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DHPLC Publication List (chronological order)

The DHPLC publication list is also available sorted by categories



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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).

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  1. Deng D, Deng G, Smith MF, Zhou J, Xin H, Powell SM, Lu Y. (2002) Simultaneous detection of CpG methylation and single nucleotide polymorphism by denaturing high performance liquid chromatography. Nucleic Acids Res. Feb 1;30(3):E13-3.

  2. Cobb CJ, Scott G, Swingler RJ, Wilson S, Ellis J, MacEwen CJ, McLean WH. (2002) Related Articles 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.

  3. 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.

  4. 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

  5. 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

  6. 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

  7. 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.

  8. Premstaller, A., Oefner, P. J. (2002) New Trends in DHPLC. American Genomic/Proteomic Technology, 2; 27-29.

  9. 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.

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

  11. 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.

  12. 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.

  13. 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.

  14. Coghill EL, Hugill A, Parkinson N, Davison C, Glenister P, Clements S, Hunter J, Cox RD, Brown SD. (2002) A gene-driven approach to the identification of ENU mutants in the mouse. Nat Genet.Mar;30(3):255-6.

  15. Rickert A.M., Premstaller A., Gebhardt Ch., Oefner P.J. (2002) Genotyping of SNPs in a Polyploid Genome by Pyrosequencing™. BioTechniques 32:592-603.

  16. Cooksey RC, Morlock GP, Holloway BP, Limor J, and Hepburn M. (2002) Temperature-mediated heteroduplex analysis performed by using denaturing high-performance liquid chromatography to identify sequence polymorphisms in Mycobacterium tuberculosis complex organisms. J Clin Microbiol.; May (5);1610-1616.

  17. 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.

  18. 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.

  19. 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.

  20. Matin MM, Andrews PW, Hornby DP. (2002) Multidimensional Differential Display via Ion-Pair Reversed-Phase Denaturing High Performance Liquid Chromatography. Anal Biochem. May 1;304(1):47-54.

  21. Gjerde DT, Hanna CP, Hornby D. (2002). DNA Chromatography. Wiley-VCH, Weinheim, Germany.

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

  23. Dickman MJ, Conroy MJ, Grasby JA, Hornby DP. (2002) RNA footprinting analysis using ion pair reverse phase liquid chromatography. RNA Feb;8(2):247-251

  24. Dickman MJ, Matin MM, Hornby DP. (2002) High-throughput analysis of nucleic acid modification reactions using ion-pair reverse-phase high-performance liquid chromatography. Anal Biochem Feb 15;301(2):290-7

  25. 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.

  26. 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.

  27. 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.

  28. Premstaller A, Oberacher H, Rickert A, Huber CG, Oefner PJ. (2002) Multiplex analysis of single-nucleotide extension products on a 16-capillary, denaturing, high-performance liquid chromatography array. Genomics. Jun;79(6):793-8.

  29. 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.

  30. 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.

  31. 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.

  32. 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.

  33. 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.

  34. 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.

  35. Dickman MJ, Matin MM, Hornby DP. (2002) High-throughput analysis of nucleic acid modification reactions using ion-pair reverse-phase high-performance liquid chromatography. Anal Biochem. 2002 Feb 15;301(2):290-7.

  36. Ingleston SM, Dickman MJ, Grasby JA, Hornby DP, Sharples GJ, Lloyd RG. (2002) Holliday junction binding and processing by the RuvA protein of Mycoplasma pneumoniae. Eur J Biochem. Mar;269(5):1525-1533.

  37. Dickman MJ, Conroy MJ, Grasby JA, Hornby DP. (2002) RNA footprinting analysis using ion pair reverse phase liquid chromatography. RNA. Feb;8(2):247-51.

  38. Premstaller, A., Oefner, P.J. (2002) Denaturing high performance liquid chromatography of nucleic acids. LC&GC 15 (7), 410-422.

  39. El-Maarri, O., Herbiniaux, U., Walter, J., Oldenburg, J. (2002). A rapid, quantitative, non-radioactive bisulfite-SNuPE- IP RP HPLC assay for methylation analysis at specific CpG sites. Nucleic Acids Res. 30, e25.

  40. Leerkes, M.R., Caballero, O.L., Mackay, A., Torloni, H., O'Hare, M.J., Simpson, A.J.G., de Souza, S.J. (2002). In silico comparison of the transcriptome derived from purified normal breast cells and breast tumor cell lines reveals candidate upregulated genes in breast tumor cells. Genomics 79, 257-265.

  41. Perez-Perez FJ, Hanson ND. (2002). Detection of plasmid-mediated AmpC beta-lactamase genes in clinical isolates by using multiplex PCR. Clin. Microbiol. 40, 2153-2162.

  42. Cooksey RC, Morlock GP, Holloway BP, Limor J, Hepburn M. (2002). Temperature-mediated heteroduplex analysis performed by using denaturing high-performance liquid chromatography to identify sequence polymorphisms in Mycobacterium tuberculosis complex organisms. J. Clin. Microbiol. 40, 1610-1616.

  43. 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.

  44. 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.

  45. 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.

  46. 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.

  47. 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.

  48. 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.

  49. 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.

  50. 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.

  51. 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.

  52. 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.

  53. 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.

  54. 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.

  55. 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.

  56. 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.

  57. 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. 

  58. 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.

  59. 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.

  60. 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.

  61. 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.

  62. 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.

  63. 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.

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

  65. 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.

  66. 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.

  67. 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.

  68. 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.

  69. 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). May;115(5):677-80.

  70. El-Maarri O, Herbiniaux U, Walter J, Oldenburg J. (2002) A rapid, quantitative, non-radioactive bisulfite-SNuPE- IP RP HPLC assay for methylation analysis at specific CpG sites. Nucleic Acids Res. 2002 Mar 15;30(6):e25.

  71. Nairz K, Stocker H, Schindelholz B, Hafen E. (2002). High-resolution SNP mapping by denaturing HPLC. Proc. Natl. Acad. Sci. 99, 10575-10580.

  72. 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.

  73. Frusconi S, Passerini I, Girolami F, Masieri M, Linari S, Longo G, Morfini M, Torricelli F. (2002) Identification of seven novel mutations of F8C by DHPLC. Hum Mutat.Sep;20(3):231-2.

  74. 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.

  75. 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.

  76. 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.

  77. 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.

  78. 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.

  79. 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.

  80. 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.

  81. 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.

  82. 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.

  83. 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. Sci. 99, 9433-9438. 

  84. Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T. (2002) PTPN11 (Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan Syndrome. J Clin Endocrinol Metab. 2002 Aug;87(8):3529-33.

  85. Hegde M, Lewis RA, Richards CS. (2002) Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol. Genet Test. Spring;6(1):7-14.

  86. Bogdanova N, Markoff A, Pollmann H, Nowak-Gottl U, Eisert R, Dworniczak B, Eigel A, Horst J. (2002) Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A. Hum Mutat. Sep;20(3):236-7.

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

  88. Frusconi S, Passerini I, Girolami F, Masieri M, Linari S, Longo G, Morfini M, Torricelli F. (2002) Identification of seven novel mutations of F8C by DHPLC. Hum Mutat.Sep;20(3):231-2.

  89. Shen P, Buchholz M, Sung R, Roxas A, Franco C, Yang WH, Jagadeesan R, Davis K, Oefner PJ. (2002) Population genetic implications from DNA polymorphism in random human genomic sequences. Hum Mutat. Sep;20(3):209-217.

  90. Yoshida N, Nishimaki Y, Sugiyama M, Abe T, Tatsumi T, Tanoue A, Hirasawa A, Tsujimoto G. (2002) SNP genotyping in the beta(2)-adrenergic receptor by electronic microchip assay, DHPLC, and direct sequencing. J Hum Genet.;47(9):500-3.

  91. Edmunds SC, Kelsell DP, Hungerford JL, Cree IA. (2002) Mutational analysis of selected genes in the TGFbeta, Wnt, pRb, and p53 pathways in primary uveal melanoma. Invest Ophthalmol Vis Sci. Sep;43(9):2845-51.

  92. Hurtle W, Shoemaker D, Henchal E, Norwood D. (2002) Denaturing HPLC for identifying bacteria. Biotechniques.Aug;33(2):386-8, 390-1.

  93. Gorlov IP, Kamat A, Bogatcheva NV, Jones E, Lamb DJ, Truong A, Bishop CE, McElreavey K, Agoulnik AI. (2002) Mutations of the GREAT gene cause cryptorchidism. Hum Mol Genet. Sep 15;11(19):2309-2318.

  94. Weirich G, Cabras A, Serra S, Coni P, Nurchi A, Faa G, Hofler H. (2002). Rapid Identification of Wilson's Disease Carriers by Denaturing High-Performance Liquid Chromatography. Prev. Med. 35, 278-284.

  95. Gavert N, Yaron Y, Naiman T, Bercovich D, Rozen P, Shomrat R, Legum C, Orr-Urtreger A. (2002). Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations. Hum. Mutat. 19, 664.

  96. Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP. (2002). PTPN11 mutations in LEOPARD syndrome. J. Med. Genet. 39, 571-574.

  97. Taniguchi K, Roberts LR, Aderca IN, Dong X, Qian C, Murphy LM, Nagorney DM, Burgart LJ, Roche PC, Smith DI, Ross JA, Liu W. (2002). Mutational spectrum of beta-catenin, AXIN1, and AXIN2 in hepatocellular carcinomas and hepatoblastomas. Oncogene 21, 4863-4871.

  98. Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. (2002). PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am. J. Hum. Genet. 70, 1555-1563.

  99. Lam CW, Leung CY, Lee KC, Xie J, Lo FM, Au TS, Tong SF, Poon MK, Chan LY, Luk NM. (2002). Novel mutations in the PATCHED gene in basal cell nevus syndrome. Mol. Genet. Metab. 76, 57-61.

  100. Venken K, Di Maria E, Bellone E, Balestra P, Cassandrini D, Mandich P, De Jonghe P, Timmerman V, Svaren J. (2002). Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies. Neurogenetics 4, 37-41.

  101. Varon R, Gosse-Brun S, Bignon YJ, Sperling K, Uhrhammer N. (2002). Nijmegen breakage syndrome gene (NBS1) is not the tumor suppressor gene at 8q21.3 involved in colorectal carcinoma. Oncol. Rep. 9, 709-711

  102. Gallo A, Thomson E, Brindle J, O'Connell MA, Keegan LP. (2002) Micro-processing events in mRNAs identified by DHPLC analysis.Nucleic Acids Res. Sep 15;30(18):3945-53.

  103. Zhu W, Zou H, Beck A, Chervinsky D, Malik D, Brooks J, Tan D. (2002). Loss of heterozygosity in primary lung cancer using laser capture microdissection and WAVE DNA fragment analysis techniques. Med Sci Monit 8, BR95-99.

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