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DHPLC Publication List (chronological order)

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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

 

 
2001
  1. Huber, C.G., Premstaller, A., Xiao, W., Oberacher, H., Bonn, G.K., Oefner, P.J. (2001) Mutation detection by capillary denaturing high-performance liquid chromatography using monolithic columns. J Biochem. Biophys. Meth. Jan;47(1-2):5-19

  2. Kristensen VN, Kelefiotis D, Kristensen T, Borresen-Dale AL. (2001) High-throughput methods for detection of genetic variation. Biotechniques 2001, 30(2):318-22, 324, 326

  3. Nickerson ML, Warren MB, Zbar B, Schmidt LS. (2001) Random mutagenesis-PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods. Hum Mutat., 17(3):210-9

  4. Jones AC, Sampson JR, Cheadle JP. (2001) Low level mosaicism detectable by DHPLC but not by direct sequencing. Hum Mutat., 17(3):233-4

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

  6. Narayanaswami G, Taylor PD. (2001) Improved efficiency of mutation detection by denaturing high-performance liquid chromatography using modified primers and hybridization procedure. Genet Test. Spring;5(1):9-16.

  7. Lipsky, R.H., Mazzanti, C.M., Rudolph, J.G., Xu, K., Vyas, G., Bozak, D., Radel, M.Q., and Goldman, D. (2001). DNA melting analysis for detection of single nucleotide polymorphisms. Clin. Chem. 47, 635-644.

  8. Xiao, W., and Oefner, P.J. (2001) Denaturing high-performance liquid chromatography: A review. Hum. Mutat. 17:439-474.

  9. 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

  10. 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.

  11. Shi J, Yang S, Jiang Z, Jiang H, Chen T, Chen Z, Huang W. (2001) Comparison of denaturing high performance liquid chromatography with direct sequencing in the detection of single nucleotide polymorphism Zhonghua Yi Xue Yi Chuan Xue Za Zhi. Jun;18(3):198-201.

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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.

  24. 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.

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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.

  31. 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

  32. 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

  33. 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

  34. 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

  35. 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.

  36. 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

  37. 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.

  38. 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.

  39. 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.

  40. 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.

  41. 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.

  42. 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.

  43. 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

  44. 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.

  45. 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.

  46. 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.

  47. 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.

  48. 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.

  49. 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.

  50. 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.

  51. 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.

  52. 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.

  53. 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

  54. Jones AC, Sampson JR, Cheadle JP. (2001) Low level mosaicism detectable by DHPLC but not by direct sequencing. Hum Mutat., 17(3):233-4

  55. Dabora, S.L., Jozwiak, S., Franz, D.N., Roberts, P.S., Nieto, A., Chung, J., Choy, Y.S., Reeve, M.P., Thiele, E., Egelhoff, J.C., Kasprzyk-Obara, J., Domanska-Pakiela, D., and Kwiatkowski, D.J. (2001). Mutational Analysis in a cohort of 224 Tuberous Sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am. J. Hum. Genet. 68, 64-80.

  56. Hoskins RA, Phan AC, Naeemuddin M, Mapa FA, Ruddy DA, Ryan JJ, Young LM, Wells T, Kopczynski C, Ellis MC. (2001) Single Nucleotide Polymorphism Markers for Genetic Mapping in Drosophila melanogaster. Genome Res. 2001 Jun;11(6):1100-13.

  57. Colbert, T., Till, B.J., Tompa, R., Reynolds, S., Steine, M.N., Yeung, A.T., McCallum, C.M., Comai, L., and Henikoff, S. (2001). High-throughput screening for induced point mutations. Plant Phisiol. 126, 480-484.

  58. Ke Y, Su B, Song X, Lu D, Chen L, Li H, Qi C, Marzuki S, Deka R, Underhill P, Xiao C, Shriver M, Lell J, Wallace D, Wells RS, Seielstad M, Oefner P, Zhu D, Jin J, Huang W, Chakraborty R, Chen Z, Jin L. (2001) African origin of modern humans in East Asia: a tale of 12,000 Y chromosomes. Science. May 11;292(5519):1151-3.

  59. Underhill PA, Passarino G, Lin AA, Shen P, Mirazon Lahr M, Foley RA, Oefner PJ, Cavalli-Sforza LL. (2001) The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann Hum Genet. Jan;65(Pt 1):43-62.

  60. Bosch, E., Calafell, F., Comas, D., Oefner, P.J., Underhill, P.A., and Betranpetit, J. (2001). High-resolution analysis of human Y-chromosome variation shows a sharp discontinuity and limited gene flow between northwestern Africa and the Iberian peninsula. Am. J. Hum. Genet. 68, 1019-1029.

  61. Richards, M. and Macaulay, V. (2001). The mitochondrial gene tree comes of age. Am. J. Hum. Genet. 68, 1315-1320.

  62. Underhill, P.A., Passarino, G., Lin, A.A., Marzuki, S., Oefner, P.J., Cavalli-Sforza, L.L., and Chambers, G.K. (2001). Maori origins, Y-chromosome haplotypes and implications for human history in the Pacific. Hum. Mutat. 17, 271-280.

  63. Giordano, M., Mellai, B., Hoogendoorn, B., Momigliano-Richiardi, P. (2001) Determination of SNP allele frequencies in pooled DNAs by primer extension genotyping and denaturing high-performance liquid chromatography. J Biochem. Biophys. Meth. Jan;47(1-2):101-110

  64. Kosaki, K., Yoshibashi, H., Ohashi, Y., Kosaki, R., Suzuki, T., Matsuo, N. (2001) FLuorescence-based DHPLC for allelic quantification by single-nucleotide primer extension. J Biochem. Biophys. Meth. Jan;47(1-2):111-119

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

  66. Azarani, A., and Hecker, K.H. (2001). RNA analysis by ion-pair reversed-phase high performance liquid chromatoraphy. Nucleic Acids Res. 29, e7.

  67. Baumer A, Wiedemann U, Hergersberg M, Schinzel A. (2001) A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms. Hum. Mutat. 17(5):423-430.

  68. Butler, J.M., Devaney, J.M., Marino, M.A., and Vallone, P.M. (2001). Quality control of PCR primers used in multiplex STR amplification reactions. Forensic Sci. Int. 119, 87-96.

  69. Shi, M.M. (2001). Enabling large-scale pharmacogenetic studies by high-throughput mutation detection and genotyping technologies. Clin. Chem. 47, 164-172.

  70. Shinka T, Naroda T, Tamura T, Sasahara K, Nakahori Y. (2001) A rapid and simple method for sex identification by heteroduplex analysis, using denaturing high-performance liquid chromatography (DHPLC). J Hum Genet. ;46(5):263-6.

  71. Baumer A, Wiedemann U, Hergersberg M, Schinzel A. (2001) A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms. Hum Mutat. May;17(5):423-30

  72. 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.

  73. Liang Q, Davis PA, Thompson BH, Simpson JT. (2001) High-performance liquid chromatography multiplex detection of two single nucleotide mutations associated with hereditary hemochromatosis. J Chromatogr B Biomed Sci Appl Apr 15;754(1):265-270

  74. Devaney JM, Pettit EL, Kaler SG, Vallone PM, Butler JM, Marino MA. (2001) Genotyping of two mutations in the HFE gene using single-base extension and high-performance liquid chromatography. Anal Chem Feb 1;73(3):620-624

  75. 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.

  76. 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.

  77. 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.

  78. 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.

  79. 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.

  80. 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.

  81. 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.

  82. 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.

  83. 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.

  84. Kota R, Wolf M, Michalek W, Graner A. (2001) Application of denaturing high-performance liquid chromatography for mapping of single nucleotide polymorphisms in barley (Hordeum vulgare L.). Genome. Aug;44(4):523-8.

  85. 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

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

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

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

  89. 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

  90. Kirov G, Lowry CA, Stephens M, Oldfield S, O'Donovan MC, Lightman SL, Owen MJ. (2001) Screening ABCG1, the human homologue of the Drosophila white gene, for polymorphisms and association with bipolar affective disorder. Mol Psychiatry. Nov;6(6):671-7.

  91. 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. Nov;47(11):2003-11

  92. Premstaller A, Xiao W, Oberacher H, O'Keefe M, Stern D, Willis T, Huber C.G., and Oefner P.J. (2001) Temperature-Modulated Array High-Performance Liquid Chromatography Genome Res. 11: 1944-1951

  93. 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

  94. 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

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

  96. Tang, H., Siegmund, D., Shen, P., Oefner, P., Feldman, M. (2001) Estimation of time to the most recent common ancestor by tree-partition. Am. J. Hum. Genet. 69 [Suppl.], 394

  97. Shen, P., Tang, H., Passarino, P., Do, B., Sung, R., Davis, K., Scharfe, C., Cavalli-Sforza, L.L., Feldman, M.W., Oefner, P.J. (2001) Parallels and contrasts in female and male human evolutionary history. Am. J. Hum. Genet. 69 [Suppl.], 423

  98. Wayne, T.L., Thorstenson, Y.R., Oefner, P.J. (2001) Interspecies comparisons of the ATM gene. Am. J. Hum. Genet. 69 [Suppl.], 542

  99. 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.

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

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

  102. 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. Detection of AGXT bgene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxaluria type 1. Clin Exp Med. 2001 Jun;1(2):99-104.

  103. Larsen LA, Christiansen M, Vuust J, Andersen PS. (2001) Recent developments in high-throughput mutation screening. Pharmacogenomics. Nov;2(4):387-99.

  104. Oberacher H, Parson W, Muhlmann R, Huber CG. Analysis of polymerase chain reaction products by on-line liquid chromatography-mass spectrometry for genotyping of polymorphic short tandem repeat loci. Anal Chem. 2001 Nov 1;73(21):5109-15

  105. 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.

  106. 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.

  107. 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.

  108. 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.

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  112. 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.

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  116. 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.

  117. 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.

  118. 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.

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  121. 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.

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  123. 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.

  124. 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.

  125. 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.

  126. 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.

  127. 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.

  128. 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.

  129. 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.

  130. 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.

  131. 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.

  132. 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.

  133. 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.

  134. 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. 

  135. 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.

  136. Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, Colby TV, Kwiatkowski DJ, McCormack FX. (2001). Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am. J. Respir. Crit. Care Med. 164, 661-668.

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

  138. Shimomura K, Low-Zeddies SS, King DP, Steeves TD, Whiteley A, Kushla J, Zemenides PD, Lin A, Vitaterna MH, Churchill GA, Takahashi JS. (2001). Genome-wide epistatic interaction analysis reveals complex genetic determinants of circadian behavior in mice. Genome Res. 11, 959-80.

  139. Johnson, G.C., Esposito, L., Barratt, B.J., Smith, A.N., Heward, J., Di Genova, G., Ueda, H., Cordell, H.J., Eaves, I.A., Dudbridge, F., Twells, R.C., Payne, F., Hughes, W., Nutland, S., Stevens, H., Carr, P., Tuomilehto-Wolf, E., Tuomilehto, J., Gough, S.C., Clayton, D.G., Todd, J.A. (2001). Haplotype tagging for the identification of common disease genes. Nat. Genet. 29, 1-5. 

  140. Deng D, Deng G, Lu Y. (2001) [Analysis of the methylation in CpG island by denaturing high-performance liquid chromatography] Zhonghua Yi Xue Za Zhi. 2001 Feb 10;81(3):158-61. Chinese.

  141. 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.

  142. 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.

  143. 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

  144. 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.

  145. 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.

  146. 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.

  147. 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.

  148. 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.

  149. 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.

  150. 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.

  151. 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.

  152. 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.

  153. 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.

  154. Roccatello D, Obert R, Sena GM, Longa L, Rossi D, Grosso E, Cavallo R, Sena LM, Giachino O, Migone N. (2001).Treatment of the pulmonary involvement in the patient with tuberous sclerosis complex. Contrib. Nephrol. 136, 292-298.

  155. 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.

  156. 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.

  157. 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.

  158. 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.

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

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