B-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ. Res. 90, 263-269.

  248. Bitoun, E., Chavanas, S., Irvine, A.D., Lonie, L., Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S., Mitsuhashi, Y., Taieb, A., de Prost, Y., Zambruno, G., Harper, J.I., Hovnanian, A. (2002). Netherton Syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J. Invest. Dermatol. 118, 352-361.

  249. Ward, C.J., Hogan, M. C., Rossetti, S., Walker, D., Sneddon, T., Wang, X., Kubly, V., Cunningham, J.M., Bacallao, R., Ishibashi, M., Milliner, D.S., Torres, V.E., Harris, P.C. (2002). The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat. Genet. 30, 1-11.

  250. Vatta, M., Dumaine, R., Varghese, G., Richard, T.A., Shimizu, W., Aihara, N., Bademanee, K., Brugada, R., Brugada, J., Veerakul, G., Li, H., Bowles, N.E., Brugada, P., Antzelevitch, C., Towbin, J.A. (2002). Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum. Mol. Genet. 11, 337-345.

  251. Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M. (2002) Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.Hum. Mol. Genet. 11, 961-969.

  252. Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. (2002) ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.Hum. Mol. Genet. 11, 981-991.

  253. Wang Z, Li H, Moss AJ, Robinson J, Zareba W, Knilans T, Bowles NE, Towbin JA. (2002) Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.Mol. Genet. Metab. 75, 308-316.

  254. Bardwell PD, Martin A, Scharff MD. (2002) Mutation detection of immunoglobulin V-regions by DHPLC. J Immunol Methods. Aug 1;266(1-2):165-73.

  255. Su Z, Zhang S, Hou Y, Zhang L, Liao L, Xiao C. (2002) Relationship between a novel polymorphism of lipoprotein lipase gene and coronary heart disease. Chin Med J (Engl). 2002 May;115(5):677-80.

  256. Baldinu P, Cossu A, Manca A, Satta MP, Pisano M, Casula M, Dessole S, Pintus A, Tanda F, Palmieri G. (2002). Microsatellite instability and mutation analysis of candidate genes in unselected Sardinian patients with endometrial carcinoma. Cancer 94, 3157-3168.

  257. Phillips HM, Renforth GL, Spalluto C, Hearn T, Curtis AR, Craven L, Havarani B, Clement-Jones M, English C, Stumper O, Salmon T, Hutchinson S, Jackson MS, Wilson DI. (2002). Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis. Genomics 79, 475-478.

  258. Dermaut B, Theuns J, Sleegers K, Hasegawa H, Van den Broeck M, Vennekens K, Corsmit E, St George-Hyslop P, Cruts M, van Duijn CM, Van Broeckhoven C. (2002). The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample. Am. J. Hum. Genet. 70, 1568-1574.

  259. 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.

  260. Lichtner P, Attie-Bitach T, Schuffenhauer S, Henwood J, Bouvagnet P, Scambler PJ, Meitinger T, Vekemans M. (2002). Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p. J. Mol. Med. 80, 431-442.

  261. Brown VL, Proby CM, Barnes DM, Kelsell DP. (2002). Lack of mutations within ST7 gene in tumour-derived cell lines and primary epithelial tumours. Br. J. Cancer 87, 208-211.

  262. Sossey-Alaoui K, Kitamura E, Head K, Cowell JK. (2002). Characterization of FAM10A4, a member of the ST13 tumor suppressor gene family that maps to the 13q14.3 region associated with B-cell leukemia, multiple myeloma, and prostate cancer. Genomics 80, 5-7.

  263. Ackerman MJ, VanDriest SL, Ommen SR, Will ML, Nishimura RA, Tajik AJ, Gersh BJ. (2002). Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. J. Am. Coll. Cardiol. 39, 2042-2048.

  264. De la Cruz JM, Bamford RN, Burdine RD, Roessler E, Barkovich AJ, Donnai D, Schier AF, Muenke M. (2002). A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Hum. Genet. 110, 422-429.

  265. Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, Jones I, Chalmers J, Campbell H. (2002). National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J. Med. Genet. 39, 16-22.

  266. Smith G, Carey FA, Beattie J, Wilkie MJ, Lightfoot TJ, Coxhead J, Garner RC, Steele RJ, Wolf CR. (2002). Mutations in APC, Kirsten-ras, and p53--alternative genetic pathways to colorectal cancer. Proc. Natl. Acad.