-
1
-
-
0035865322
-
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
-
Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth C, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CC, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D; International SNP Map Working Group. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 2001;409(6822):928-933
-
(2001)
Nature
, vol.409
, Issue.6822
, pp. 928-933
-
-
Sachidanandam, R.1
Weissman, D.2
Schmidt, S.C.3
Kakol, J.M.4
Stein, L.D.5
Marth, C.6
Sherry, S.7
Mullikin, J.C.8
Mortimore, B.J.9
Willey, D.L.10
Hunt, S.E.11
Cole, C.C.12
Coggill, P.C.13
Rice, C.M.14
Ning, Z.15
Rogers, J.16
Bentley, D.R.17
Kwok, P.Y.18
Mardis, E.R.19
Yeh, R.T.20
Schultz, B.21
Cook, L.22
Davenport, R.23
Dante, M.24
Fulton, L.25
Hillier, L.26
Waterston, R.H.27
McPherson, J.D.28
Gilman, B.29
Schaffner, S.30
Van Etten, W.J.31
Reich, D.32
Higgins, J.33
Daly, M.J.34
Blumenstiel, B.35
Baldwin, J.36
Stange-Thomann, N.37
Zody, M.C.38
Linton, L.39
Lander, E.S.40
Altshuler, D.41
more..
-
2
-
-
0032699842
-
Characterization of single-nucleotide polymorphisms in coding regions of human genes
-
Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999;23:373
-
(1999)
Nat Genet
, vol.23
, pp. 373
-
-
Cargill, M.1
Altshuler, D.2
Ireland, J.3
Sklar, P.4
Ardlie, K.5
Patil, N.6
Shaw, N.7
Lane, C.R.8
Lim, E.P.9
Kalyanaraman, N.10
Nemesh, J.11
Ziaugra, L.12
Friedland, L.13
Rolfe, A.14
Warrington, J.15
Lipshutz, R.16
Daley, G.Q.17
Lander, E.S.18
-
3
-
-
12144291502
-
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
-
MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, Eisenbarth GS, Comings D, Mustelin T. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004;36:337-338
-
(2004)
Nat Genet
, vol.36
, pp. 337-338
-
-
MacMurray, J.1
Meloni, G.F.2
Lucarelli, P.3
Pellecchia, M.4
Eisenbarth, G.S.5
Comings, D.6
Mustelin, T.7
-
4
-
-
0037301951
-
The study of HLA class II and autoimmune diabetes
-
Wong FS, Wen L. The study of HLA class II and autoimmune diabetes. Current Molecular Medicine 3:1-15 2003
-
(2003)
Current Molecular Medicine
, vol.3
, pp. 1-15
-
-
Wong, F.S.1
Wen, L.2
-
5
-
-
0036075110
-
Molecular properties of HLA-DQ alleles conferring susceptibility to or protection from insulin-dependent diabetes mellitus: Keys to the fate of islet beta-cells
-
Moustakas AK, Papadopoulos CK. Molecular properties of HLA-DQ alleles conferring susceptibility to or protection from insulin-dependent diabetes mellitus: Keys to the fate of islet beta-cells American Journal of Medical Genetics 2002;115(1):37-47
-
(2002)
American Journal of Medical Genetics
, vol.115
, Issue.1
, pp. 37-47
-
-
Moustakas, A.K.1
Papadopoulos, C.K.2
-
6
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
-
Botstein D, Risch H. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet. 2003;33 Suppl:228-237
-
(2003)
Nat Genet
, vol.33
, Issue.SUPPL.
, pp. 228-237
-
-
Botstein, D.1
Risch, H.2
-
7
-
-
0031018819
-
Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus
-
Vafiadis P, Bennett ST, Todd JA, Nadeau J, Grabs R, Goodyer CG, Wickramasinghe S, Colle E, Polychronakos C. Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat Genet. 1997;15:289-292
-
(1997)
Nat Genet
, vol.15
, pp. 289-292
-
-
Vafiadis, P.1
Bennett, S.T.2
Todd, J.A.3
Nadeau, J.4
Grabs, R.5
Goodyer, C.G.6
Wickramasinghe, S.7
Colle, E.8
Polychronakos, C.9
-
8
-
-
18244421874
-
The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes
-
Pugliese A, Zeller M, Fernandez A Jr, Zalcberg LJ, Bartlett RJ, Ricordi C, Pietropaolo M, Eisenbarth GS, Bennett ST, Patel DD. The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nat Genet 1997;15:293-297
-
(1997)
Nat Genet
, vol.15
, pp. 293-297
-
-
Pugliese, A.1
Zeller, M.2
Fernandez Jr., A.3
Zalcberg, L.J.4
Bartlett, R.J.5
Ricordi, C.6
Pietropaolo, M.7
Eisenbarth, G.S.8
Bennett, S.T.9
Patel, D.D.10
-
9
-
-
0028301977
-
T-cell tolerance toward a transgenic beta-cell antigen and transcription of endogenous pancreatic genes in thymus
-
Jolicoeur C, Hanahan D, Smith KM. T-cell tolerance toward a transgenic beta-cell antigen and transcription of endogenous pancreatic genes in thymus. Proc Natl Acad Sci U S A. 1994;91:6707-6711
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 6707-6711
-
-
Jolicoeur, C.1
Hanahan, D.2
Smith, K.M.3
-
10
-
-
0035171545
-
Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self
-
Derbinski J, Schulte A, Kyewski B, Klein L. Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self. Nat Immunol 2001;2:1032-1039
-
(2001)
Nat Immunol
, vol.2
, pp. 1032-1039
-
-
Derbinski, J.1
Schulte, A.2
Kyewski, B.3
Klein, L.4
-
11
-
-
0037648405
-
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
-
Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain C, Rainbow DB, Hunter KM, Smith AN, Di Genova C, Herr MH, Dahlman I, Poyne F, Smyth D, Lowe C, Twells RC, Howlett S, Healy B, Nutland S, Rance HE, Everett V, Smink LJ, Lam AC, Cordell HJ, Walker NM, Bordin C, Hulme J, Motzo C, Cucca F, Hess JF, Metzker ML, Rogers J, Gregory S, Allahabadia A, Nithiyananthan R, Tuomilehto-Wolf E, Tuomilehto J, Bingley P, Gillespie KM, Undlien DE, Ronningen KS, Guja C, Ionescu-Tirgoviste C, Savage DA, Maxwell AP, Carson DJ, Patterson CC, Franklyn JA, Clayton DC, Peterson LB, Wicker LS, Todd JA, Gough SC. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003;423(6939):506-511
-
(2003)
Nature
, vol.423
, Issue.6939
, pp. 506-511
-
-
Ueda, H.1
Howson, J.M.2
Esposito, L.3
Heward, J.4
Snook, H.5
Chamberlain, C.6
Rainbow, D.B.7
Hunter, K.M.8
Smith, A.N.9
Di Genova, C.10
Herr, M.H.11
Dahlman, I.12
Poyne, F.13
Smyth, D.14
Lowe, C.15
Twells, R.C.16
Howlett, S.17
Healy, B.18
Nutland, S.19
Rance, H.E.20
Everett, V.21
Smink, L.J.22
Lam, A.C.23
Cordell, H.J.24
Walker, N.M.25
Bordin, C.26
Hulme, J.27
Motzo, C.28
Cucca, F.29
Hess, J.F.30
Metzker, M.L.31
Rogers, J.32
Gregory, S.33
Allahabadia, A.34
Nithiyananthan, R.35
Tuomilehto-Wolf, E.36
Tuomilehto, J.37
Bingley, P.38
Gillespie, K.M.39
Undlien, D.E.40
Ronningen, K.S.41
Guja, C.42
Ionescu-Tirgoviste, C.43
Savage, D.A.44
Maxwell, A.P.45
Carson, D.J.46
Patterson, C.C.47
Franklyn, J.A.48
Clayton, D.C.49
Peterson, L.B.50
Wicker, L.S.51
Todd, J.A.52
Gough, S.C.53
more..
-
12
-
-
10744224159
-
A survey of genetic and epigenetic variation affecting human gene expression
-
Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brandstrom H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl MC, Naumova AK, Sinnett D, Hudson TJ. A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics 2004;16:184-193
-
(2004)
Physiol Genomics
, vol.16
, pp. 184-193
-
-
Pastinen, T.1
Sladek, R.2
Gurd, S.3
Sammak, A.4
Ge, B.5
Lepage, P.6
Lavergne, K.7
Villeneuve, A.8
Gaudin, T.9
Brandstrom, H.10
Beck, A.11
Verner, A.12
Kingsley, J.13
Harmsen, E.14
Labuda, D.15
Morgan, K.16
Vohl, M.C.17
Naumova, A.K.18
Sinnett, D.19
Hudson, T.J.20
more..
-
13
-
-
0037119584
-
Related Articles, Links Allelic variation in human gene expression
-
Yan H, Yuan W, Velculescu VE, Vogelstein B, Kinzler KW. Related Articles, Links Allelic variation in human gene expression. Science. 2002;297(5584):1143
-
(2002)
Science
, vol.297
, Issue.5584
, pp. 1143
-
-
Yan, H.1
Yuan, W.2
Velculescu, V.E.3
Vogelstein, B.4
Kinzler, K.W.5
-
14
-
-
0029805706
-
The new genomics: Global views of biology
-
Lander ES. The new genomics: global views of biology. Science 1996;274(5287):536-539
-
(1996)
Science
, vol.274
, Issue.5287
, pp. 536-539
-
-
Lander, E.S.1
-
15
-
-
0023135007
-
Assessing the role of HLA-linked and unlinked determinants of disease
-
Risch N. Assessing the role of HLA-linked and unlinked determinants of disease. Am J Hum Genet 1987;40:1-14
-
(1987)
Am J Hum Genet
, vol.40
, pp. 1-14
-
-
Risch, N.1
-
16
-
-
0032532064
-
Evidence for oligogenic inheritance of type 1 diabetes in a large Bedouin Arab family
-
Verge CF, Vardi P, Babu S, Bao F, Erlich HA, Bugawan T, Tiosano D, Yu L, Eisenbarth GS, Fain PR. Evidence for oligogenic inheritance of type 1 diabetes in a large Bedouin Arab family. J Clin Invest 1998;102:1569-1575
-
(1998)
J Clin Invest
, vol.102
, pp. 1569-1575
-
-
Verge, C.F.1
Vardi, P.2
Babu, S.3
Bao, F.4
Erlich, H.A.5
Bugawan, T.6
Tiosano, D.7
Yu, L.8
Eisenbarth, G.S.9
Fain, P.R.10
-
17
-
-
0034821661
-
Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families
-
Cox NJ, Wapelhorst B, Morrison VA, Johnson L, Pinchuk L, Spielman RS, Todd JA, Concannon P. Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. Am J Hum Genet 2001;69:820-830
-
(2001)
Am J Hum Genet
, vol.69
, pp. 820-830
-
-
Cox, N.J.1
Wapelhorst, B.2
Morrison, V.A.3
Johnson, L.4
Pinchuk, L.5
Spielman, R.S.6
Todd, J.A.7
Concannon, P.8
-
18
-
-
0029741063
-
The future of genetic studies of complex human diseases
-
Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996;273(5281):1516-1517
-
(1996)
Science
, vol.273
, Issue.5281
, pp. 1516-1517
-
-
Risch, N.1
Merikangas, K.2
-
19
-
-
0034791035
-
High-resolution haplotype structure in the human genome
-
MJ Daly, JD Rioux, SF Schaffner, TJ Hudson, ES Lander. High-resolution haplotype structure in the human genome Nature Genetics 2001;29:229-232
-
(2001)
Nature Genetics
, vol.29
, pp. 229-232
-
-
Daly, M.J.1
Rioux, J.D.2
Schaffner, S.F.3
Hudson, T.J.4
Lander, E.S.5
-
20
-
-
0034795550
-
Intensely punctate meiotic recombination in the class Il region of the major histocompatibility complex
-
Jeffreys AJ, Kauppi L, Neumann R. Intensely punctate meiotic recombination in the class Il region of the major histocompatibility complex Nature Genetics 2001;29:217-222
-
(2001)
Nature Genetics
, vol.29
, pp. 217-222
-
-
Jeffreys, A.J.1
Kauppi, L.2
Neumann, R.3
-
21
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D. The structure of haplotype blocks in the human genome. Science 2002;296(5576):2225-2229
-
(2002)
Science
, vol.296
, Issue.5576
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
Moore, J.M.4
Roy, J.5
Blumenstiel, B.6
Higgins, J.7
DeFelice, M.8
Lochner, A.9
Faggart, M.10
Liu-Cordero, S.N.11
Rotimi, C.12
Adeyemo, A.13
Cooper, R.14
Ward, R.15
Lander, E.S.16
Daly, M.J.17
Altshuler, D.18
-
22
-
-
0002886774
-
Molecular and biochemical analysis of the MODY syndromes
-
Winter WE. Molecular and biochemical analysis of the MODY syndromes. Pediatr Diabetes 2000;1(2):88-117
-
(2000)
Pediatr Diabetes
, vol.1
, Issue.2
, pp. 88-117
-
-
Winter, W.E.1
-
23
-
-
3042626621
-
Animal models of spontaneous autoimmune diabetes: Notes on their relevance to the human disease
-
Polychronakos C. Animal models of spontaneous autoimmune diabetes: notes on their relevance to the human disease. Curr Diab Rep 2004;4:151-154
-
(2004)
Curr Diab Rep
, vol.4
, pp. 151-154
-
-
Polychronakos, C.1
|