The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease
Tài liệu tham khảo
Probert, 1996, Epidemiology of inflammatory bowel disease in different ethnic and religious groups: limitations and aetiological clues, Int J Colorectal Dis, 11, 25, 10.1007/BF00418851
Sartor, 1997, Pathogenesis and immune mechanisms of chronic inflammatory bowel diseases, Am J Gastroenterol, 92, 5S
Orchard, 2000, Genetics of inflammatory bowel disease: a reappraisal, Scand J Immunol, 51, 10, 10.1046/j.1365-3083.2000.00656.x
Forabosco, 2000, Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterise Crohn's disease and ulcerative colitis, Eur J Hum Genet, 8, 846, 10.1038/sj.ejhg.5200542
Orholm, 1993, Investigation of inheritance of chronic inflammatory bowel diseases by complex segregation analysis, Br Med J, 306, 20, 10.1136/bmj.306.6869.20
Monsen, 1989, Evidence for a major additive gene in ulcerative colitis, Clin Genet, 36, 411
Kuster, 1989, The genetics of Crohn disease: complex segregation analysis of a family study with 265 patients with Crohn disease and 5,387 relatives, Am J Med Genet, 32, 105, 10.1002/ajmg.1320320122
Hugot, 1996, Mapping of a susceptibility locus for Crohn's disease on chromosome 16, Nature, 379, 821, 10.1038/379821a0
International Genetics Consortium, 2001, International collaboration provides convincing linkage replication in complex diseases through analysis of a large pooled data set: Crohn disease and chromosome 16, Am J Hum Genet, 68, 1165, 10.1086/320119
Hugot, 2001, Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease, Nature, 411, 599, 10.1038/35079107
Ogura, 2001, A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease, Nature, 411, 603, 10.1038/35079114
Hampe, 2001, Association between insertion mutation in NOD2 gene and Crohn's disease in German and British population, Lancet, 357, 1925, 10.1016/S0140-6736(00)05063-7
Lennard-Jones, 1989, Classification of inflammatory bowel disease, Scand J Gastroenterol Suppl, 170, 2, 10.3109/00365528909091339
Podolsky, 1991, Inflammatory bowel disease, N Engl J Med, 325, 928, 10.1056/NEJM199109263251306
Livak, 1995, Towards fully automated genome-wide polymorphism screening, Nat Genet, 9, 341, 10.1038/ng0495-341
O'Connell, 1998, PedCheck: a program for identification of genotype incompatibilities in linkage analysis, Am J Hum Genet, 63, 259, 10.1086/301904
Spielman, 1993, Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM), Am J Hum Genet, 52, 506
Clayton, 1999, A generalisation of the transmission/disequilibrium test for uncertain-haplotype transmission, Am J Hum Genet, 65, 1170, 10.1086/302577
Xie, 1993, Testing linkage disequilibrium between a disease gene and marker loci, Am J Hum Genet, 53, 1107
Zhao, 2000, Model-free analysis and permutation test for allelic associations, Hum Hered, 50, 133, 10.1159/000022901
Devlin, 1995, A comparison of linkage disequilibrium measures for fine-scale mapping, Genomics, 29, 311, 10.1006/geno.1995.9003
Hampe, 1999, A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort, Am J Hum Genet, 64, 808, 10.1086/302294
Lie, 2000, Application and interpretation of transmission/disequilibrium tests: transmission of HLA-DQ haplotypes to unaffected siblings in 526 families with type I diabetes, Am J Hum Genet, 66, 740, 10.1086/302780
Lewis, 2000, Power of the TDT to detect association: effect of linkage disequilibrium between genetic markers and an unobserved disease mutation, GeneScreen, 1, 69, 10.1046/j.1466-9218.2000.00022.x
Pritchard, 2001, Are rare variants responsible for susceptibility to complex diseases?, Am J Hum Genet, 69, 124, 10.1086/321272
Hampe, 2002, Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p, Proc Natl Acad Sci U S A, 99, 321, 10.1073/pnas.261567999
Brant, 2000, Linkage heterogeneity for the IBD1 locus in Crohn's pedigrees by disease onset and severity, Gastroenterology, 119, 1483, 10.1053/gast.2000.20245
de la Concha, 2000, Susceptibility to severe ulcerative colitis is associated with polymorphism in the central MHC gene IKBL, Gastroenterology, 119, 1491, 10.1053/gast.2000.20258
Parkes, 2000, The IBD2 locus shows linkage heterogeneity between ulcerative colitis and Crohn disease, Am J Hum Genet, 67, 1605, 10.1086/316905
Bayless, 1996, Crohn's disease: concordance for site and clinical type in affected family members – potential hereditary influences, Gastroenterology, 111, 573, 10.1053/gast.1996.v111.pm8780559
Colombel, 1996, Clinical characteristics of Crohn's disease in 72 families, Gastroenterology, 111, 813, 10.1053/gast.1996.v111.pm8780563