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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

 
 
2003

  1. Emmerson P, Maynard J, Jones S, Butler R, Sampson JR, Cheadle JP. (2003) Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Hum Mutat. 2003 Feb;21(2):112-5.

  2. Urbanek M, Du Y, Silander K, Collins FS, Steppan CM, Strauss JF 3rd, Dunaif A, Spielman RS, Legro RS. (2003). Variation in resistin gene promoter not associated with polycystic ovary syndrome. Diabetes 52, 214-217.

  3. Offit K, Heather P, Kirchhoff T, Prema K, Rapaport B, Gregersen P, Johnson S, Yossepowitch O, Huang H, Satagopan J, Robson M, Scheuer L, Nafa K, Ellis N. (2003). Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Genet. 4, epub.

  4. Li A, Davila S, Furu L, Qian Q, Tian X, Kamath PS, King BF, Torres VE, Somlo S. (2003). Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease. Am. J. Hum. Genet. 72, epub.

  5. Schollen E, Matthijs G, Gewillig M, Fryns JP, Legius E. (2003). PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. Eur. J. Hum. Genet. 11, 85-88.

  6. Deng DJ, Zhou J, Zhu BD, Ji JF, Harper JC, Powell SM. (2003) Silencing-specific methylation and single nucleotide polymorphism of hMLH1 promoter in gastric carcinomas. World J Gastroenterol. Jan;9(1):26-9.

  7. Deng D, El-Rifai W, Ji J, Zhu B, Trampont P, Li J, Smith MF, Powel SM. (2003) Hypermethylation of metallothionein-3 CpG island in gastric carcinoma. Carcinogenesis.Jan;24(1):25-9.

  8. Zhao XR, Kang LC, Zhou YS, Jia YX, Chen Z, Kang SH, Li WM, Zhao M, Cui JT, Sun AL, Lu YY. (2003) Mutations of fragile histidine triad gene in Peutz-Jeghers syndrome and canceration. Ai Zheng. Jan;22(1):50-4. Chinese.

  9. Mellai M, Giordano M, D'Alfonso S, Marchini M, Scorza R, Giovanna Danieli M, Leone M, Ferro I, Liguori M, Trojano M, Ballerini C, Massacesi L, Cannoni S, Bomprezzi R, Momigliano-Richiardi P. (2003) Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus. Hum Immunol. Feb;64(2):274-84.

  10. Romano V, Cali F, Ragalmuto A, D'Anna RP, Flugy A, De Leo G, Giambalvo O, Lisa A, Fiorani O, Di Gaetano C, Salerno A, Tamouza R, Charron D, Zei G, Matullo G, Piazza A. (2003) Autosomal microsatellite and mtDNA genetic analysis in Sicily (Italy). Ann Hum Genet. Jan;67(Pt 1):42-53.

  11. Luc AD, Buccino A, Gianni D, Mangino M, Giustini S, Richetta A, Divona L, Calvieri S, Mingarelli R, Dallapiccola B. (2003) NF1 gene analysis based on DHPLC. Hum Mutat. Feb;21(2):171-2.

  12. Winter J, Lehmann T, Suckow V, Kijas Z, Kulozik A, Kalscheuer V, Hamel B, Devriendt K, Opitz J, Lenzner S, Ropers HH, Schweiger S. (2003) Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. Hum Genet. 2003, epub

  13. Fricke E, Keller G, Becker I, Rosivatz E, Schott C, Plaschke S, Rudelius M, Hermannstadter C, Busch R, Hofler H, Becker KF, Luber B. (2003) Relationship between E-cadherin gene mutation and p53 gene mutation, p53 accumulation, Bcl-2 expression and Ki-67 staining in diffuse-type gastric carcinoma. Int J Cancer. 2003 Mar 10;104(1):60-5.

  14. Tezak Z, Prandini P, Boscaro M, Marin A, Devaney J, Marino M, Fanin M, Trevisan CP, Park J, Tyson W, Finkel R, Garcia C, Angelini C, Hoffman EP, Pegoraro E. (2003) Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha2 (LAMA2) deficiency. Hum Mutat. Feb;21(2):103-11.

  15. Gross E, Seck K, Neubauer S, Mayr J, Hellebrand H, Ratanaphan A, Lutz V, Stockinger H, Kiechle M. (2003). High-throughput genotyping by DHPLC of the dihydropyrimidine dehydrogenase gene implicated in (fluoro)pyrimidine catabolism. Int J Oncol. Feb;22(2):325-32

  16. Li A, Davila S, Furu L, Qian Q, Tian X, Kamath PS, King BF, Torres VE, Somlo S. (2003). Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease. Am. J. Hum. Genet. 72, epub.

  17. Ray PF, Benit P, Bonnefont JP, Munnich A. (2003) Chronology of reported denaturing high performance liquid chromatography (DHPLC)-based prenatal diagnoses. Prenat Diagn. Jan;23(1):81.

  18. Auerbach AD, Greenbaum J, Pujara K, Batish SD, Bitencourt MA, Kokemohr I, Schneider H, Lobitzc S, Pasquini R, Giampietro PF, Hanenberg H, Levran O. (2003) Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study. Hum Mutat. Feb;21(2):158-68.

  19. Glare EM, Jenkins AJ, Cotton RG. (2003) Plastic contaminant masquerades as DNA in mutation detection by denaturing HPLC. Biotechniques. Jan;34(1):59-60.

  20. Tock MR, Frary E, Sayers JR, Grasby JA. (2003). Dynamic evidence for metal ion catalysis in the reaction mediated by a flap endonuclease. EMBO J. 22, 995-1004.

  21. Kaur M, Makrigiorgos GM. (2003) Novel amplification of DNA in a hairpin structure: towards a radical elimination of PCR errors from amplified DNA. Nucleic Acids Res. Mar 15;31(6):E26.

  22. Danilevskaya ON, Hermon P, Hantke S, Muszynski MG, Kollipara K, Ananiev EV. (2003). Duplicated fie Genes in Maize: Expression Pattern and Imprinting Suggest Distinct Functions. Plant Cell 15, 425-438.

  23. Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SC, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. (2003). Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126, 590-597.

  24. Khaliq S, Abid A, Hameed A, Anwar K, Mohyuddin A, Azmat Z, Shami SA, Ismail M, Mehdi SQ. (2003). Mutation screening of Pakistani families with congenital eye disorders. Exp. Eye Res. 76, 343-348.

  25. Stalmans I, Lambrechts D, De Smet F, Jansen S, Wang J, Maity S, Kneer P, Von Der Ohe M, Swillen A, Maes C, Gewillig M, Molin DG, Hellings P, Boetel T, Haardt M, Compernolle V, Dewerchin M, Plaisance S, Vlietinck R, Emanuel B, Gittenberger-De Groot AC, Scambler P, Morrow B, Driscol DA, Moons L, Esguerra CV, Carmeliet G, Behn-Krappa A, Devriendt K, Collen D, Conway SJ, Carmeliet P. (2003). VEGF: A modifier of the del22q11 (DiGeorge) syndrome? Nat. Med. 9, 173-182.

  26. Upadhyaya M, Majounie E, Thompson P, Han S, Consoli C, Krawczak M, Cordeiro I, Cooper DN. (2003). Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. Hum Genet 112:12-17.

  27. Ginolhac SM, Gad S, Corbex M, Bressac-De-Paillerets B, Chompret A, Bignon YJ, Peyrat JP, Fournier J, Lasset C, Giraud S, Muller D, Fricker JP, Hardouin A, Berthet P, Maugard C, Nogues C, Lidereau R, Longy M, Olschwang S, Toulas C, Guimbaud R, Yannoukakos D, Szabo C, Durocher F, Moisan AM, Simard J, Mazoyer S, Lynch HT, Goldgar D, Stoppa-Lyonnet D, Lenoir GM, Sinilnikova OM. (2003). BRCA1 Wild-Type Allele Modifies Risk of Ovarian Cancer in Carriers of BRCA1 Germ-Line Mutations. Cancer Epidemiol. Biomarkers Prev. 12, 90-95.

  28. Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL. (2003) Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum. Genet. 112, 135-142.

  29. Dong X, Wang L, Taniguchi K, Wang X, Cunningham JM, McDonnell SK, Qian C, Marks AF, Slager SL, Peterson BJ, Smith DI, Cheville JC, Blute ML, Jacobsen SJ, Schaid DJ, Tindall DJ, Thibodeau SN, Liu W. (2003). Mutations in CHEK2 Associated with Prostate Cancer Risk. Am. J. Hum. Genet. 72, 270-280.

  30. Sebastiani G, Wallace DF, Lioumi M, Goutos I, Mitchell WA, Bomford AB, Dhillon AP, Dooley JS, Ragoussis J, Walker AP. (2003). Non HFE-related haemochromatosis: exclusion of the 1q21 zinc-iron regulated transporter-like (ZIRTL) gene in juvenile haemochromatosis. J. Hepatol. 38, 376-377.
    De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G. (2003).

  31. De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G. (2003). Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat. Genet. 33, 192-196.

  32. Hogan MC, Griffin MD, Rossetti S, Torres VE, Ward CJ, Harris PC. (2003). PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression. Hum. Mol. Genet. 12, 685-698.

  33. McIlroy D, Cartron PF, Tuffery P, Dudoit Y, Samri A, Autran B, Vallette FM, Debre P, Theodorou I. (2003). A triple-mutated allele of granzyme B incapable of inducing apoptosis. Proc. Natl. Acad. Sci. 100, 2562-2567.

  34. Wolford JK, Gruber JD, Ossowski VM, Vozarova B, Antonio Tataranni P, Bogardus C, Hanson RL. (2003). A C-reactive protein promoter polymorphism is associated with type 2 diabetes mellitus in Pima Indians. Mol. Genet. Metab. 78, 136-144.

  35. Taylor MR, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E, Di Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL, Boucek MM, Lascor J, Moss AC, Li WL, Stetler GL, Muntoni F, Bristow MR, Mestroni L. (2003). Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J. Am. Coll. Cardiol. 41, 771-780.

  36. Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM. (2003). Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet 11:201-206.

  37. Mhatre A, Weld E, Lalwani A. (2003) Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment. Clin Genet.Feb;63(2):154-159.

  38. Kim IJ, Park JH, Kang H, Kim KH, Kim JH, Ku JL, Kang SB, Park S, Lee JS, Park JG. Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. Clin Genet. Feb;63(2):126-130.

  39. Pruhova S, Ek J, Lebl J, Sumnik Z, Saudek F, Andel M, Pedersen O, Hansen T. (2003) Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. Diabetologia. Feb;46(2):291-5.

  40. Mehdi H, Manzi S, Desai P, Chen Q, Nestlerode C, Bontempo F, Strom SC, Zarnegar R, Kamboh MI. (2003) A functional polymorphism at the transcriptional initiation site in beta2-glycoprotein I (apolipoprotein H) associated with reduced gene expression and lower plasma levels of beta2-glycoprotein I. Eur J Biochem. Jan;270(2):230-8.

  41. Couvert P, Poirier K, Carrie A, Chalas C, Jouannet P, Beldjord C, Bienvenu T, Chelly J, Kerjean A. (2003) DHPLC-based method for DNA methylation analysis of differential methylated regions from imprinted genes. Biotechniques. Feb;34(2):356-62.

  42. Deng D, El-Rifai W, Ji J, Zhu B, Trampont P, Li J, Smith MF, Powel SM. (2003). Hypermethylation of metallothionein-3 CpG island in gastric carcinoma. Carcinogenesis 24, 25-29.

  43. Lilleberg SL. (2003). In-depth mutation and SNP discovery using DHPLC gene scanning. Curr. Opin. Drug Discov. Devel. 6, 237-252.

  44. Colosimo A, Guida V, Flex E, Conti E, Dallapiccola B. (2003). Use of DHPLC for rapid screening of recombinant clones. Biotechniques 34, 706-708.

  45. Hofer A, Hermans M, Kubassek N, Sitzer M, Funke H, Stogbauer F, Ivaskevicius V, Oldenburg J, Burtscher J, Knopp U, Schoch B, Wanke I, Hubner F, Deinsberger W, Meyer B, Boecher-Schwarz H, Poewe W, Raabe A, Steinmetz H, Auburger G. (2003). Elastin polymorphism haplotype and intracranial aneurysms are not associated in central europe. Stroke 34, 1207-1211.

  46. Tammaro A, Bracco A, Cozzolino S, Esposito M, Di Martino A, Savoia G, Zeuli L, Piluso G, Aurino S, Nigro V. (2003) Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles. Clin Chem. 2003 May;49(5):761-8.

  47. Thistlethwaite WA, Moses LM, Hoffbuhr KC, Devaney JM, Hoffman EP. (2003) Rapid Genotyping of Common MeCP2 Mutations with an Electronic DNA Microchip Using Serial Differential Hybridization. J Mol Diagn. May;5(2):121-6.

  48. Breton J, Sichel F, Abbas A, Marnay J, Arsene D, Lechevrel M. (2003) Simultaneous use of DGGE and DHPLC to screen TP53 mutations in cancers of the esophagus and cardia from a European high incidence area (Lower Normandy, France). Mutagenesis. 2003 May;18(3):299-306.

  49. Mitchell M, Harrington P, Cutler J, Rangarajan S, Savidge G, Alhaq A. (2003) Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography. Br J Haematol. 2003 May;121(3):500-2.

  50. Mhatre AN, Kim Y, Brodie HA, Lalwani AK. (2003) Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. Otol Neurotol. 2003 Mar;24(2):205-9.

  51. Castaldo G, Nardiello P, Bellitti F, Rocino A, Coppola A, di Minno G, Salvatore F. (2003) Denaturing HPLC procedure for factor IX gene scanning. Clin ChemMay;49(5):815-8.

  52. Fruchon S, Bensaid M, Borot N, Roth MP, Coppin H. (2003) Use of denaturing HPLC and a heteroduplex generator to detect the HFE C282Y mutation associated with genetic hemochromatosis. Clin Chem. May;49(5):822-4.

  53. Bowen DT, Frew ME, Rollinson S, Roddam PL, Dring A, Smith MT, Langabeer SE, Morgan GJ. (2003). CYP1A1*2B (Val) allele is overrepresented in a subgroup of acute myeloid leukemia patients with poor-risk karyotype associated with NRAS mutation, but not associated with FLT3 internal tandem duplication. Blood 101, 2770-2774.

  54. Cremonesi L, Paroni R, Foglieni B, Galbiati S, Fermo I, Soriani N, Belloli S, Ruggeri G, Biasiotto G, Cazzola M, Ferrari F, Ferrari M, Arosio P. (2003). Scanning mutations of the 5'UTR regulatory sequence of l-ferritin by denaturing high-performance liquid chromatography: identification of new mutations. Br. J. Haematol. 121, 173-179.

  55. Backstrom G, Taipalensuu J, Melhus H, Brandstrom H, Svensson AC, Artursson P, Kindmark A. (2003). Genetic variation in the ATP-binding Cassette Transporter gene ABCG2 (BCRP) in a Swedish population. Eur. J. Pharm. Sci. 18, 359-364.

  56. Bernstein JL, Teraoka S, Haile RW, Borresen-Dale AL, Rosenstein BS, Gatti RA, Diep AT, Jansen L, Atencio DP, Olsen JH, Bernstein L, Teitelbaum SL, Thompson WD, Concannon P. (2003). Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. Hum. Mutat. 21, 542-550.

  57. Szijan I, Rochefort D, Bruder C, Surace E, Machiavelli G, Dalamon V, Cotignola J, Ferreiro V, Campero A, Basso A, Dumanski JP, Rouleau GA. (2003). NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH. NeuroMolecular Med. 3, 41-52.

  58. Pause FG, Wacker P, Maillet P, Betts D, Sappino AP. (2003). ATM gene alterations in childhood acute lymphoblastic leukemias. Hum. Mutat. 21, 554.

  59. Todd RD, Lobos EA, Sun LW, Neuman RJ. (2003). Mutational analysis of the nicotinic acetylcholine receptor alpha 4 subunit gene in attention deficit/hyperactivity disorder: evidence for association of an intronic polymorphism with attention problems. Mol. Psychiatry 8, 103-108.

  60. Liu HX, Zhou XL, Liu T, Werelius B, Lindmark G, Dahl N, Lindblom A. (2003). The Role of hMLH3 in Familial Colorectal Cancer. Cancer Res. 63, 1894-1899.

  61. Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML. (2003). Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene. Am. J. Hum. Genet. 72, 998-1004.

  62. Madia F, Gennaro E, Cecconi M, Buti D, Capovilla G, Dalla Bernardina B, Elia M, Ferrari A, Fontana E, Gaggero R, Giannotta M, Giordano L, Granata T, La Selva L, Luisa Lispi M, Santucci M, Vanadia F, Veggiotti P, Vigliano P, Viri M, Dagna Bricarelli F, Bianchi A, Zara F. (2003). No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. Epilepsy Res. 53, 196-200.

  63. Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, Van Heyningen V, FitzPatrick DR. (2003). Mutations in SOX2 cause anophthalmia. Nat. Genet. 33, 461-463.

  64. Heinritz W, Kujat A, Froster U. (2003). Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography. Clin. Genet. 63, 325-327.

  65. Brautigam S, Kujat A, Kirst P, Seidel J, Umit Luleyap H, Froster UG. (2003) DHPLC mutation analysis of phenylketonuria. Mol Genet Metab. Mar;78(3):205-10.

  66. Passarino G, Cavalleri GL, Stecconi R, Franceschi C, Altomare K, Dato S, Greco V, Luca Cavalli Sforza L, Underhill PA, de Benedictis G. (2003) Molecular variation of human HSP90alpha and HSP90beta genes in Caucasians. Hum Mutation May;21(5):554-5.

  67. Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J. (2003). Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J. Invest. Dermatol. 120, 601-609.

  68. Blaydon DC, Mueller RF, Hutchin TP, Leroy BP, Bhattacharya SS, Bird AC, Malcolm S, Bitner-Glindzicz M. (2003). The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK. Clin. Genet. 63, 303-307.

  69. Stanton T, Boxall S, Hirai K, Dawes R, Tonks S, Yasui T, Kanaoka Y, Yuldasheva N, Ishiko O, Bodmer W, Beverley PC, Tchilian EZ. (2003). A high-frequency polymorphism in exon 6 of the CD45 tyrosine phosphatase gene (PTPRC) resulting in altered isoform expression. Proc. Natl. Acad. Sci. 100, 5997-6002.

  70. State MW, Greally JM, Cuker A, Bowers PN, Henegariu O, Morgan TM, Gunel M, DiLuna M, King RA, Nelson C, Donovan A, Anderson GM, Leckman JF, Hawkins T, Pauls DL, Lifton RP, Ward DC. (2003). Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype. Proc. Natl. Acad. Sci. 100, 4684-4689.

  71. Vaughan CJ, Hom Y, Okin DA, McDermott DA, Lerman BB, Basson CT. (2003). Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome. J. Cardiovasc. Electrophysiol. 14, 263-268.

  72. Rickard SJ, Wilson LC. (2003). Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. Am. J. Hum. Genet. 72, 961-974.

  73. Lanzara C, Ficarella R, Totaro A, Chen X, Roberto R, Perrotta S, Lasalandra C, Gasparini P, Iolascon A, Carella M. (2003). Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes. Blood Cells Mol. Dis. 30, 22-29.

  74. Jaatinen T, Lahti M, Ruuskanen O, Kinos R, Truedsson L, Lahesmaa R, Lokki ML. (2003). Total C4B deficiency due to gene deletion and gene conversion in a patient with severe infections. Clin. Diagn. Lab. Immunol. 10, 195-201.

  75. Mok NS, Priori SG, Napolitano C, Chan NY, Chahine M, Baroudi G. (2003). A newly characterized SCN5A mutation underlying Brugada syndrome unmasked by hyperthermia. J. Cardiovasc. Electrophysiol. 14, 407-411.

  76. Bosch E, Calafell F, Rosser ZH, Norby S, Lynnerup N, Hurles ME, Jobling MA. (2003). High level of male-biased Scandinavian admixture in Greenlandic Inuit shown by Y-chromosomal analysis. Hum. Genet. 112, 353-363.

  77. Park JH, Kim IJ, Kang H, Lee SH, Shin Y, Kim KH, Lim SB, Kang SB, Lee K, Kim S, Lee MS, Lee MK, Park JH, Moon SD, Park JG. (2003). Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders. Clin Genet 64:48-53.

  78. Jansson M, Marknell T, Tomic L, Larsson L, Wadelius C. (2003). Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls. Ophthalmic Genet 24:103-110.

  79. Dupre N, Verlaan DJ, Hand CK, Laurent SB, Turecki G, Davenport WJ, Acciarri N, Dichgans J, Ohkuma A, Siegel AM, Rouleau GA. (2003). Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation. Can J Neurol Sci 30:122-128.

  80. Gennaro E, Veggiotti P, Malacarne M, Madia F, Cecconi M, Cardinali S, Cassetti A, Cecconi I, Bertini E, Bianchi A, Gobbi G, Zara F. (2003). Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. Epileptic Disord 5:21-25.

  81. Girardet A, Cathala P, Claustres M. (2003). Rapid detection of the deltaF508 mutation in single cells using DHPLC: implications for preimplantation genetic diagnosis. J Assist Reprod Genet 20:153-156.

  82. Colosimo A, Guida V, Rigoli L, Di Bella C, De Luca A, Briuglia S, Stuppia L, Carmelo Salpietro D, Dallapiccola B. (2003). Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. Hum Mutat 21:622-629.

  83. Tuffery-Giraud S, Saquet C, Chambert S, Claustres M. (2003). Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. Hum Mutat 21:608-614.

  84. Mogensen J, Bahl A, Kubo T, Elanko N, Taylor R, McKenna WJ. (2003). Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy. J Med Genet 40(5):E59.

  85. Tartaglia M, Cotter PD, Zampino G, Gelb BD, Rauen KA. (2003). Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes. Clin. Genet. 63:423-426.

  86. Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, TE, Cross NC, Tefferi A. (2003). Imatinib therapy for hypereosinophilic syndrome and other eosinophilic disorders. Blood 101:3391-3397.

  87. Hung CC, Farooqi IS, Ong K, Luan J, Keogh JM, Pembrey M, Yeo GS, Dunger D, Wareham NJ, O'Rahilly S. (2003). Contribution of Variants in the Small Heterodimer Partner Gene to Birthweight, Adiposity, and Insulin Levels: Mutational Analysis and Association Studies in Multiple Populations. Diabetes 52:1288-1291.

  88. Sobrido MJ, Abu-Khalil A, Weintraub S, Johnson N, Quinn B, Cummings JL, Mesulam MM, Geschwind DH. (2003). Possible association of the tau H1/H1 genotype with primary progressive aphasia. Neuorology 60:862-864.

  89. Claes L, Ceulemans B, Audenaert D, Smets K, Lofgren A, Del-Favero J, Ala-Mello S, Basel-Vanagaite L, Plecko B, Raskin S, Thiry P, Wolf NI, Van Broeckhoven C, De Jonghe P. (2003). De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat 21:615-621.

  90. Benit P, Beugnot R, Chretien D, Giurgea I, De Lonlay-Debeney P, Issartel JP, Corral-Debrinski M, Kerscher S, Rustin P, Rotig A, Munnich A. (2003). Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum Mutat 21:582-586.

  91. Hofer A, Hermans M, Kubassek N, Sitzer M, Funke H, Stogbauer F, Ivaskevicius V, Oldenburg J, Burtscher J, Knopp U, Schoch B, Wanke I, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group. (2003). Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 33:487-491.

  92. Pardanani A, Reeder T, Porrata LF, Li CY, Tazelaar HD, Baxter EJ, Witzig Hubner F, Deinsberger W, Meyer B, Boecher-Schwarz H, Poewe W, Raabe A, Steinmetz H, Auburger G. (2003). Elastin polymorphism haplotype and intracranial aneurysms are not associated in central Europe. Stroke 34:1207-1211.

  93. Wise CA, Paris M, Morar B, Wang W, Kalaydjieva L, Bittles AH (2003). A standard protocol for single nucleotide primer extension in the human genome using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Rapid Commun Mass Spectrom 17:1195-1202.

  94. Francalacci P, Morelli L, Underhill PA, Lillie AS, Passarino G, Useli A, Madeddu R, Paoli G, Tofanelli S, Calo CM, Ghiani ME, Varesi L, Memmi M, Vona G, Lin AA, Oefner P, Cavalli-Sforza LL. (2003). Peopling of three Mediterranean Islands (Corsica, Sardinia, and Sicily) inferred by Y-chromosome biallelic variability. Am J Phys Anthropol 121:270-279.

  95. Bosch E, Calafell F, Rosser ZH, Norby S, Lynnerup N, Hurles ME, Jobling MA. (2003). High level of male-biased Scandinavian admixture in Greenlandic Inuit shown by Y-chromosomal analysis. Hum. Genet. 112, 353-363.

  96. Mabic S, Kano I. (2003). Impact of purified water quality on molecular biology experiments. Clin Chem Lab Med 41:486-91.

  97. Frueh FW, Noyer-Weidner M. (2003). The use of denaturing high-performance liquid chromatography (DHPLC) for the analysis of genetic variations: impact for diagnostics and pharmacogenetics. Clin Chem Lab Med 41:452-61.

  98. Pfendner EG, Nakano A, Pulkkinen L, Christiano AM, Uitto J. (2003). Prenatal diagnosis for Epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn 23:447-456.

  99. Thorstenson YR, Roxas A, Kroiss R, Jenkins MA, Yu KM, Bachrich T, Muhr D, Wayne TL, Chu G, Davis RW, Wagner TMU, Oefner PJ. (2003). Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res 63:3325-3333.

  100. LaBerge GS, Shelton RJ, Danielson PB. (2003). Forensic utility of mitochondrial DNA analysis based on denaturing high-performance liquid chromatography. Croat Med J 44:281-288.

  101. Su YN, Lee CN, Hung CC, Chen CA, Cheng WF, Tsao PN, Yu CL, Hsieh FJ. (2003) Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC. Hum Mutat. 2003 Oct;22(4):326-36.

  102. Danielson PB, Shelton RJ, LaBerge GS. (2003) Clinical applications of denaturing high-performance liquid chromatography-based genotyping. Croat Med J. 2003 Aug;44(4):447-54.

  103. Ye J, Ding J, Chen Y, Huang J, Yang J. (2003) Analysis of glucocorticoid receptor gene polymorphisms by denaturing high-performance liquid chromatography. Beijing Da Xue Xue Bao. 2003 Aug;35(4):394-8.

  104. Deng S, Wang Y, Ke Y, Xu G. (2003) Analysis of the mutations of BRCA1 in 9 familiar breast cancer patients. Beijing Da Xue Xue Bao. 2003 Aug;35(4):373-6.

  105. Meyer P, Voigtlaender T, Bartram CR, Klaes R. (2003) Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. Hum Mutat. 2003 Sep;22(3):259.

  106. Bicocchi MP, Pasino M, Lanza T, Bottini F, Boeri E, Mori PG, Molinari AC, Rosano C, Acquila M. (2003) Analysis of 18 novel mutations in the factor VIII gene. Br J Haematol. 2003 Sep;122(5):810-7. 

  107. Wang YP, Zhang JN, Li JT, Zhou JN, Zhang XM, Zhu M. (2003) Mutation analysis on MSH2 and MLH1 genes in patients of colorectal cancer at early age. Zhonghua Yi Xue Za Zhi. 2003 Aug;83(15):1326-30.

  108. Mihalatos M, Apessos A, Triantafillidis JK, Kosmidis PA, Fountzilas G, Agnantis NJ, Yannoukakos D, Nasioulas G. (2003) Evaluation of dHPLC in mutation screening of the APC gene in a Greek FAP cohort. Anticancer Res. 2003 May-Jun;23(3B):2691-5.

  109. Xu L, Pan-Hammarstrom Q, Forsti A, Hemminki K, Hammarstrom L, Labuda D, Gustafsson JA, Dahlman-Wright K. (2003) Human estrogen receptor beta 548 is not a common variant in three distinct populations. Endocrinology. 2003 Aug;144(8):3541-6.

  110. Sasaki G, Ogata T, Ishii T, Kosaki K, Sato S, Homma K, Takahashi T, Hasegawa T, Matsuo N. (2003). Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. J Clin Endocrinol Metab 88:3431-3436.

  111. Harold D, Peirce T, Moskvina V, Myers A, Jones S, Hollingworth P, Moore P, Lovestone S, Powell J, Foy C, Archer N, Walter S, Edmonson A, McIlroy S, Craig D, Passmore PA, Goate A, Hardy J, O'Donovan M, Williams J, Liddell M, Owen MJ, Jones L. (2003). Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease. Hum. Genet. 113, 258-267.

  112. Temam S, Trassard M, Leroux G, Bosq J, Luboinski B, Lenoir G, Benard J, Janot F. (2003). Cytology vs molecular analysis for the detection of head and neck squamous cell carcinoma in oesopharyngeal brush samples: a prospective study in 56 patients. Br. J. Cancer 88, 1740-1745.

  113. Nakayama J, Hamano K, Noguchi E, Horiuchi Y, Iwasaki N, Ohta M, Nakahara S, Naoi T, Matsui A, Arinami T. (2003). Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients. Neurosci Lett 343:117-120.

  114. Kim IJ, Park JH, Kang HC, Shin Y, Lim SB, Ku JL, Yang HK, Lee KU, Park JG. (2003). A novel germline mutation in the MET extracellular domain in a Korean patient with the diffuse type of familial gastric cancer. J Med Genet 40:E97.

  115. Washizuka S, Kakiuchi C, Mori K, Kunugi H, Tajima O, Akiyama T, Nanko S, Kato T. (2003). Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder. Am J Med Genet 120B:72-78.

  116. Rindermann M, Grunig E, von Hippel A, Koehler R, Miltenberger-Miltenyi G, Mereles D, Arnold K, Pauciulo M, Nichols W, Olschewski H, Hoeper MM, Winkler J, Katus HA, Kubler W, Bartram CR, Janssen B. (2003). Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31. J. Am. Coll. Cardiol. 41, 2237-2244.

  117. Weigell-Weber M, Sarra GM, Kotzot D, Sandkuijl L, Messmer E, Hergersberg M. (2003). Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. Arch. Ophthalmol. 121, 1184-1188.

  118. Twells RC, Mein CA, Phillips MS, Hess JF, Veijola R, Gilbey M, Bright M, Metzker M, Lie BA, Kingsnorth A, Gregory E, Nakagawa Y, Snook H, Wang WY, Masters J, Johnson G, Eaves I, Howson JM, Clayton D, Cordell HJ, Nutland S, Rance H, Carr P, Todd JA. (2003). Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene. Genome Res. 13, 845-855.

  119. Lehavi O, Aizenstein O, Bercovich D, Pavzner D, Shomrat R, Orr-Urtreger A, Yaron Y. (2003) Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews. Genet Test. 2003 Summer;7(2):139-42.

  120. Fischer J, Schwab M, Eichelbaum M, Zanger UM. (2003) Mutational analysis of the human dihydropyrimidine dehydrogenase gene by denaturing high-performance liquid chromatography. Genet Test. 2003 Summer;7(2):97-105.

  121. Raghunathan A, Palsson BO. (2003) Scalable method to determine mutations that occur during adaptive evolution of Escherichia coli. Biotechnol Lett. 2003 Mar;25(5):435-41.

  122. Furu L, Onuchic LF, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Bergmann C, Senderek J, Avner E, Zerres K, Germino GG, Guay-Woodford LM, Somlo S. (2003) Milder presentation of recessive polycystic kidney disease requires presence of amino Acid substitution mutations. J Am Soc Nephrol. 2003 Aug;14(8):2004-14.

  123. Melki R, Belmouden A, Brezin A, Garchon HJ. (2003) Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutation. Hum Mutat. 2003 Aug;22(2):179.

  124. Melki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, Garchon H, Belmouden A. (2003) Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco. Ophthalmic Genet. 2003 Sep;24(3):153-60.

  125. Porkka KP, Nupponen NN, Tammela TL, Vessella RL, Visakorpi T. (2003) Human pHyde is not a classical tumor suppressor gene in prostate cancer. Int J Cancer. 2003 Sep 20;106(5):729-35.

  126. Do B, Lossos IS, Thorstenson Y, Oefner PJ, Levy R. (2003) Analysis of FAS (CD95) gene mutations in higher-grade transformation of follicle center lymphoma. Leuk Lymphoma. 2003 Aug;44(8):1317-23.

  127. zur Stadt U, Eckert C, Rischewski J, Michael K, Golta S, Muller M, Schneppenheim R, Kabisch H. (2003) Identification and characterisation of clonal incomplete T-cell-receptor Vdelta2-Ddelta3/Ddelta2-Ddelta3 rearrangements by denaturing high-performance liquid chromatography and subsequent fragment collection: implications for minimal residual disease monitoring in childhood acute lymphoblastic leukemia. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 25;792(2):287-98.

  128. Su ZG, Zhang SZ, Zhang L, Tong Y, Xiao CY, Hou YP, Liao LC. (2003) A novel polymorphism A(+884)-->G in the hepatic lipase gene and its association with coronary artery disease. Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai). 2003 Jul;35(7):606-10.

  129. Rossetti S, Torra R, Coto E, Consugar M, Kubly V, Malaga S, Navarro M, El-Youssef M, Torres VE, Harris PC. (2003) A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. Kidney Int. 2003 Aug;64(2):391-403.

  130. Flanagan J, Healey S, Young J, Whitehall V, Chenevix-Trench G. (2003) Analysis of the transcription regulator, CNOT7, as a candidate chromosome 8 tumor suppressor gene in colorectal cancer. Int J Cancer. 2003 Sep 10;106(4):505-9.

  131. Wei SC, Yu CY, Tsai-Wu JJ, Su YN, Sheu JC, Wu CH, Wang CY, Wong JM. (2003). Low mutation rate of hMSH2 and hMLH1 in Taiwanese hereditary non-polyposis colorectal cancer. Clin Genet 64:243-251.

  132. Lambrechts D, Storkebaum E, Morimoto M, Del-Favero J, Desmet F, Marklund SL, Wyns S, Thijs V, Andersson J, van Marion I, Al-Chalabi A, Bornes S, Musson R, Hansen V, Beckman L, Adolfsson R, Pall HS, Prats H, Vermeire S, Rutgeerts P, Katayama S, Awata T, Leigh N, Lang-Lazdunski L, Dewerchin M, Shaw C, Moons L, Vlietinck R, Morrison KE, Robberecht W, Van Broeckhoven C, Collen D, Andersen PM, Carmeliet P. (2003). VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat. Genet. 34, 383-394.

  133. Hyland VJ, Robertson SP, Flanagan S, Savarirayan R, Roscioli T, Masel J, Hayes M, Glass IA. (2003) Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. Am J Med Genet. 2003 Jul 15;120A(2):157-68.

  134. Hendy GN, Minutti C, Canaff L, Pidasheva S, Yang B, Nouhi Z, Zimmerman D, Wei C, Cole DE. (2003) Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. J Clin Endocrinol Metab. 2003 Aug;88(8):3674-81.

  135. Pfendner EG, Nakano A, Pulkkinen L, Christiano AM, Uitto J. (2003) Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn. 2003 Jun;23(6):447-56.

  136. Etokebe GE, Opsahl M, Tveter AK, Lie BA, Thorsby E, Vartdal F, Spurkland A. (2003) Physical separation of HLA-A alleles by denaturing high-performance liquid chromatography. Tissue Antigens. 2003 Jun;61(6):443-50.

  137. Mitui M, Campbell C, Coutinho G, Sun X, Lai CH, Thorstenson Y, Castellvi-Bel S, Fernandez L, Monros E, Carvalho BT, Porras O, Fontan G, Gatti RA. (2003) Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. Hum Mutat. 2003 Jul;22(1):43-50.

  138. Cremonesi L, Stenirri S, Fermo I, Paroni R, Ferrari M, Cazzola M, Arosio P. (2003) Denaturing HPLC analysis of DNA deletions and insertions. Hum Mutat. 2003 Jul;22(1):98-102. 

  139. Gross E, Seck K, Kiechle M. (2003) [Mutations in the dihydropyrimidine dehydrogenase gene and their role in 5-fluororuracil intolerance]. Zentralbl Gynakol. 2002 Dec;124(12):574-9. 

  140. Schmidt S, Postel EA, Agarwal A, Allen IC Jr, Walters SN, De la Paz MA, Scott WK, Haines JL, Pericak-Vance MA, Gilbert JR. (2003) Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy. Invest Ophthalmol Vis Sci. 2003 Jul;44(7):2868-75.

  141. Guo M, Rupe MA, Danilevskaya ON, Yang X, Hu Z. (2003) Genome-wide mRNA profiling reveals heterochronic allelic variation and a new imprinted gene in hybrid maize endosperm. Plant J. 2003 Oct;36(1):30-44.

  142. Wu G, Hua L, Zhu J, Mo QH, Xu XM.(2003) Rapid, accurate genotyping of beta-thalassaemia mutations using a novel multiplex primer extension/denaturing high-performance liquid chromatography assay. Br J Haematol. 2003 Jul;122(2):311-6.

  143. Schwarz G, Sift A, Wenzel G, Mohler V. (2003) DHPLC scoring of a SNP between promoter sequences of HMW glutenin x-type alleles at the Glu-D1 locus in wheat. J Agric Food Chem. 2003 Jul 16;51(15):4263-7.

  144. Mabic S, Kano I. (2003). Impact of purified water quality on molecular biology experiments. Clin. Chem. Lab. Med. 41, 486-491.

  145. Zhang Y, Brown G, Whetten R, Loopstra CA, Neale D, Kieliszewski MJ, Sederoff RR. (2003). An arabinogalactan protein associated with secondary cell wall formation in differentiating xylem of loblolly pine. Plant Mol. Biol. 52, 91-102.

  146. Hurtle W, Lindler L, Fan W, Shoemaker D, Henchal E, Norwood D. (2003) Detection and identification of ciprofloxacin-resistant Yersinia pestis by denaturing high-performance liquid chromatography. J Clin Microbiol. 2003 Jul;41(7):3273-83.

  147. Hurtle W, Bode E, Kaplan RS, Garrison J, Kearney B, Shoemaker D, Henchal E, Norwood D. (2003). Use of denaturing high-performance liquid chromatography to identify Bacillus anthracis by analysis of the 16S-23S rRNA interspacer region and gyrA gene. J Clin Microbiol. 2003 Oct;41(10):4758-66.

  148. Ribas G, Rivera J, Saraiva M, Campbell RD, Alcami A. (2003). Genetic variability of immunomodulatory genes in ectromelia virus isolates detected by denaturing high-performance liquid chromatography. J Virol. 2003 Sep;77(18):10139-46.

  149. Yip SP, Pun SF, Leung KH, Lee SY. (2003) Rapid, simultaneous genotyping of five common Southeast Asian beta-thalassemia mutations by multiplex minisequencing and denaturing HPLC. Clin Chem. 2003 Oct;49(10):1656-9.

  150. Steensma DP, Higgs DR, Fisher CA, Gibbons RJ. (2003). Acquired somatic ATRX mutations in myelodysplastic syndrome associated with {alpha} thalassemia (ATMDS) convey a more severe hematological phenotype than germline ATRX mutations. Blood. 2003 Oct 30 [Epub ahead of print]

  151. Varon R, Schoch C, Reis A, Hiddemann W, Sperling K, Schnittger S. (2003). Mutation Analysis of the Nijmegen Breakage Syndrome Gene (NBS1) in Nineteen Patients with Acute Myeloid Leukemia with Complex Karyotypes. Leuk. Lymphoma 44, 1931-1934.

  152. Bianchini M, Ottaviani E, Grafone T, Giannini B, Soverini S, Terragna C, Amabile M, Piccaluga PP, Malagola M, Rondoni M, Bosi C, Baccarani M, Martinelli G. (2003). Rapid detection of Flt3 mutations in acute myeloid leukemia patients by denaturing HPLC. Clin Chem. 2003 Oct;49(10):1642-50.

  153. Kabesch M, Tzotcheva I, Carr D, Hofler C, Weiland SK, Fritzsch C, Von Mutius E, Martinez FD. (2003). A complete screening of the IL4 gene: Novel polymorphisms and their association with asthma and IgE in childhood. J Allergy Clin Immunol. 2003 Nov;112(5):893-8.

  154. Cremonesi L, Foglieni B, Fermo I, Cozzi A, Paroni R, Ruggeri G, Belloli S, Levi S, Fargion S, Ferrari M, Arosio P. (2003). Identification of two novel mutations in the 5'-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning. Haematologica. 2003 Oct;88(10):1110-6.

  155. Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA. (2003). Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Am J Ophthalmol. 2003 Oct;136(4):678-87.

  156. Isidro G, Matos S, Goncalves V, Cavaleiro C, Antunes O, Marinho C, Soares J, Boavida MG. (2003). Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families. Hum Mutat. 2003 Nov;22(5):419-20.

  157. Spinarova L, Toman J, Hude P, Vohanka S, Vytopil M, Lukas Z, Novak M, Vitovec J. (2003). [Disorders of laminins in diseases of myocardial and skeletal muscles] Vnitr Lek. 2003 Aug;49(8):637-41.

  158. Semple JI, Ribas G, Hillyard G, Brown SE, Sanderson CM, Campbell RD. (2003). A novel gene encoding a coiled-coil mitochondrial protein located at the telomeric end of the human MHC Class III region. Gene. 2003 Sep 18;314:41-54.

  159. Bernstein JL, Bernstein L, Thompson WD, Lynch CF, Malone KE, Teitelbaum SL, Olsen JH, Anton-Culver H, Boice JD, Rosenstein BS, Borresen-Dale AL, Gatti RA, Concannon P, Haile RW; WECARE Study Collaborative Group. (2003). ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer. Br J Cancer. 2003 Oct 20;89(8):1513-6.

  160. Cancel-Tassin G, Latil A, Rousseau F, Mangin P, Bottius E, Escary JL, Berthon P, Cussenot O. (2003). Association study of polymorphisms in the human estrogen receptor alpha geLatil Ane and prostate cancer risk. Eur Urol. 2003 Oct;44(4):487-90.

  161. Wang XD, Fu Y, Jiang HJ, Morisaki H, Morisaki T. (2003). The application of denaturing high performance liquid chromatography in detection of novel polymorphisms in PAI-1gene. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Oct;20(5):404-8.

  162. Gurtler N, Kim Y, Mhatre A, Muller R, Probst R, Lalwani AK. (2003). GJB2 mutations in the Swiss hearing impaired. Ear Hear. 2003 Oct;24(5):440-7.

  163. Boettger MB, Sergi C, Meyer P. (2003). BRCA1/2 mutation screening and LOH analysis of lung adenocarcinoma tissue in a multiple-cancer patient with a strong family history of breast cancer. J Carcinog. 2003 Oct 2;2(1):5.

  164. Rajkumar T, Soumittra N, Nancy NK, Swaminathan R, Sridevi V, Shanta V. (2003). BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. Asian Pac J Cancer Prev. 2003 Jul-Sep;4(3):203-8.
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