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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

 

 
2002
  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.

  104. Gallo A, Thomson E, Brindle J, O'Connell MA, Keegan LP. (2002). Micro-processing events in mRNAs identified by DHPLC analysis. Nucleic Acids Res 30:3945-3953.

  105. Sevilla C, Moatti JP, Julian-Reynier C, Eisinger F, Stoppa-Lyonnet D, Bressac-De Paillerets B, Sobol H. (2002). Testing for BRCA1 mutations: a cost-effectiveness analysis. Eur J Hum Genet. Oct;10(10):599-606.

  106. Shields DC, Fitzgerald AP, O'Neill PA, Muckian C, Kenny D, Moran B, Cannon CP, Byrne CE, Fitzgerald DJ. (2002). The contribution of genetic factors to thrombotic and bleeding outcomes in coronary patients randomised to IIb/IIIa antagonists. Pharmacogenomics J 2, 182-190.

  107. Shlush LI, Behar DM, Zelazny A, Keller N, Lupski JR, Beaudet AL, Bercovich D. (2002). Molecular Epidemiological Analysis of the Changing Nature of a Meningococcal Outbreak following a Vaccination Campaign. J Clin Microbiol 40:3565-3571.

  108. Dode C, Andre M, Bienvenu T, Hausfater P, Pecheux C, Bienvenu J, Lecron JC, Reinert P, Cattan D, Piette JC, Szajnert MF, Delpech M, Grateau G; French Heraditary Recurrent Inflammatory Disorder Study Group. (2002). The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis & Rheumatism 46, 2181-2188.

  109. Su Z, Zhang S, Nebert DW, Zhang L, Huang D, Hou Y, Liao L, Xiao C. (2002). A novel allele in the promoter of the hepatic lipase is associated with increased concentration of HDL-C and decreased promoter activity. J Lipid Res 43:1595-1601.

  110. Schollen E, Martens K, Geuzens E, Matthijs G. (2002). DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). Eur J Hum Genet 10:643-648.

  111. Hanein S, Perrault I, Olsen P, Lopponen T, Hietala M, Gerber S, Jeanpierre M, Barbet F, Ducroq D, Hakiki S, Munnich A, Rozet JM, Kaplan J. (2002). Evidence of a founder effect for the RETGC1 (GUCY2D) 2943delG mutation in Leber congenital amaurosis pedigrees of Finnish origin. Hum Mutat. 2002 Oct;20(4):322-3

  112. Yaron Y, Zeev BB, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A. (2002). MECP2 mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. Hum Mutat. 2002 Oct;20(4):323-4

  113. Lie BA, Akselsen HE, Bowlus CL, Gruen JR, Thorsby E, Undlien DE. (2002). Polymorphisms in the gene encoding thymus-specific serine protease in the extended HLA complex: a potential candidate gene for autoimmune and HLA-associated diseases. Genes Immun. 3, 306-312.

  114. Bray NJ, Kirov G, Owen RJ, Jacobsen NJ, Georgieva L, Williams HJ, Norton N, Spurlock G, Jones S, Zammit S, O'Donovan MC, Owen MJ. (2002). Screening the human protcadherin 8 (PCDH8) gene in schizophrenia. Genes, Brain and Behavior 1, 187-191.

  115. Audrezet MP, Chen JM, Le Marechal C, Ruszniewski P, Robaszkiewicz M, Raguenes O, Quere I, Scotet V, Ferec C. (2002). Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis. Eur J Hum Genet 10:100-106.

  116. Lynch RA, Wagoner L, Li S, Sparks L, Molkentin J, Dorn GW 2nd. (2002). Novel and nondetected human signaling protein polymorphisms. Physiol Genomics 10, 159-168.

  117. Roberts PS, Chung J, Jozwiak S, Dabora SL, Franz DN, Thiele EA, Kwiatkowski DJ. (2002). SNP identification, haplotype analysis, and parental origin of mutations in TSC2. Hum Genet 111:96-101.

  118. Fields RR, Zhou G, Huang D, Davis JR, Moller C, Jacobson SG, Kimberling WJ, Sumegi J. (2002). Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations. Am J Hum Genet 71:607-617.

  119. Jones I, Jacobsen N, Green EK, Elvidge GP, Owen MJ, Craddock N. (2002). Evidence for familial cosegregation of major affective disorder and genetic markers flanking the gene for Darier's disease. Mol Psychiatry 7:424-427.

  120. Pallares-Ruiz N, Blanchet P, Mondain M, Claustres M, Roux AF. (2002). A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Eur J Hum Genet 10:72-76.

  121. Devaney JM, Donarum EA, Brown KM, Meyer J, Stober G, Lesch KP, Nestadt G, Stephan DA, Pulver AE. (2002). No missense mutation of WKL1 in a subgroup of probands with schizophrenia. Mol Psychiatry 7:419-423.

  122. Bepler G, Gautam A, McIntyre LM, Beck AF, Chervinsky DS, Kim YC, Pitterle DM, Hyland A. (2002). Prognostic significance of molecular genetic aberrations on chromosome segment 11p15.5 in non-small-cell lung cancer. J Clin Oncol 20, 1353-1360.

  123. Nishioka M, Kohno T, Tani M, Yanaihara N, Tomizawa Y, Otsuka A, Sasaki S, Kobayashi K, Niki T, Maeshima A, Sekido Y, Minna JD, Sone S, Yokota J. (2002). MYO18B, a candidate tumor suppressor gene at chromosome 22q12.1, deleted, mutated, and methylated in human lung cancer. Proc. Natl. Acad. Sci. 99, 12269-12274.

  124. 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.

  125. Sossey-Alaoui K, Su G, Malaj E, Roe B, Cowell JK. (2002). WAVE3, an actin-polymerization gene, is truncated and inactivated as a result of a constitutional t(1;13)(q21;q12) chromosome translocation in a patient with ganglioneuroblastoma. Oncogene 21, 5967-5974.

  126. Anney RJ, Rees MI, Bryan E, Spurlock G, Williams N, Norton N, Williams H, Cardno A, Zammit S, Jones S, Jones G, Hoogendoorn B, Smith K, Hamshere ML, Coleman S, Guy C, O'Donovan MC, Owen MJ, Buckland PR. (2002). Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia. Mol. Psychiatry 7, 493-502.

  127. Bonora E, Bacchelli E, Levy ER, Blasi F, Marlow A, Monaco AP, Maestrini E; International Molecular Genetic Study of Autism Consortium (IMGSAC). (2002). Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region. Mol. Psychiatry 7, 289-301.

  128. Williams NM, Bowen T, Spurlock G, Norton N, Williams HJ, Hoogendoorn B, Owen MJ, O'Donovan MC. (2002). Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor. Mol. Psychiatry 7, 508-514.

  129. Rudolph G, Kalpadakis P, Haritoglou C, Rivera A, Weber BH. (2002). Mutations in the ABCA4 Gene in a Family With Stargardt's Disease and Retinitis Pigmentosa (STGD1/RP19). Klin Monatsbl Augenheilkd 219:590-596.

  130. Marchant D, Gogat K, Dureau P, Sainton K, Sternberg C, Gadin S, Dollfus H, Brasseur G, Hache J, Dumur V, Puech V, Munier F, Schorderet D, Marsac C, Menasche M, Dufier J, Abitbol M. (2002). Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy. Ophthalmic Genet 23:167-174

  131. Challa P, Herndon LW, Hauser MA, Broomer BW, Pericak-Vance MA, Ababio-Danso B, Allingham RR. (2002). Prevalence of Myocilin Mutations in Adults with Primary Open-angle Glaucoma in Ghana, West Africa. J Glaucoma 11:416-420.

  132. Ion A, Tartaglia M, Song X, Kalidas K, Van Der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S. (2002) Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Hum Genet. Oct;111(4-5):421-7.

  133. Huang H, Zhou YF, Jiang PZ, Shen XM, Yao KT. (2002) Screening of single nucleotide polymorphisms in nasopharyngeal carcinoma associated genes by denaturing high-performance liquid chromatography. Di Yi Jun Yi Da Xue Xue Bao. Jul;22(7):602-4.

  134. Bernassola F, Federici M, Corazzari M, Terrinoni A, Hribal ML, De Laurenzi V, Ranalli M, Massa O, Sesti G, McLean WH, Citro G, Barbetti F, Melino G. (2002). Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient. FASEB J 16, 1371-1378.

  135. Raevaara TE, Timoharju T, Lonnqvist KE, Kariola R, Steinhoff M, Hofstra RM, Mangold E, Vos YJ, Nystrom-Lahti M. (2002). Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer. J. Med. Genet. 39, 747-750.

  136. Hamaguchi M, Meth JL, Von Klitzing C, Wei W, Esposito D, Rodgers L, Walsh T, Welcsh P, King MC, Wigler MH. (2002). DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc. Natl. Acad. Sci. 99, 13647-13652.

  137. Donn R, Alourfi Z, De Benedetti F, Meazza C, Zeggini E, Lunt M, Stevens A, Shelley E, Lamb R, Ollier WE, Thomson W, Ray D. (2002). Mutation screening of the macrophage migration inhibitory factor gene: Positive association of a functional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritis. Arthritis & Rheumatism 46, 2402-2409.

  138. Rennert H, Bercovich D, Hubert A, Abeliovich D, Rozovsky U, Bar-Shira A, Soloviov S, Schreiber L, Matzkin H, Rennert G, Kadouri L, Peretz T, Yaron Y, Orr-Urtreger A. (2002). A Novel Founder Mutation in the RNASEL Gene, 471delAAAG, Is Associated with Prostate Cancer in Ashkenazi Jews. Am. J. Hum. Genet. 71, 981-984.

  139. Halliday DJ, Hutchinson S, Lonie L, Hurst JA, Firth H, Handford PA, Wordsworth P. (2002). Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. J. Med. Genet. 39, 589-593.

  140. Jongbloed R, Marcelis C, Velter C, Doevendans P, Geraedts J, Smeets H. (2002) DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 Nov;20(5):382-91.

  141. Hannachi-M'Zali F, Ambler JE, Taylor CF, Hawkey PM. (2002). Examination of single and multiple mutations involved in resistance to quinolones in Staphylococcus aureus by a combination of PCR and denaturing high-performance liquid chromatography (DHPLC). J Antimicrob Chemother 50(5):649-655.

  142. Bodamer OA, Bercovich D, Schlabach M, Ballantyne C, Zoch D, Beaudet AL. (2002) Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Clin Chem 48:1913-1918.

  143. Pfeiffer RM, Bura E, Smith A, Rutter JL. (2002). Two approaches to mutation detection based on functional data. Stat Med 21(22):3447-3464.

  144. Sutomo R, Akutsu T, Takeshima Y, Nishio H, Sadewa AH, Harada Y, Matsuo M. (2002). Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy. Am J Med Genet 113(2):225-226.

  145. Beyer KS, Blasi F, Bacchelli E, Klauck SM, Maestrini E, Poustka A. (2002). Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Hum Genet 111:305-309.

  146. Osterlund MT, Paterson AH. (2002). Applied plant genomics: the secret is integration. Curr. Opin. Plant Biol. 5, 141-145.

  147. Jander G, Norris SR, Rounsley SD, Bush DF, Levin IM, Last RL. (2002). Arabidopsis map-based cloning in the post-genome era. Plant Physiol 129:440-450.

  148. Bahrami AR, Dickman MJ, Matin MM, Ashby JR, Brown PE, Conroy MJ, Fowler GJ, Rose JP, Sheikh QI, Yeung AT, Hornby DP. (2002) Use of fluorescent DNA-intercalating dyes in the analysis of DNA via ion-pair reversed-phase denaturing high-performance liquid chromatography. Anal Biochem. Oct 15;309(2):248-52.

  149. Weirich G, Klein B, Wohl T, Engelhardt D, Brauch H. (2002) VHL2C Phenotype in a German von Hippel-Lindau Family with Concurrent VHL Germline Mutations P81S and L188V. J Clin Endocrinol Metab.Nov;87(11):5241-5246.

  150. Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupre N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Nemeth A, Monaco. (2002). Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur. J. Hum. Genet. 10, 773-781.

  151. Johnson GC, Payne F, Nutland S, Stevens H, Tuomilehto-Wolf E, Tuomilehto J, Todd JA. (2002). A comprehensive, statistically powered analysis of GAD2 in type 1 diabetes. Diabetes 51, 2866-2870.

  152. Farook VS, Hanson RL, Wolford JK, Bogardus C, Prochazka M. (2002). Molecular Analysis of KCNJ10 on 1q as a Candidate Gene for Type 2 Diabetes in Pima Indians. Diabetes 51:3342-3346.

  153. Turner KJ, Moore JW, Jones A, Taylor CF, Cuthbert-Heavens D, Han C, Leek RD, Gatter KC, Maxwell PH, Ratcliffe PJ, Cranston D, Harris AL. (2002). Expression of hypoxia-inducible factors in human renal cancer: relationship to angiogenesis and to the von Hippel-Lindau gene mutation. Cancer Res 62:2957-2961.

  154. Wu FF, Ryan A, Devaney J, Warnstedt M, Korade-Mirnics Z, Poser B, Escriva MJ, Pegoraro E, Yee AS, Felice KJ, Giuliani MJ, Mayer RF, Mongini T, Palmucci L, Marino M, Rudel R, Hoffman EP, Fahlke C. (2002). Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain 125:2392-2407.

  155. Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, Hodges AK, Davies DR, David SS, Sampson JR, Cheadle JP. (2002) Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. Nat Genet. Feb;30(2):227-32.

  156. Ross JL, Scott C Jr, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR. (2002). Phenotypes Associated with SHOX Deficiency. J. Clin. Endocrinol. Metab. 86, 5674-5680.

  157. Vasseur F, Helbecque N, Dina C, Lobbens S, Delannoy V, Gaget S, Boutin P, Vaxillaire M, Lepretre F, Dupont S, Hara K, Clement K, Bihain B, Kadowaki T, Froguel P. (2002). Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians. Hum. Mol. Genet. 11, 2607-2614.

  158. Jones S, Emmerson P, Maynard J, Best JM, Jordan S, Williams GT, Sampson JR, Cheadle JP. (2002). Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. Hum. Mol. Genet. 11, 2961-2967.

  159. Prueitt RL, Chen H, Barnes RI, Zinn AR. (2002). Most X; autosome translocations associated with premature ovarian failure do not interrupt X-linked genes. Cytogenet. Genome Res. 97, 32-38.

  160. Gorospe JR, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP. (2002). Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neuorology 58, 1494-1500.

  161. Wilkie H, Osei-Lah A, Chioza B, Nashef L, McCormick D, Asherson P, Makoff AJ. (2002).Association of micro -opioid receptor subunit gene and idiopathic generalized epilepsy. Neuorology 59, 724-728.

  162. Matin MM, Baumer A, Hornby DP. (2002). An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC. Hum. Mutat. 20, 305-311.

  163. Mazzei R, Conforti FL, Muglia M, Sprovieri T, Magariello A, Patitucci A, Gabriele AL, Quattrone A. (2002). A simple method to confirm diagnosis of autosomal recessive Spinal Muscular atrophy by Denaturing High Performance Liquid Chromatography (DHPLC). Am J Hum Genet 71 (Suppl):518.

  164. Christodoulou J, Biggin A, Thorburn DR, Bennetts B. (2002). Mutation scanning of the mitochondrial genome using denaturing high-performance liquid chromatography. Am J Hum Genet 71 (Suppl):427.

  165. De Luca A, Buccino A, Gianni D, Lazzarino AI, Mangino M, Giustini S, Richetta A, Divona L, Calvieri S, Mingarelli R, Dallapiccola B. (2002). NF1-gene analysis based on denaturing high-performance liquid chromatography (DHPLC). Am J Hum Genet 71 (Suppl):374.

  166. McWilliams S, Nelson T, Cavender M, Goldfarb L, Sivakumar K, Sambuughin N. (2002). Comprehensive screening of the RYR1 gene by denaturing high-performance liquid chromatography. Am J Hum Genet 71 (Suppl):547.

  167. Bayat A, Walter J, McAndrew P, Lamb H, Watson JS, Stanley JK, Marino M, Ferguson MWJ, Ollier WER. (2002). Identification of novel mitochondrial mutations in Dupuytrens disease using enhanced multiplex DHPLC. Am J Hum Genet 71 (Suppl):500.

  168. Walter J, Lamb H, Marino MA. (2002). High throughput mutation detection in the mitochondrial genome using DHPLC. Am J. Hum Genet 71 (Suppl):503.

  169. Prassad SD, Kolln KA, Cucci RA, Van Hauwe P, Coucke P, Trembath R, Van Camp G, Smith RJH. (2002). Mutation Screening of SLC26A4 by DHPLC. Am J Hum Genet 71 (Suppl):375.

  170. Kessler JZ, Matthews LJ, Hillman RE, Phillips CL. (2002). Carrier and newborn diagnostic test for the common Y438N maple syrup urine disease allele by DHPLC. Am J Hum Genet 71 (Suppl):411.

  171. Colosimo A, Guida V, Rigoli L, Di Bella C, De Luca A, Palka G, Salpietro DC, Dallapiccola B. (2002). Mutational screening of Italian Wolfram Syndrome patients by DHPLC. Am J Hum Genet 71 (Suppl):385.

  172. Elahi E, Alinasab B, Esson G, Ghassemi F, Houshmand M, Khodadad A, Oefner P, Reihani-Sabet F, Ronaghi M, Shahabi M, Thorstenson Y. (2002). Analysis of eight exons of the CFTR gene in 65 Iranian cystic fibrosis patients by DHPLC and sequencing. Am J Hum Genet 71 (Suppl):546.

  173. Ferec C, Rouault K, Audrezet MP, Le Marechal C. (2002). Improvement of the scanning of the CFTR gene by multiplexing DHPLC analysis. Am J Hum Genet 71 (Suppl):546.

  174. Hu X, Robin RW, Taubman J, Goldman D. (2002). Genotyping of the HTTLPR Ins/Del by dHPLC followed by association/linkage diseqilibrium to behavior in a Southwest American Indian isolate. Am J Hum Genet 71 (Suppl):505.

  175. Emmerson P, Maynard J, Butler R, Sampson JR, Cheadle JP. (2002). Characterisation of mutations in patients with low level mosaicism by fraction collection of dHPLC separated heteroduplex peaks. Am J Hum Genet 71 (Suppl):545.

  176. De Paula F, Vainzof M, Passos-Bueno MR, De Cassia M Pavanello R, Matioli SR, V B Anderson L, Nigro V, Zatz M. (2002) Clinical variability in calpainopathy: What makes the difference? Eur J Hum Genet. Dec;10(12):825-32.

  177. Arnold N, Peper H, Bandick K, Kreikemeier M, Karow D, Teegen B, Jonat W. (2002) Establishing a control population to screen for the occurrence of nineteen unclassified variants in the BRCA1 gene by denaturing high-performance liquid chromatography. J Chromatogr B Analyt Technol Biomed Life Sci. Dec 25;782(1-2):99-104.

  178. Muhr D, Wagner T, Oefner PJ. (2002) Polymerase chain reaction fidelity and denaturing high-performance liquid chromatography. J Chromatogr B Analyt Technol Biomed Life Sci. Dec 25;782(1-2):105-10.

  179. Heritage ML, MacMillan JC, Anderson GJ. (2002) DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. Hum Mutat. Dec;20(6):481.

  180. Karkera JD, Izraeli S, Roessler E, Dutra A, Kirsch I, Muenke M. (2002) The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly. Cytogenet Genome Res.;97(1-2):62-7.

  181. Van Driest SL, Will ML, Atkins DL, Ackerman MJ. (2002) A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood.Am J Cardiol. Nov 15;90(10):1123-7.

  182. Wan J, Shi J, Hui L, Wu D, Jin X, Zhao N, Huang W, Xia Z, Hu G. (2002) The effect of weather on respiratory and cardiovascular deaths in 12 u.s. Cities. Environ Health Perspect. Dec;110(12):1213-8.

  183. Oefner PJ, Huber CG. (2002) A decade of high-resolution liquid chromatography of nucleic acids on styrene-divinylbenzene copolymers. J Chromatogr B Analyt Technol Biomed Life Sci. Dec 25;782(1-2):27-55.

  184. Oefner PJ. (2002) Sequence variation and the biological function of genes: methodological and biological considerations. J Chromatogr B Analyt Technol Biomed Life Sci. Dec 25;782(1-2):3-25.

  185. Walcher W, Oberacher H, Troiani S, Holzl G, Oefner P, Zolla L, Huber CG. (2002) Monolithic capillary columns for liquid chromatography-electrospray ionization mass spectrometry in proteomic and genomic research. J Chromatogr B Analyt Technol Biomed Life Sci. Dec 25;782(1-2):111-25.

  186. Gerth C, Andrassi-Darida M, Bock M, Preising MN, Weber BH, Lorenz B. (2002). Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. Am J Hum Genet 240:628-638.

  187. Mackay DJ, Coupe AM, Shield JP, Storr JN, Temple IK, Robinson DO. (2002). Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. Hum. Genet. 110, 139-144.

  188. Conte I, Lestingi M, den Hollander A, Miano MG, Alfano G, Circolo D, Pugliese M, Testa F, Simonelli F, Rinaldi E, Baiget M, Banfi S, Ciccodicola A. (2002). Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. Gene 297, 33-38.

  189. Liu Y, Dodds P, Emilion G, Mungall AJ, Dunham I, Beck S, Wells RS, Charnock FM, Ganesan TS. (2002). The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer. BMC Genet. 3, 20.

  190. Nakayama J, Yoshizawa T, Yamamoto N, Arinami T. (2002). Mutation analysis of the calpastatin gene (CAST) in patients with Alzheimer's disease. Neurosci. Lett. 320, 77-80.

  191. Tomizawa Y, Kohno T, Kondo H, Otsuka A, Nishioka M, Niki T, Yamada T, Maeshima A, Yoshimura K, Saito R, Minna JD, Yokota J. (2002). Clinicopathological significance of epigenetic inactivation of RASSF1A at 3p21.3 in stage I lung adenocarcinoma. Clin Cancer Res 8:2362-2368.

  192. Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, Tajik AJ, Gersh BJ. (2002). Prevalence and Severity of "Benign" Mutations in the beta-Myosin Heavy Chain, Cardiac Troponin T, and alpha-Tropomyosin Genes in Hypertrophic Cardiomyopathy Circulation 106, 3085-3090.

  193. Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A, Schwartz CE. (2002) Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. J Med Genet. Dec;39(12):893-899.

  194. Toomajian C, Kreitman M. (2002). Sequence Variation and Haplotype Structure at the Human HFE Locus. Genetics 161, 1609-1623.

  195. Fornage M, Hinojos CA, Nurowska BW, Boerwinkle E, Hammock BD, Morisseau CH, Doris PA. (2002). Polymorphism in soluble epoxide hydrolase and blood pressure in spontaneously hypertensive rats. Hypertension 40, 485-490.

  196. Luedecking-Zimmer E, DeKosky ST, Chen Q, Barmada MM, Kamboh MI. (2002). Investigation of oxidized LDL-receptor 1 (OLR1) as the candidate gene for Alzheimer's disease on chromosome 12. Hum. Genet. 111, 443-451.

  197. Cazzola M, Cremonesi L, Papaioannou M, Soriani N, Kioumi A, Charalambidou A, Paroni R, Romtsou K, Levi S, Ferrari M, Arosio P, Christakis J. (2002). Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). Br J Haematol 119, 539-546.

  198. Nickerson M, Warren M, Toro J, Matrosova V, Glenn G, Turner M, Duray P, Merino M, Choyke P, Pavlovich C, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman M, Linehan W, Zbar B, Schmidt L. (2002). Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell 2, 157-164.

  199. Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. (2002). Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet 39:796-803.

  200. Lusher ME, Lindsey JC, Latif F, Pearson AD, Ellison DW, Clifford SC. (2002). Biallelic epigenetic inactivation of the RASSF1A tumor suppressor gene in medulloblastoma development. Cancer Res. 62, 5906-5911.

  201. Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WH, Irvine AD. (2002). Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1. J. Invest. Dermatol. 119, 966-971.

  202. Hunter DS, Klotzbucher M, Kugoh H, Cai SL, Mullen JP, Manfioletti G, Fuhrman U, Walker CL. (2002). Aberrant expression of HMGA2 in uterine leiomyoma associated with loss of TSC2 tumor suppressor gene function. Cancer Res. 62, 3766-3772.

  203. Yu C, Pan K, Xing D, Liang G, Tan W, Zhang L, Lin D. (2002). Correlation between a single nucleotide polymorphism in the matrix metalloproteinase-2 promoter and risk of lung cancer. Cancer Res 62:6430-6433.

  204. Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA. (2002). The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat. Genet. 32, 384-392.

  205. Scotet V, Gillet D, Dugueperoux I, Audrezet MP, Bellis G, Garnier B, Roussey M, Rault G, Parent P, De Braekeleer M, Ferec C, Reseau Mucoviscidose Bretagne Et Pays De Loire. (2002). Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960. Hum. Genet. 111, 247-254.

  206. Geoerger B, Grill J, Opolon P, Morizet J, Aubert G, Terrier-Lacombe MJ, Bressac De-Paillerets B, Barrois M, Feunteun J, Kirn DH, Vassal G. (2002). Oncolytic activity of the E1B-55 kDa-deleted adenovirus ONYX-015 is independent of cellular p53 status in human malignant glioma xenografts. Cancer Res 62:764-772.

  207. Vivian JL, Chen Y, Yee D, Schneider E, Magnuson T. (2002). An allelic series of mutations in Smad2 and Smad4 identified in a genotype-based screen of N-ethyl-N- nitrosourea-mutagenized mouse embryonic stem cells. Am. J. Hum. Genet. 99, 15542-15547.

  208. Bettecken T, Rubie C, Lichtner P, Siekiera M, Meitinger T, Stober G. (2002) Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. Mol Cell Probes. Oct;16(5):379-84.

  209. Williams NM, Spurlock G, Norton N, Williams HJ, Hamshere ML, Krawczak M, Kirov G, Nikolov I, Georgieva L, Jones S, Cardno AG, O'Donovan MC, Owen MJ. (2002) Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach. Mol Psychiatry 7(10):1092-100.

  210. Tsukaguchi H, Sudhakar A, Le TC, Nguyen T, Yao J, Schwimmer JA, Schachter AD, Poch E, Abreu PF, Appel GB, Pereira AB, Kalluri R, Pollak MR. (2002). NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J. Clin. Invest. 110, 1659-1666.

  211. Rudolph JG, White S, Sokolsky C, Bozak D, Mazzanti C, Lipsky RH, Goldman D. (2002) Determination of Melting Temperature for Variant Detection Using dHPLC: A Comparison Between an Empirical Approach and DNA Melting Prediction Software. Genet Test. Fall;6(3):169-76.

  212. Liu MR, Pan KF, Wang Y, Lu YY. (2002) Influence of DNA polymerases on mutation screening of denaturing high-performance liquid chromatography. Ai Zheng. Oct;21(10):1160-3. Chinese.

  213. Iwamoto K, Kato T. (2002). Effects of cocaine and reserpine administration on RNA editing of rat 5-HT(2C) receptor estimated by primer extension combined with denaturing high-performance liquid chromatography. Pharmacogenomics J. 2, 335-340.

  214. Malacarne M, Madia F, Gennaro E, Vacca D, Guney AI, Buono S, Bernardina BD, Gaggero R, Gobbi G, Lispi ML, Malamaci D, Melideo G, Roccella M, Sferro C, Tiberti A, Vanadia F, Vigevano F, Viri F, Vitali MR, Bricarelli FD, Bianchi A, Zara F. (2002). Lack of SCN1A mutations in familial febrile seizures. Epilepsia 43, 559-562.

  215. Suzuki T, Morita R, Sugimoto Y, Sugawara T, Bai DS, Alonso ME, Medina MT, Bailey JN, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Ochoa A, Jara-Prado A, Inazawa J, Delgado-Escueta AV, Yamakawa K. (2002). Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5. Epilepsy Res. 50, 265-275.

  216. Hunt JD, Strimas A, Martin JE, Eyer M, Haddican M, Luckett BG, Ruiz B, Axelrad TW, Backes WL, Fontham ET. (2002). Differences in KRAS mutation spectrum in lung cancer cases between African Americans and Caucasians after occupational or environmental exposure to known carcinogens. Cancer Epidemiol. Biomarkers Prev. 11, 1405-1412

  217. Eurlings PM, van der Kallen CJ, Geurts JM, Flavell DM, de Bruin TW. (2002). Identification of the PPARA locus on chromosome 22q13.3 as a modifier gene in familial combined hyperlipidemia. Mol. Genet. Metab. 77, 274-281.

  218. Zanger UM, Fischer J, Klein K, Lang T. (2002). Detection of single nucleotide polymorphisms in CYP2B6 gene. Methods Enzymol 357, 45-53.

  219. Rubie C, Lichtner P, Gartner J, Siekiera M, Uziel G, Kohlmann B, Kohlschutter A, Meitinger T, Stober G, Bettecken T. (2002). Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? Hum. Mutat. 21, 45-52.

  220. Offit K, Gilad S, Paglin S, Kolachana P, Roisman LC, Nafa K, Yeugelewitz V, Gonzales M, Robson M, McDermott D, Pierce HH, Kauff ND, Einat P, Jhanwar S, Satagopan JM, Oddoux C, Ellis N, Skaliter R, Yahalom J. (2002). Rare Variants of ATM and Risk for Hodgkin's Disease and Radiation-associated Breast Cancers. Clin. Cancer Res. 8, 3813-3819.

  221. De Paula F, Vainzof M, Passos-Bueno MR, De Cassia M Pavanello R, Matioli SR, V B Anderson L, Nigro V, Zatz M. (2002) Clinical variability in calpainopathy: What makes the difference? Eur J Hum Genet. Dec;10(12):825-32.

  222. Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA. (2002). The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am. J. Hum. Genet. 71, 1395-1412.

  223. Burchell A, Forsyth L, Hume R. (2002) Polymorphisms in genes involved in glucose metabolism in cases of sudden infant death syndrome. Child Care Health Dev. Sep;28 Suppl 1:37-9.

  224. Young J, Barker M, Fraser L, Walsh MD, Spring K, Biden KG, Hopper JL, Leggett BA, Jass JR. (2002) Mutation searching in colorectal cancer studies: experience with a denaturing high-pressure liquid chromatography system for exon-by-exon scanning of tumour suppressor genes. Pathology. Dec;34(6):529-33.

  225. Nelis E, Erdem S, Tan E, Lofgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H. (2002). A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. Neuromuscul. Disord. 12, 869-873.

  226. Valdivia CR, Ackerman MJ, Tester DJ, Wada T, McCormack J, Ye B, Makielski JC. (2002). A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine. Cardiovasc. Res. 55, 279-289.

  227. Arbustini E, Pilotto A, Repetto A, Grasso M, Negri A, Diegoli M, Campana C, Scelsi L, Baldini E, Gavazzi A, Tavazzi L. (2002). Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J. Am. Coll. Cardiol. 39, 981-990.

  228. Wang JB, Ren HY, Li D, Sun Q, Lu DP. (2002) Frequency of Donor TNF-alpha Gene Polymorphism in Patients with Graft Versus Host Disease Following Hematopoietic Stem Cell Transplantation. Zhongguo Shi Yan Xue Ye Xue Za Zhi. Apr;10(2):133-7. Chinese.

  229. D'Alfonso S, Giordano M, Mellai M, Lanceni M, Barizzone N, Marchini M, Scorza R, Danieli MG, Cappelli M, Rovere P, Sabbadini MG, Momigliano-Richiardi P. (2002) Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region. Genes Immun.Dec;3(8):454-63.

  230. Contu D, Morelli L, Zavattari P, Lampis R, Angius E, Frongia P, Murru D, Maioli M, Francalacci P, Todd JA, Cucca F. (2002). Sex-related bias and exclusion mapping of the nonrecombinant portion of chromosome Y in human type 1 diabetes in the isolated founder population of Sardinia. Diabetes 51, 3573-3576.

  231. Brightwell G, Wycherley R, Potts G, Waghorn A. (2002). A high-density SNP map for the FRAX region of the X chromosome. J. Hum. Genet. 47, 567-575.

  232. Patel D, Tock MR, Frary E, Feng M, Pickering TJ, Grasby JA, Sayers JR. (2002). A conserved tyrosine residue aids ternary complex formation, but not catalysis, in phage T5 flap endonuclease.
    J. Mol. Biol. 320, 1025-1035.

  233. Francks C, Fisher SE, Olson RK, Pennington BF, Smith SD, DeFries JC, Monaco AP. (2002). Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1. Psychiatr. Genet. 12, 35-41.

  234. Furuno T, Landi MT, Ceroni M, Caporaso N, Bernucci I, Nappi G, Martignoni E, Schaeffeler E, Eichelbaum M, Schwab M, Zanger UM. (2002). Expression polymorphism of the blood-brain barrier component P-glycoprotein (MDR1) in relation to Parkinson's disease. Pharmacogenetics 12, 529-534.

  235. Humbert M, Deng Z, Simonneau G, Barst RJ, Sitbon O, Wolf M, Cuervo N, Moore KJ, Hodge SE, Knowles JA, Morse JH. (2002). BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. Eur. Respir. J. 20, 518-523.

  236. Xu E, Jia J, Sun W. (2002) [Mutation site of presenilin-1 gene in familial Alzheimer's disease] Zhonghua Yi Xue Za Zhi. 2002 Nov 25;82(22):1518-20. Chinese.

  237. Passarino G, Cavalleri GL, Lin AA, Cavalli-Sforza LL, Borresen-Dale AL, Underhill PA. (2002) Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms. Eur J Hum Gene Sep;10(9):521-9.

  238. 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 71:223-237.

  239. Schrijver I, Schievink WI, Godfrey M, Meyer FB, Francke U. (2002). Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy. J Neurosurg 96:483-489.

  240. Gross E, Seck K, Kiechle M. (2002) [Mutations in the dihydropyrimidine dehydrogenase gene and their role in 5-fluororuracil intolerance] Zentralbl Gynakol. 2002 Dec;124(12):574-9.

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