-
1
-
-
0034660559
-
Searching for genetic determinants in the new millennium
-
Risch NJ. Searching for genetic determinants in the new millennium. Nature 2000;405:847-56.
-
(2000)
Nature
, vol.405
, pp. 847-856
-
-
Risch, N.J.1
-
2
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
-
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.
-
(2003)
Nat Genet
, vol.33
, Issue.SUPPL.
, pp. 228-237
-
-
Botstein, D.1
Risch, N.2
-
3
-
-
4444272418
-
The search for low-penetrance cancer susceptibility alleles
-
Houlston RS, Peto J. The search for low-penetrance cancer susceptibility alleles. Oncogene 2004;23:6471-6.
-
(2004)
Oncogene
, vol.23
, pp. 6471-6476
-
-
Houlston, R.S.1
Peto, J.2
-
5
-
-
0742288585
-
The complex interplay among factors that influence allelic association
-
Zondervan KT, Cardon LR. The complex interplay among factors that influence allelic association. Nat Rev Genet 2004;5:89-100.
-
(2004)
Nat Rev Genet
, vol.5
, pp. 89-100
-
-
Zondervan, K.T.1
Cardon, L.R.2
-
7
-
-
0036578764
-
Polygenic susceptibility to breast cancer and implications for prevention
-
Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 2002;31:33-6.
-
(2002)
Nat Genet
, vol.31
, pp. 33-36
-
-
Pharoah, P.D.1
Antoniou, A.2
Bobrow, M.3
Zimmern, R.L.4
Easton, D.F.5
Ponder, B.A.6
-
8
-
-
2642583283
-
Mapping complex disease loci in whole-genome association studies
-
Carlson CS, Eberle MA, Kruglyak L, Nickerson DA. Mapping complex disease loci in whole-genome association studies. Nature 2004;429:446-52.
-
(2004)
Nature
, vol.429
, pp. 446-452
-
-
Carlson, C.S.1
Eberle, M.A.2
Kruglyak, L.3
Nickerson, D.A.4
-
9
-
-
13144306071
-
Genome-wide association studies for common diseases and complex traits
-
Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 2005;6:95-108.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 95-108
-
-
Hirschhorn, J.N.1
Daly, M.J.2
-
10
-
-
0344406770
-
Large-scale search of SNPs for type 2 DM susceptibility genes in a Japanese population
-
Daimon M, Ji G, Saitoh T, et al. Large-scale search of SNPs for type 2 DM susceptibility genes in a Japanese population. Biochem Biophys Res Commun 2003;302:751-8.
-
(2003)
Biochem Biophys Res Commun
, vol.302
, pp. 751-758
-
-
Daimon, M.1
Ji, G.2
Saitoh, T.3
-
11
-
-
11144355082
-
A candidate gene association study on preterm delivery: Application of high-throughput genotyping technology and advanced statistical methods
-
Hao K, Wang X, Niu T, et al. A candidate gene association study on preterm delivery: application of high-throughput genotyping technology and advanced statistical methods. Hum Mol Genet 2004;13:683-91.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 683-691
-
-
Hao, K.1
Wang, X.2
Niu, T.3
-
12
-
-
10844227446
-
Large-scale association study identifies ICAM gene region as breast and prostate cancer susceptibility locus
-
Kammerer S, Roth RB, Reneland R, et al. Large-scale association study identifies ICAM gene region as breast and prostate cancer susceptibility locus. Cancer Res 2004;64:8906-10.
-
(2004)
Cancer Res
, vol.64
, pp. 8906-8910
-
-
Kammerer, S.1
Roth, R.B.2
Reneland, R.3
-
13
-
-
20144388722
-
Genome-wide association study in esophageal cancer using GeneChip mapping 10K array
-
Hu N, Wang C, Hu Y, et al. Genome-wide association study in esophageal cancer using GeneChip mapping 10K array. Cancer Res 2005;65:2542-6.
-
(2005)
Cancer Res
, vol.65
, pp. 2542-2546
-
-
Hu, N.1
Wang, C.2
Hu, Y.3
-
14
-
-
8144228132
-
Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family
-
Li Y, Nowotny P, Holmans P, et al. Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family. Proc Natl Acad Sci U S A 2004;101:15688-93.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 15688-15693
-
-
Li, Y.1
Nowotny, P.2
Holmans, P.3
-
15
-
-
4644303054
-
Investigation of serotonin-related genes in antidepressant response
-
Peters EJ, Slager SL, McGrath PJ, Knowles JA, Hamilton SP. Investigation of serotonin-related genes in antidepressant response. Mol Psychiatry 2004;9:879-89.
-
(2004)
Mol Psychiatry
, vol.9
, pp. 879-889
-
-
Peters, E.J.1
Slager, S.L.2
McGrath, P.J.3
Knowles, J.A.4
Hamilton, S.P.5
-
16
-
-
23944439856
-
Genome-wide association study to identify SNPs conferring risk of myocardial infarction and their functional analyses
-
Ozaki K, Tanaka T. Genome-wide association study to identify SNPs conferring risk of myocardial infarction and their functional analyses. Cell Mol Life Sci 2005;62:1804-13.
-
(2005)
Cell Mol Life Sci
, vol.62
, pp. 1804-1813
-
-
Ozaki, K.1
Tanaka, T.2
-
17
-
-
4143134235
-
The future of association studies: Gene-based analysis and replication
-
Neale BM, Sham PC. The future of association studies: gene-based analysis and replication. Am J Hum Genet 2004;75:353-62.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 353-362
-
-
Neale, B.M.1
Sham, P.C.2
-
18
-
-
25444523242
-
Identification of four gene variants associated with myocardial infarction
-
Shiffman D, Ellis SG, Rowland CM, et al. Identification of four gene variants associated with myocardial infarction. Am J Hum Genet 2005;77:596-605.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 596-605
-
-
Shiffman, D.1
Ellis, S.G.2
Rowland, C.M.3
-
19
-
-
33645454794
-
Polymorphisms in the ICAM gene locus are not associated with breast cancer risk
-
Cox DG, Hankinson SE, Hunter DJ. Polymorphisms in the ICAM gene locus are not associated with breast cancer risk. Cancer Epidemiol Biomarkers Prev 2006;15:178-9.
-
(2006)
Cancer Epidemiol Biomarkers Prev
, vol.15
, pp. 178-179
-
-
Cox, D.G.1
Hankinson, S.E.2
Hunter, D.J.3
-
21
-
-
10744232814
-
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
-
Diez O, Osorio A, Duran M, et al. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat 2003;22:301-12.
-
(2003)
Hum Mutat
, vol.22
, pp. 301-312
-
-
Diez, O.1
Osorio, A.2
Duran, M.3
-
22
-
-
0038823932
-
The future of association studies of common cancers
-
Houlston RS, Peto J. The future of association studies of common cancers. Hum Genet 2003;112:434-5.
-
(2003)
Hum Genet
, vol.112
, pp. 434-435
-
-
Houlston, R.S.1
Peto, J.2
-
23
-
-
0142063079
-
Polygenic inheritance of breast cancer: Implications for design of association studies
-
Antoniou AC, Easton DF. Polygenic inheritance of breast cancer: implications for design of association studies. Genet Epidemiol 2003;25:190-202.
-
(2003)
Genet Epidemiol
, vol.25
, pp. 190-202
-
-
Antoniou, A.C.1
Easton, D.F.2
-
24
-
-
0034059581
-
Molecular analysis of the BRCA1 and HRCA2 genes in 32 breast and/or ovarian cancer Spanish families
-
Osorio A, Barroso A, Martinez B, et al. Molecular analysis of the BRCA1 and HRCA2 genes in 32 breast and/or ovarian cancer Spanish families. Br J Cancer 2000;82:1266-70.
-
(2000)
Br J Cancer
, vol.82
, pp. 1266-1270
-
-
Osorio, A.1
Barroso, A.2
Martinez, B.3
-
25
-
-
19944424422
-
Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patients
-
Kilpivaara O, Bartkova J, Eerola H, et al. Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patients. Int J Cancer 2005;113:575-80.
-
(2005)
Int J Cancer
, vol.113
, pp. 575-580
-
-
Kilpivaara, O.1
Bartkova, J.2
Eerola, H.3
-
26
-
-
0034692434
-
Population-based study of BRCA1 and HRCA2 mutations in 1035 unselected Finnish breast cancer patients
-
Syrjakoski K, Vahteristo P, Eerola H, et al. Population-based study of BRCA1 and HRCA2 mutations in 1035 unselected Finnish breast cancer patients. J Natl Cancer Inst 2000;92:1529-31.
-
(2000)
J Natl Cancer Inst
, vol.92
, pp. 1529-1531
-
-
Syrjakoski, K.1
Vahteristo, P.2
Eerola, H.3
-
27
-
-
0035793797
-
A probability model for predicting BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer families
-
Vahteristo P, Eerola H, Lamminen A, Blomqvist C, Nevanlinna H. A probability model for predicting BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer families. Br J Cancer 2001;84:704-8.
-
(2001)
Br J Cancer
, vol.84
, pp. 704-708
-
-
Vahteristo, P.1
Eerola, H.2
Lamminen, A.3
Blomqvist, C.4
Nevanlinna, H.5
-
28
-
-
9844239380
-
Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: Evidence for additional susceptibility genes
-
Vehmanen P, Friedman LS, Eerola H, et al. Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. Hum Mol Genet 1997;6:2309-15.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2309-2315
-
-
Vehmanen, P.1
Friedman, L.S.2
Eerola, H.3
-
29
-
-
79959503826
-
The International HapMap Project
-
The International HapMap Consortium
-
The International HapMap Consortium. The International HapMap Project. Nature 2003;426:789-96.
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
30
-
-
13444269543
-
Haploview: Analysis and visualization of LD and haplotype maps
-
Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-5.
-
(2005)
Bioinformatics
, vol.21
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
-
31
-
-
3242885830
-
PupaSNP Finder: A web tool for finding SNPs with putative effect at transcriptional level
-
Conde L, Vaquerizas JM, Santoyo J, et al. PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level. Nucleic Acids Res 2004;32:W242-8.
-
(2004)
Nucleic Acids Res
, vol.32
-
-
Conde, L.1
Vaquerizas, J.M.2
Santoyo, J.3
-
32
-
-
3242878193
-
ECR Browser: A tool for visualizing and accessing data from comparisons of multiple vertebrate genomes
-
Ovcharenko I, Nobrega MA, Loots GG, Stubbs L. ECR Browser: a tool for visualizing and accessing data from comparisons of multiple vertebrate genomes. Nucleic Acids Res 2004;32:W280-6.
-
(2004)
Nucleic Acids Res
, vol.32
-
-
Ovcharenko, I.1
Nobrega, M.A.2
Loots, G.G.3
Stubbs, L.4
-
33
-
-
0036275126
-
BeadArray technology: Enabling an accurate, cost-effective approach to high-throughput genotyping
-
60-1
-
Oliphant A, Barker DL, Stuelpnagel JR, Chee MS. BeadArray technology: enabling an accurate, cost-effective approach to high-throughput genotyping. Biotechniques 2002;33 Suppl:56-8, 60-1.
-
(2002)
Biotechniques
, vol.33
, Issue.SUPPL.
, pp. 56-58
-
-
Oliphant, A.1
Barker, D.L.2
Stuelpnagel, J.R.3
Chee, M.S.4
-
35
-
-
0033358548
-
Use of unlinked genetic markers to detect population stratification in association studies
-
Pritchard JK, Rosenberg NA. Use of unlinked genetic markers to detect population stratification in association studies. Am J Hum Genet 1999;65:220-8.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 220-228
-
-
Pritchard, J.K.1
Rosenberg, N.A.2
-
36
-
-
0034118493
-
Inference of population structure using multilocus genotype data
-
Pritchard JK, Stephens M, Donnelly P. Inference of population structure using multilocus genotype data. Genetics 2000;155:945-59.
-
(2000)
Genetics
, vol.155
, pp. 945-959
-
-
Pritchard, J.K.1
Stephens, M.2
Donnelly, P.3
-
37
-
-
0041817568
-
Inference of population structure using multilocus genotype data: Linked loci and correlated allele frequencies
-
Falush D, Stephens M, Pritchard JK. Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. Genetics 2003;164:1567-87.
-
(2003)
Genetics
, vol.164
, pp. 1567-1587
-
-
Falush, D.1
Stephens, M.2
Pritchard, J.K.3
-
38
-
-
30744434862
-
Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix
-
Li J, Li L. Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix. Heredity 2005;95:221-7.
-
(2005)
Heredity
, vol.95
, pp. 221-227
-
-
Li, J.1
Li, L.2
-
39
-
-
1842539516
-
A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other
-
Nyholt DR. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 2004;74:765-9.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 765-769
-
-
Nyholt, D.R.1
-
40
-
-
24744457502
-
Evaluation of Nyholt's procedure for multiple testing correction
-
author's reply
-
Nyholt DR. Evaluation of Nyholt's procedure for multiple testing correction [author's reply]. Hum Hered 2005;60:61-2.
-
(2005)
Hum Hered
, vol.60
, pp. 61-62
-
-
Nyholt, D.R.1
-
41
-
-
0003393711
-
-
StataCorp. College Station (TX): Stata Corporation
-
StataCorp. Stat Statistical Software: Release 8.0. In: College Station (TX): Stata Corporation: 2003.
-
(2003)
Stat Statistical Software: Release 8.0
-
-
-
42
-
-
0035829361
-
Controlling the false discovery rate in behavior genetics research
-
Benjamini Y, Drai D, Elmer G, Kafkafi N, Golani I. Controlling the false discovery rate in behavior genetics research. Behav Brain Res 2001;125:279-84.
-
(2001)
Behav Brain Res
, vol.125
, pp. 279-284
-
-
Benjamini, Y.1
Drai, D.2
Elmer, G.3
Kafkafi, N.4
Golani, I.5
-
43
-
-
32444438910
-
Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes
-
Ribas G, Gonzalez-Neira A, Salas A, et al. Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes. Hum Genet 2006;118:669-79.
-
(2006)
Hum Genet
, vol.118
, pp. 669-679
-
-
Ribas, G.1
Gonzalez-Neira, A.2
Salas, A.3
-
44
-
-
33745600574
-
Polymorphisms in nucleotide excision repair genes, smoking and breast cancer in African Americans and whites: A population-based case-control study
-
Mechanic LE, Millikan RC, Plaver J, et al. Polymorphisms in nucleotide excision repair genes, smoking and breast cancer in African Americans and whites: a population-based case-control study. Carcinogenesis 2006;27:1377-85.
-
(2006)
Carcinogenesis
, vol.27
, pp. 1377-1385
-
-
Mechanic, L.E.1
Millikan, R.C.2
Plaver, J.3
-
46
-
-
0242438893
-
Genomewide distribution of high-frequency, completely mismatching SNP haplotype pairs observed to be common across human populations
-
Zhang J, Rowe WL, Clark AG, Buetow KH. Genomewide distribution of high-frequency, completely mismatching SNP haplotype pairs observed to be common across human populations. Am J Hum Genet 2003;73:1073-81.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1073-1081
-
-
Zhang, J.1
Rowe, W.L.2
Clark, A.G.3
Buetow, K.H.4
-
47
-
-
26844547941
-
Genetic polymorphisms in DPF3 associated with risk of breast cancer and lymph node metastases
-
Hoyal CR, Kammerer S, Roth RB, et al. Genetic polymorphisms in DPF3 associated with risk of breast cancer and lymph node metastases. J Carcinog 2005;4:13.
-
(2005)
J Carcinog
, vol.4
, pp. 13
-
-
Hoyal, C.R.1
Kammerer, S.2
Roth, R.B.3
-
48
-
-
13844320403
-
Association of the NuMA region on chromosome 11q13 with breast cancer susceptibility
-
Kammerer S, Roth RB, Hoyal CR, et al. Association of the NuMA region on chromosome 11q13 with breast cancer susceptibility. Proc Natl Acad Sci U S A 2005;102:2004-9.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 2004-2009
-
-
Kammerer, S.1
Roth, R.B.2
Hoyal, C.R.3
-
49
-
-
0347416975
-
ERCC1/XPF removes the 3′ overhang from uncapped telomeres and represses formation of telomeric DNA-containing double minute chromosomes
-
Zhu XD, Niedernhofer L, Kuster B, Mann M, Hoeijmakers JH, de Lange T. ERCC1/XPF removes the 3′ overhang from uncapped telomeres and represses formation of telomeric DNA-containing double minute chromosomes. Mol Cell 2003;12:1489-98.
-
(2003)
Mol Cell
, vol.12
, pp. 1489-1498
-
-
Zhu, X.D.1
Niedernhofer, L.2
Kuster, B.3
Mann, M.4
Hoeijmakers, J.H.5
De Lange, T.6
-
50
-
-
20344362628
-
Gastrostomy in oropharyngeal cancer patients with ERCC4 (XPF) germline variants
-
Kornguth DG, Garden AS, Zheng Y, Dahlstrom KR, Wei Q, Sturgis EM. Gastrostomy in oropharyngeal cancer patients with ERCC4 (XPF) germline variants. Int J Radiat Oncol Biol Phys 2005;62:665-71.
-
(2005)
Int J Radiat Oncol Biol Phys
, vol.62
, pp. 665-671
-
-
Kornguth, D.G.1
Garden, A.S.2
Zheng, Y.3
Dahlstrom, K.R.4
Wei, Q.5
Sturgis, E.M.6
-
51
-
-
21044437488
-
Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer
-
Lee SA, Lee KM, Park WY, et al. Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer. Exp Mol Med 2005;37:86-90.
-
(2005)
Exp Mol Med
, vol.37
, pp. 86-90
-
-
Lee, S.A.1
Lee, K.M.2
Park, W.Y.3
-
52
-
-
31744448843
-
Conserved noncoding sequences are selectively constrained and not mutation cold spots
-
Drake JA, Bird C, Nemesh J, et al. Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nat Genet 2006;38:223-7.
-
(2006)
Nat Genet
, vol.38
, pp. 223-227
-
-
Drake, J.A.1
Bird, C.2
Nemesh, J.3
-
53
-
-
0344364566
-
An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis
-
Tokuhiro S, Yamada R, Chang X, et al. An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet 2003;35:341-8.
-
(2003)
Nat Genet
, vol.35
, pp. 341-348
-
-
Tokuhiro, S.1
Yamada, R.2
Chang, X.3
-
54
-
-
24144470503
-
USF1 and dyslipidemias: Converging evidence for a functional intronic variant
-
Naukkarinen J, Gentile M, Soro-Paavonen A, et al. USF1 and dyslipidemias: converging evidence for a functional intronic variant. Hum Mol Genet 2005;14:2595-605.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2595-2605
-
-
Naukkarinen, J.1
Gentile, M.2
Soro-Paavonen, A.3
-
55
-
-
0032870667
-
Transcriptional regulation of the human tissue inhibitor of metalloproteinases-1: Mapping transcriptional control in intron-1
-
Dean G, Clark IM. Transcriptional regulation of the human tissue inhibitor of metalloproteinases-1: mapping transcriptional control in intron-1. Ann N Y Acad Sci 1999;878:510-1.
-
(1999)
Ann N Y Acad Sci
, vol.878
, pp. 510-511
-
-
Dean, G.1
Clark, I.M.2
-
56
-
-
0033033627
-
Role of intron 1 in smooth muscle α-actin transcriptional regulation in activated mesangial cells in vivo
-
Kawada N, Moriyama T, Ando A, et al. Role of intron 1 in smooth muscle α-actin transcriptional regulation in activated mesangial cells in vivo. Kidney Int 1999;55:2338-48.
-
(1999)
Kidney Int
, vol.55
, pp. 2338-2348
-
-
Kawada, N.1
Moriyama, T.2
Ando, A.3
-
57
-
-
0032502746
-
Transcriptional regulation of the human nonmuscle myosin II heavy chain-A gene. Identification of three clustered cis-elements in intron-1 which modulate transcription in a cell type- and differentiation state-dependent manner
-
Beohar N, Kawamoto S. Transcriptional regulation of the human nonmuscle myosin II heavy chain-A gene. Identification of three clustered cis-elements in intron-1 which modulate transcription in a cell type- and differentiation state-dependent manner. J Biol Chem 1998;273:9168-78.
-
(1998)
J Biol Chem
, vol.273
, pp. 9168-9178
-
-
Beohar, N.1
Kawamoto, S.2
|