-
1
-
-
0035820318
-
Prospective survey of childhood inflammatory bowel disease in the British Isles
-
DOI 10.1016/S0140-6736(00)04309-9
-
Sawczenko A, Sandhu BK, Logan RF, et al. Prospective survey of childhood inflammatory bowel disease in the British Isles. Lancet 2001;357:1093-4. (Pubitemid 32322542)
-
(2001)
Lancet
, vol.357
, Issue.9262
, pp. 1093-1094
-
-
Sawczenko, A.1
Sandhu, B.K.2
Logan, R.F.A.3
Jenkins, H.4
Taylor, C.J.5
Mian, S.6
Lynn, R.7
-
2
-
-
79959216005
-
Genetics and pathogenesis of inflammatory bowel disease
-
Khor B, Gardet A, Xavier RJ. Genetics and pathogenesis of inflammatory bowel disease. Nature 2011;474:307-17.
-
(2011)
Nature
, vol.474
, pp. 307-317
-
-
Khor, B.1
Gardet, A.2
Xavier, R.J.3
-
3
-
-
67349129707
-
Familial aggregation in Crohn's disease and ulcerative colitis in a Norwegian population-based cohort followed for ten years
-
Bengtson MB, Solberg C, Aamodt G, et al. Familial aggregation in Crohn's disease and ulcerative colitis in a Norwegian population-based cohort followed for ten years. J Crohns Colitis 2009;3:92-9.
-
(2009)
J Crohns Colitis
, vol.3
, pp. 92-99
-
-
Bengtson, M.B.1
Solberg, C.2
Aamodt, G.3
-
4
-
-
47949106374
-
Epidemiology of inflammatory bowel disease in a German twin cohort: Results of a nationwide study
-
Spehlmann ME, Begun AZ, Burghardt J, et al. Epidemiology of inflammatory bowel disease in a German twin cohort: results of a nationwide study. Inflamm Bowel Dis 2008;14:968-76.
-
(2008)
Inflamm Bowel Dis
, vol.14
, pp. 968-976
-
-
Spehlmann, M.E.1
Begun, A.Z.2
Burghardt, J.3
-
5
-
-
78649489009
-
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
-
Franke A, McGovern DP, Barrett JC, et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet 2010;42:1118-25.
-
(2010)
Nat Genet
, vol.42
, pp. 1118-1125
-
-
Franke, A.1
McGovern, D.P.2
Barrett, J.C.3
-
6
-
-
79952195585
-
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
-
Anderson CA, Boucher G, Lees CW, et al. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet 2011;43:246-52.
-
(2011)
Nat Genet
, vol.43
, pp. 246-252
-
-
Anderson, C.A.1
Boucher, G.2
Lees, C.W.3
-
7
-
-
80054975975
-
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
-
Rivas MA, Beaudoin M, Gardet A, et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet 2011;43:1066-73.
-
(2011)
Nat Genet
, vol.43
, pp. 1066-1073
-
-
Rivas, M.A.1
Beaudoin, M.2
Gardet, A.3
-
8
-
-
77953621982
-
Rare genetic variants and the risk of cancer
-
Bodmer W, Tomlinson I. Rare genetic variants and the risk of cancer. Curr Opin Genet Dev 2010;20:262-7.
-
(2010)
Curr Opin Genet Dev
, vol.20
, pp. 262-267
-
-
Bodmer, W.1
Tomlinson, I.2
-
9
-
-
80052838640
-
Unlocking Mendelian disease using exome sequencing
-
Gilissen C, Hoischen A, Brunner HG, et al. Unlocking Mendelian disease using exome sequencing. Genome Biol 2011;12:228.
-
(2011)
Genome Biol
, vol.12
, pp. 228
-
-
Gilissen, C.1
Hoischen, A.2
Brunner, H.G.3
-
10
-
-
79251645624
-
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
-
Worthey EA, Mayer AN, Syverson GD, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 2011;13:255-62.
-
(2011)
Genet Med
, vol.13
, pp. 255-262
-
-
Worthey, E.A.1
Mayer, A.N.2
Syverson, G.D.3
-
11
-
-
79953733858
-
The effect of next-generation sequencing technology on complex trait research
-
Day-Williams AG, Zeggini E. The effect of next-generation sequencing technology on complex trait research. Eur J Clin Invest 2011;41:561-7.
-
(2011)
Eur J Clin Invest
, vol.41
, pp. 561-567
-
-
Day-Williams, A.G.1
Zeggini, E.2
-
12
-
-
34548651642
-
Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adult-onset Crohn's disease
-
DOI 10.1002/ibd.20171
-
de Ridder L, Weersma RK, Dijkstra G, et al. Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adult-onset Crohn's disease. Inflamm Bowel Dis 2007;13:1083-92. (Pubitemid 47402591)
-
(2007)
Inflammatory Bowel Diseases
, vol.13
, Issue.9
, pp. 1083-1092
-
-
De Ridder, L.1
Weersma, R.K.2
Dijkstra, G.3
Van Der, S.G.4
Benninga, M.A.5
Nolte, I.M.6
Taminiau, J.A.J.M.7
Hommes, D.W.8
Stokkers, P.C.F.9
-
13
-
-
36749081017
-
Pediatric inflammatory bowel disease: Clinical and molecular genetics
-
DOI 10.1002/ibd.20213
-
Biank V, Broeckel U, Kugathasan S. Pediatric inflammatory bowel disease: clinical and molecular genetics. Inflamm Bowel Dis 2007;13:1430-8. (Pubitemid 350206858)
-
(2007)
Inflammatory Bowel Diseases
, vol.13
, Issue.11
, pp. 1430-1438
-
-
Biank, V.1
Broeckel, U.2
Kugathasan, S.3
-
14
-
-
34848826828
-
Association of a CXCL9 polymorphism with pediatric Crohn's disease
-
DOI 10.1016/j.bbrc.2007.09.020, PII S0006291X07019882
-
Lacher M, Kappler R, Berkholz S, et al. Association of a CXCL9 polymorphism with pediatric Crohn's disease. Biochem Biophys Res Commun 2007;363:701-7. (Pubitemid 47513686)
-
(2007)
Biochemical and Biophysical Research Communications
, vol.363
, Issue.3
, pp. 701-707
-
-
Lacher, M.1
Kappler, R.2
Berkholz, S.3
Baurecht, H.4
Von, S.D.5
Koletzko, S.6
-
15
-
-
70649113728
-
Common variants at five new loci associated with early-onset inflammatory bowel disease
-
Imielinski M, Baldassano RN, Griffiths A, et al. Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet 2009;41:1335-40.
-
(2009)
Nat Genet
, vol.41
, pp. 1335-1340
-
-
Imielinski, M.1
Baldassano, R.N.2
Griffiths, A.3
-
16
-
-
70949087383
-
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor
-
Glocker EO, Kotlarz D, Boztug K, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med 2009;361:2033-45.
-
(2009)
N Engl J Med
, vol.361
, pp. 2033-2045
-
-
Glocker, E.O.1
Kotlarz, D.2
Boztug, K.3
-
17
-
-
80051968181
-
Needles in stacks of needles: Finding disease-causal variants in a wealth of genomic data
-
Cooper GM, Shendure J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet 2011;12:628-40.
-
(2011)
Nat Rev Genet
, vol.12
, pp. 628-640
-
-
Cooper, G.M.1
Shendure, J.2
-
18
-
-
22044445381
-
Inflammatory bowel disease in children and adolescents: Recommendations for diagnosis-the Porto criteria
-
IBD Working Group of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition
-
IBD Working Group of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. Inflammatory bowel disease in children and adolescents: recommendations for diagnosis-the Porto criteria. J Pediatr Gastroenterol Nutr 2005;41:1-7.
-
(2005)
J Pediatr Gastroenterol Nutr
, vol.41
, pp. 1-7
-
-
-
19
-
-
79955712974
-
Pediatric modification of the Montreal classification for inflammatory bowel disease: The Paris classification
-
Levine A, Griffiths A, Markowitz J, et al. Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification. Inflamm Bowel Dis 2011;17:1314-21.
-
(2011)
Inflamm Bowel Dis
, vol.17
, pp. 1314-1321
-
-
Levine, A.1
Griffiths, A.2
Markowitz, J.3
-
20
-
-
77951770756
-
BEDTools: A flexible suite of utilities for comparing genomic features
-
Quinlan AR, Hall IM. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 2010;26:841-2.
-
(2010)
Bioinformatics
, vol.26
, pp. 841-842
-
-
Quinlan, A.R.1
Hall, I.M.2
-
21
-
-
68549104404
-
The sequence Alignment/Map format and SAMtools
-
Li H, Handsaker B, Wysoker A, et al. The sequence Alignment/Map format and SAMtools. Bioinformatics 2009;25:2078-9.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
-
22
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38:164.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. 164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
23
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
DOI 10.1093/nar/gkg509
-
Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-14. (Pubitemid 37442253)
-
(2003)
Nucleic Acids Research
, vol.31
, Issue.13
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
24
-
-
79960763462
-
dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
-
Liu X, Jian X, Boerwinkle E. dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat 2011;32:894-9.
-
(2011)
Hum Mutat
, vol.32
, pp. 894-899
-
-
Liu, X.1
Jian, X.2
Boerwinkle, E.3
-
25
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
26
-
-
0016197604
-
Amino acid difference formula to help explain protein evolution
-
Grantham R. Amino acid difference formula to help explain protein evolution. Science 1974;185:862-4.
-
(1974)
Science
, vol.185
, pp. 862-864
-
-
Grantham, R.1
-
27
-
-
0021710490
-
Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications
-
DOI 10.1007/BF02100628
-
Li WH, Wu CI, Luo CC. Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications. J Mol Evol 1984;21:58-71. (Pubitemid 15172244)
-
(1984)
Journal of Molecular Evolution
, vol.21
, Issue.1
, pp. 58-71
-
-
Li, W.H.1
Wu, C.I.2
Luo, C.C.3
-
28
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
-
DOI 10.1038/ng1090
-
Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet 2003;(33 Suppl):228-37. (Pubitemid 36278833)
-
(2003)
Nature Genetics
, vol.33
, Issue.SUPPL.
, pp. 228-237
-
-
Botstein, D.1
Risch, N.2
-
29
-
-
11144279151
-
Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: A metaanalysis
-
DOI 10.1111/j.1572-0241.2004.40304.x
-
Economou M, Trikalinos TA, Loizou KT, et al. Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis. Am J Gastroenterol 2004;99:2393-404. (Pubitemid 40039371)
-
(2004)
American Journal of Gastroenterology
, vol.99
, Issue.12
, pp. 2393-2404
-
-
Economou, M.1
Trikalinos, T.A.2
Loizou, K.T.3
Tsianos, E.V.4
Ioannidis, J.P.A.5
-
30
-
-
28644441750
-
The predicted impact of coding single nucleotide polymorphisms database
-
DOI 10.1158/1055-9965.EPI-05-0469
-
Rudd MF, Williams RD, Webb EL, et al. The predicted impact of coding single nucleotide polymorphisms database. Cancer Epidemiol Biomark Prev 2005;14:2598-604. (Pubitemid 41752721)
-
(2005)
Cancer Epidemiology Biomarkers and Prevention
, vol.14
, Issue.11 I
, pp. 2598-2604
-
-
Rudd, M.F.1
Williams, R.D.2
Webb, E.L.3
Schmidt, S.4
Sellick, G.S.5
Houlston, R.S.6
-
31
-
-
79351469297
-
Exome localization of complex disease association signals
-
Lehne B, Lewis CM, Schlitt T. Exome localization of complex disease association signals. BMC Genomics 2011;12:92.
-
(2011)
BMC Genomics
, vol.12
, pp. 92
-
-
Lehne, B.1
Lewis, C.M.2
Schlitt, T.3
-
32
-
-
77950243833
-
Multiple common variants for celiac disease influencing immune gene expression
-
Dubois PC, Trynka G, Franke L, et al. Multiple common variants for celiac disease influencing immune gene expression. Nat Genet 2010;42:295-302.
-
(2010)
Nat Genet
, vol.42
, pp. 295-302
-
-
Dubois, P.C.1
Trynka, G.2
Franke, L.3
-
33
-
-
55049111426
-
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility
-
Franke A, Balschun T, Karlsen TH, et al. Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet 2008;40:1319-23.
-
(2008)
Nat Genet
, vol.40
, pp. 1319-1323
-
-
Franke, A.1
Balschun, T.2
Karlsen, T.H.3
-
34
-
-
76349108817
-
Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk
-
Festen EA, Stokkers PC, van Diemen CC, et al. Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk. Am J Gastroenterol 2010;105:395-402.
-
(2010)
Am J Gastroenterol
, vol.105
, pp. 395-402
-
-
Festen, E.A.1
Stokkers, P.C.2
Van Diemen, C.C.3
-
35
-
-
54349090835
-
Antisense inhibition of ICAM-1 expression as therapy provides insight into basic inflammatory pathways through early experiences in IBD
-
Philpott JR, Miner PB Jr. Antisense inhibition of ICAM-1 expression as therapy provides insight into basic inflammatory pathways through early experiences in IBD. Expert Opin Biol Ther 2008;8:1627-32.
-
(2008)
Expert Opin Biol Ther
, vol.8
, pp. 1627-1632
-
-
Philpott, J.R.1
Miner Jr., P.B.2
-
36
-
-
84899672652
-
The complete individual genome of a Female Crohn's disease patient - What can you Learn?
-
Franke A, Kuehbacher T, Nikolaus S, et al. The complete individual genome of a Female Crohn's disease patient - What can you Learn? Gastroenterol 2011;140(5 Suppl 1):S-90.
-
(2011)
Gastroenterol
, vol.140
, Issue.5 SUPPL. 1
-
-
Franke, A.1
Kuehbacher, T.2
Nikolaus, S.3
-
38
-
-
44349132708
-
Common and rare variants in multifactorial susceptibility to common diseases
-
DOI 10.1038/ng.f.136, PII NGF136
-
Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008;40:695-701. (Pubitemid 351748875)
-
(2008)
Nature Genetics
, vol.40
, Issue.6
, pp. 695-701
-
-
Bodmer, W.1
Bonilla, C.2
-
39
-
-
84856088973
-
Phylomedicine: An evolutionary telescope to explore and diagnose the universe of disease mutations
-
Kumar S, Dudley JT, Filipski A, et al. Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations. Trends Genet 2011;27:377-86.
-
(2011)
Trends Genet
, vol.27
, pp. 377-386
-
-
Kumar, S.1
Dudley, J.T.2
Filipski, A.3
-
40
-
-
20844457302
-
Association of interleukin-8 receptor alpha polymorphisms with chronic obstructive pulmonary disease and asthma
-
DOI 10.1038/sj.gene.6364181
-
Stemmler S, Arinir U, Klein W, et al. Association of interleukin-8 receptor alpha polymorphisms with chronic obstructive pulmonary disease and asthma. Genes Immun 2005;6:225-30. (Pubitemid 40645566)
-
(2005)
Genes and Immunity
, vol.6
, Issue.3
, pp. 225-230
-
-
Stemmler, S.1
Arinir, U.2
Klein, W.3
Rohde, G.4
Hoffjan, S.5
Wirkus, N.6
Reinitz-Rademacher, K.7
Bufe, A.8
Schultze-Werninghaus, G.9
Epplen, J.T.10
-
41
-
-
33847649978
-
+ patients
-
DOI 10.1073/pnas.0611670104
-
Vasilescu A, Terashima Y, Enomoto M, et al. A haplotype of the human CXCR1 gene protective against rapid disease progression in HIV-1+ patients. Proc Natl Acad Sci U S A 2007;104:3354-9. (Pubitemid 46364163)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.9
, pp. 3354-3359
-
-
Vasilescu, A.1
Terashima, Y.2
Enomoto, M.3
Heath, S.4
Poonpiriya, V.5
Gatanaga, H.6
Do, H.7
Diop, G.8
Hirtzig, T.9
Auewarakul, P.10
Lauhakirti, D.11
Sura, T.12
Charneau, P.13
Marullo, S.14
Therwath, A.15
Oka, S.16
Kanegasaki, S.17
Lathrop, M.18
Matsushima, K.19
Zagury, J.-F.20
Matsuda, F.21
more..
-
42
-
-
34447504037
-
The NOD2-RICK complex signals from the plasma membrane
-
DOI 10.1074/jbc.M606242200
-
Lecine P, Esmiol S, Metais JY, et al. The NOD2-RICK complex signals from the plasma membrane. J Biol Chem 2007;282:15197-207. (Pubitemid 47093378)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.20
, pp. 15197-15207
-
-
Lecine, P.1
Esmiol, S.2
Metais, J.-Y.3
Nicoletti, C.4
Nourry, C.5
McDonald, C.6
Nunez, G.7
Hugot, J.-P.8
Borg, J.-P.9
Ollendorff, V.10
-
43
-
-
0035978533
-
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
-
DOI 10.1038/35079114
-
Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001;411:603-6. (Pubitemid 32531409)
-
(2001)
Nature
, vol.411
, Issue.6837
, pp. 603-606
-
-
Ogura, Y.1
Bonen, D.K.2
Inohara, N.3
Nicolae, D.L.4
Chen, F.F.5
Ramos, R.6
Britton, H.7
Moran, T.8
Karaliuskas, R.9
Duerr, R.H.10
Achkar, J.-P.11
Brant, S.R.12
Bayless, T.M.13
Kirschner, B.S.14
Hanauer, S.B.15
Nuez, G.16
Cho, J.H.17
-
44
-
-
17644386242
-
Risk of haematopoietic cancer in patients with inflammatory bowel disease
-
DOI 10.1136/gut.2004.051771
-
Askling J, Brandt L, Lapidus A, et al. Risk of haematopoietic cancer in patients with inflammatory bowel disease. Gut 2005;54:617-22. (Pubitemid 40559243)
-
(2005)
Gut
, vol.54
, Issue.5
, pp. 617-622
-
-
Askling, J.1
Brandt, L.2
Lapidus, A.3
Karlen, P.4
Bjorkholm, M.5
Lofberg, R.6
Ekbom, A.7
-
45
-
-
77954333000
-
NOD2/CARD15 genotype, cardiovascular disease and cancer in 43,600 individuals from the general population
-
Yazdanyar S, Nordestgaard BG. NOD2/CARD15 genotype, cardiovascular disease and cancer in 43,600 individuals from the general population. J Intern Med 2010;268:162-70.
-
(2010)
J Intern Med
, vol.268
, pp. 162-170
-
-
Yazdanyar, S.1
Nordestgaard, B.G.2
-
46
-
-
80955135827
-
Abundant pleiotropy in human complex diseases and traits
-
Sivakumaran S, Agakov F, Theodoratou E, et al. Abundant pleiotropy in human complex diseases and traits. Am J Hum Genet 2011;89:607-18.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 607-618
-
-
Sivakumaran, S.1
Agakov, F.2
Theodoratou, E.3
-
47
-
-
80655149205
-
New IBD genetics: Common pathways with other diseases
-
Lees CW, Barrett JC, Parkes M, et al. New IBD genetics: common pathways with other diseases. Gut 2011;60:1739-53.
-
(2011)
Gut
, vol.60
, pp. 1739-1753
-
-
Lees, C.W.1
Barrett, J.C.2
Parkes, M.3
|