-
1
-
-
77955505564
-
Biological, clinical and population relevance of 95 loci for blood lipids
-
doi:10.1038/nature09270
-
Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466: 707-713. doi:10.1038/nature09270.
-
(2010)
Nature
, vol.466
, pp. 707-713
-
-
Teslovich, T.M.1
Musunuru, K.2
Smith, A.V.3
Edmondson, A.C.4
Stylianou, I.M.5
-
2
-
-
84887099827
-
Discovery and refinement of loci associated with lipid levels
-
doi:10.1038/ng.2797
-
Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, et al. (2013) Discovery and refinement of loci associated with lipid levels. Nat Genet 45: 1274-1283. doi:10.1038/ng.2797.
-
(2013)
Nat Genet
, vol.45
, pp. 1274-1283
-
-
Willer, C.J.1
Schmidt, E.M.2
Sengupta, S.3
Peloso, G.M.4
Gustafsson, S.5
-
3
-
-
34347348166
-
Challenges and standards in integrating surveys of structural variation
-
doi:10.1038/ng2093
-
Scherer SW, Lee C, Birney E, Altshuler DM, Eichler EE, et al. (2007) Challenges and standards in integrating surveys of structural variation. Nat Genet 39: S7-15. doi:10.1038/ng2093.
-
(2007)
Nat Genet
, vol.39
-
-
Scherer, S.W.1
Lee, C.2
Birney, E.3
Altshuler, D.M.4
Eichler, E.E.5
-
4
-
-
84876523427
-
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes
-
doi:10.1101/gr.148718.112
-
Montgomery SB, Goode DL, Kvikstad E, Albers CA, Zhang ZD, et al. (2013) The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res 23: 749-761. doi:10.1101/gr.148718.112.
-
(2013)
Genome Res
, vol.23
, pp. 749-761
-
-
Montgomery, S.B.1
Goode, D.L.2
Kvikstad, E.3
Albers, C.A.4
Zhang, Z.D.5
-
5
-
-
3042782819
-
Microsatellites: Simple sequences with complex evolution
-
doi:10.1038/nrg1348
-
Ellegren H (2004) Microsatellites: simple sequences with complex evolution. Nat Rev Genet 5: 435-445. doi:10.1038/nrg1348.
-
(2004)
Nat Rev Genet
, vol.5
, pp. 435-445
-
-
Ellegren, H.1
-
6
-
-
84860560195
-
Microsatellite markers for linkage and association studies
-
doi:10.1101/pdb.top068510
-
Gulcher J (2012) Microsatellite markers for linkage and association studies. Cold Spring Harb Protoc 2012: 425-432. doi:10.1101/pdb.top068510.
-
(2012)
Cold Spring Harb Protoc
, vol.2012
, pp. 425-432
-
-
Gulcher, J.1
-
7
-
-
46449113997
-
The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases
-
doi:10.1101/gr.070409.107
-
Usdin K (2008) The biological effects of simple tandem repeats: lessons from the repeat expansion diseases. Genome Res 18: 1011-1019. doi:10.1101/gr.070409.107.
-
(2008)
Genome Res
, vol.18
, pp. 1011-1019
-
-
Usdin, K.1
-
8
-
-
84873559405
-
Microsatellite tandem repeats are abundant in human promoters and are associated with regulatory elements
-
doi:10.1371/journal.pone.0054710
-
Sawaya S, Bagshaw A, Buschiazzo E, Kumar P, Chowdhury S, et al. (2013) Microsatellite tandem repeats are abundant in human promoters and are associated with regulatory elements. PLoS One 8: e54710. doi:10.1371/journal.pone.0054710.
-
(2013)
PLoS One
, vol.8
-
-
Sawaya, S.1
Bagshaw, A.2
Buschiazzo, E.3
Kumar, P.4
Chowdhury, S.5
-
9
-
-
75149154292
-
Tandem repeat polymorphisms: Modulators of disease susceptibility and candidates for "missing heritability"
-
doi:10.1016/j.tig.2009.11.008
-
Hannan AJ (2010) Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for "missing heritability". Trends Genet 26: 59-65. doi:10.1016/j.tig.2009.11.008.
-
(2010)
Trends Genet
, vol.26
, pp. 59-65
-
-
Hannan, A.J.1
-
10
-
-
77957751665
-
Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: The SAPALDIA cohort
-
doi:10.1016/j.humimm.2010.08.008
-
Hersberger M, Thun G-A, Imboden M, Brandstätter A, Waechter V, et al. (2010) Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: the SAPALDIA cohort. Hum Immunol 71: 1154-1160. doi:10.1016/j.humimm. 2010.08.008.
-
(2010)
Hum Immunol
, vol.71
, pp. 1154-1160
-
-
Hersberger, M.1
Thun, G.-A.2
Imboden, M.3
Brandstätter, A.4
Waechter, V.5
-
11
-
-
53749088453
-
Pentanucleotide repeat polymorphism, lipoprotein(a) levels, and risk of ischemic heart disease
-
doi:10.1210/jc.2008-0830
-
Kamstrup PR, Tybjaerg-Hansen A, Steffensen R, Nordestgaard BG (2008) Pentanucleotide repeat polymorphism, lipoprotein(a) levels, and risk of ischemic heart disease. J Clin Endocrinol Metab 93: 3769-3776. doi:10.1210/jc.2008-0830.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 3769-3776
-
-
Kamstrup, P.R.1
Tybjaerg-Hansen, A.2
Steffensen, R.3
Nordestgaard, B.G.4
-
12
-
-
0029145665
-
A pentanucleotide repeat polymorphism in the 59 control region of the apolipoprotein(a) gene is associated with lipoprotein(a) plasma concentrations in Caucasians
-
doi:10.1172/JCI118015
-
Trommsdorff M, Köchl S, Lingenhel A, Kronenberg F, Delport R, et al. (1995) A pentanucleotide repeat polymorphism in the 59 control region of the apolipoprotein(a) gene is associated with lipoprotein(a) plasma concentrations in Caucasians. J Clin Invest 96: 150-157. doi:10.1172/JCI118015.
-
(1995)
J Clin Invest
, vol.96
, pp. 150-157
-
-
Trommsdorff, M.1
Köchl, S.2
Lingenhel, A.3
Kronenberg, F.4
Delport, R.5
-
13
-
-
33749524440
-
Association between the UGT1A1*28 allele, bilirubin levels, and coronary heart disease in the Framingham Heart Study
-
DOI 10.1161/CIRCULATIONAHA.106.633206, PII 0000301720061003000009
-
Lin J-P, O'Donnell CJ, Schwaiger JP, Cupples LA, Lingenhel A, et al. (2006) Association between the UGT1A1*28 allele, bilirubin levels, and coronary heart disease in the Framingham Heart Study. Circulation 114: 1476-1481. doi:10.1161/CIRCULATIONAHA.106.633206. (Pubitemid 44527002)
-
(2006)
Circulation
, vol.114
, Issue.14
, pp. 1476-1481
-
-
Lin, J.-P.1
O'Donnell, C.J.2
Schwaiger, J.P.3
Cupples, L.A.4
Lingenhel, A.5
Hunt, S.C.6
Yang, S.7
Kronenberg, F.8
-
14
-
-
0034738137
-
Linkage of the cholesteryl ester transfer protein (CETP) gene to LDL particle size: Use of a novel tetranucleotide repeat within the CETP promoter
-
Talmud PJ, Edwards KL, Turner CM, Newman B, Palmen JM, et al. (2000) Linkage of the cholesteryl ester transfer protein (CETP) gene to LDL particle size: use of a novel tetranucleotide repeat within the CETP promoter. Circulation 101: 2461-2466. (Pubitemid 30366248)
-
(2000)
Circulation
, vol.101
, Issue.21
, pp. 2461-2466
-
-
Talmud, P.J.1
Edwards, K.L.2
Turner, C.M.3
Newman, B.4
Palmen, J.M.5
Humphries, S.E.6
Austin, M.A.7
-
15
-
-
4344591416
-
Highly polymorphic repeat region in the CETP promoter induces unusual DNA structure
-
DOI 10.1016/j.bbalip.2004.06.002, PII S1388198104000885
-
Lira ME, Lloyd DB, Hallowell S, Milos PM, Thompson JF (2004) Highly polymorphic repeat region in the CETP promoter induces unusual DNA structure. Biochim Biophys Acta 1684: 38-45. doi:10.1016/j.bbalip.2004.06.002. (Pubitemid 39140866)
-
(2004)
Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids
, vol.1684
, Issue.1-3
, pp. 38-45
-
-
Lira, M.E.1
Lloyd, D.B.2
Hallowell, S.3
Milos, P.M.4
Thompson, J.F.5
-
16
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
doi:10.1038/nature08494
-
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, et al. (2009) Finding the missing heritability of complex diseases. Nature 461: 747-753. doi:10.1038/nature08494.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
-
17
-
-
79957967458
-
Natural genetic variation caused by small insertions and deletions in the human genome
-
doi:10.1101/gr.115907.110
-
Mills RE, Pittard WS, Mullaney JM, Farooq U, Creasy TH, et al. (2011) Natural genetic variation caused by small insertions and deletions in the human genome. Genome Res 21: 830-839. doi:10.1101/gr.115907.110.
-
(2011)
Genome Res
, vol.21
, pp. 830-839
-
-
Mills, R.E.1
Pittard, W.S.2
Mullaney, J.M.3
Farooq, U.4
Creasy, T.H.5
-
19
-
-
84869498692
-
Evaluation of gene-obesity interaction effects on cholesterol levels: A genetic predisposition score on HDL-cholesterol is modified by obesity
-
doi:10.1016/j.atherosclerosis.2012.09.016
-
Lamina C, Forer L, Schönherr S, Kollerits B, Ried JS, et al. (2012) Evaluation of gene-obesity interaction effects on cholesterol levels: a genetic predisposition score on HDL-cholesterol is modified by obesity. Atherosclerosis 225: 363-369. doi:10.1016/j.atherosclerosis.2012.09.016.
-
(2012)
Atherosclerosis
, vol.225
, pp. 363-369
-
-
Lamina, C.1
Forer, L.2
Schönherr, S.3
Kollerits, B.4
Ried, J.S.5
-
20
-
-
33644751829
-
Genetic architecture of the APM1 gene and its influence on adiponectin plasma levels and parameters of the metabolic syndrome in 1,727 healthy Caucasians
-
DOI 10.2337/diabetes.55.02.06.db05-0747
-
Heid IM, Wagner SA, Gohlke H, Iglseder B, Mueller JC, et al. (2006) Genetic architecture of the APM1 gene and its influence on adiponectin plasma levels and parameters of the metabolic syndrome in 1,727 healthy Caucasians. Diabetes 55: 375-384. (Pubitemid 43343266)
-
(2006)
Diabetes
, vol.55
, Issue.2
, pp. 375-384
-
-
Heid, I.M.1
Wagner, S.A.2
Gohlke, H.3
Iglseder, B.4
Mueller, J.C.5
Cip, P.6
Ladurner, G.7
Reiter, R.8
Stadlmayr, A.9
Mackevics, V.10
Illig, T.11
Kronenberg, F.12
Paulweber, B.13
-
21
-
-
38849170546
-
Sequence-based estimation of minisatellite and microsatellite repeat variability
-
DOI 10.1101/gr.6554007
-
Legendre M, Pochet N, Pak T, Verstrepen KJ (2007) Sequence-based estimation of minisatellite and microsatellite repeat variability. Genome Res 17: 1787-1796. doi:10.1101/gr.6554007. (Pubitemid 351360003)
-
(2007)
Genome Research
, vol.17
, Issue.12
, pp. 1787-1796
-
-
Legendre, M.1
Pochet, N.2
Pak, T.3
Verstrepen, K.J.4
-
22
-
-
0027183463
-
Shadow bands seen when typing polymorphic dinucleotide repeats: Some causes and cures
-
Litt M, Hauge X, Sharma V (1993) Shadow bands seen when typing polymorphic dinucleotide repeats: some causes and cures. Biotechniques 15: 280-284.
-
(1993)
Biotechniques
, vol.15
, pp. 280-284
-
-
Litt, M.1
Hauge, X.2
Sharma, V.3
-
23
-
-
0027300692
-
The determination of the sequences present in the shadow bands of a dinucleotide repeat PCR
-
Murray V, Monchawin C, England PR (1993) The determination of the sequences present in the shadow bands of a dinucleotide repeat PCR. Nucleic Acids Res 21: 2395-2398. (Pubitemid 23180817)
-
(1993)
Nucleic Acids Research
, vol.21
, Issue.10
, pp. 2395-2398
-
-
Murray, V.1
Monchawin, C.2
England, P.R.3
-
24
-
-
0029048886
-
Validation and population studies of the loci LDLR, GYPA, HBGG, D7S8, and Gc (PM loci), and HLA-DQ alpha using a multiplex amplification and typing procedure
-
Budowle B, Lindsey JA, DeCou JA, Koons BW, Giusti AM, et al. (1995) Validation and population studies of the loci LDLR, GYPA, HBGG, D7S8, and Gc (PM loci), and HLA-DQ alpha using a multiplex amplification and typing procedure. J Forensic Sci 40: 45-54.
-
(1995)
J Forensic Sci
, vol.40
, pp. 45-54
-
-
Budowle, B.1
Lindsey, J.A.2
DeCou, J.A.3
Koons, B.W.4
Giusti, A.M.5
-
25
-
-
0029045257
-
The use of the STRs HUMTH01, HUMVWA31/A, HUMF13A1, HUMFES/FPS, HUMLPL in forensic application: Validation studies and population data for Galicia (NW Spain)
-
Pestoni C, Lareu MV, Rodríguez MS, Muñoz I, Barros F, et al. (1995) The use of the STRs HUMTH01, HUMVWA31/A, HUMF13A1, HUMFES/FPS, HUMLPL in forensic application: validation studies and population data for Galicia (NW Spain). Int J Legal Med 107: 283-290.
-
(1995)
Int J Legal Med
, vol.107
, pp. 283-290
-
-
Pestoni, C.1
Lareu, M.V.2
Rodríguez, M.S.3
Muñoz, I.4
Barros, F.5
-
26
-
-
4344606590
-
MICRO-CHECKER: Software for identifying and correcting genotyping errors in microsatellite data
-
DOI 10.1111/j.1471-8286.2004.00684.x
-
Van Oosterhout C, Hutchinson WF, Wills DPM, Shipley P (2004) micro-checker: software for identifying and correcting genotyping errors in microsatellite data. Molecular Ecology Notes 4: 535-538. doi:10.1111/j.1471- 8286.2004.00684.x. (Pubitemid 39147523)
-
(2004)
Molecular Ecology Notes
, vol.4
, Issue.3
, pp. 535-538
-
-
Van Oosterhout, C.1
Hutchinson, W.F.2
Wills, D.P.M.3
Shipley, P.4
-
27
-
-
85007110786
-
Arlequin (version 3.0): An integrated software package for population genetics data analysis
-
Excoffier L, Laval G, Schneider S (2005) Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol Bioinform Online 1: 47-50.
-
(2005)
Evol Bioinform Online
, vol.1
, pp. 47-50
-
-
Excoffier, L.1
Laval, G.2
Schneider, S.3
-
28
-
-
34347344976
-
A new multipoint method for genome-wide association studies by imputation of genotypes
-
DOI 10.1038/ng2088, PII NG2088
-
Marchini J, Howie B, Myers S, McVean G, Donnelly P (2007) A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 39: 906-913. doi:10.1038/ng2088. (Pubitemid 47014502)
-
(2007)
Nature Genetics
, vol.39
, Issue.7
, pp. 906-913
-
-
Marchini, J.1
Howie, B.2
Myers, S.3
McVean, G.4
Donnelly, P.5
-
29
-
-
70449403261
-
Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteins
-
doi:10.1093/hmg/ddp424
-
Kollerits B, Coassin S, Beckmann ND, Teumer A, Döring A, et al. (2009) Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteins. Hum Mol Genet 18: 4669-4676. doi:10.1093/hmg/ddp424.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4669-4676
-
-
Kollerits, B.1
Coassin, S.2
Beckmann, N.D.3
Teumer, A.4
Döring, A.5
-
30
-
-
77953808087
-
Genotype imputation for genome-wide association studies
-
doi:10.1038/nrg2796
-
Marchini J, Howie B (2010) Genotype imputation for genome-wide association studies. Nat Rev Genet 11: 499-511. doi:10.1038/nrg2796.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 499-511
-
-
Marchini, J.1
Howie, B.2
-
31
-
-
77956586071
-
LocusZoom: Regional visualization of genome-wide association scan results
-
doi:10.1093/bioinformatics/btq419
-
Pruim RJ, Welch RP, Sanna S, Teslovich TM, Chines PS, et al. (2010) LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 26: 2336-2337. doi:10.1093/bioinformatics/btq419.
-
(2010)
Bioinformatics
, vol.26
, pp. 2336-2337
-
-
Pruim, R.J.1
Welch, R.P.2
Sanna, S.3
Teslovich, T.M.4
Chines, P.S.5
-
32
-
-
0037786655
-
Polymorphisms in the CETP gene and association with CETP mass and HDL levels
-
DOI 10.1016/S0021-9150(03)00005-4
-
Thompson JF, Lira ME, Durham LK, Clark RW, Bamberger MJ, et al. (2003) Polymorphisms in the CETP gene and association with CETP mass and HDL levels. Atherosclerosis 167: 195-204. doi:10.1016/S0021-9150(03)00005-4. (Pubitemid 36773520)
-
(2003)
Atherosclerosis
, vol.167
, Issue.2
, pp. 195-204
-
-
Thompson, J.F.1
Lira, M.E.2
Durham, L.K.3
Clark, R.W.4
Bamberger, M.J.5
Milos, P.M.6
-
33
-
-
0033979310
-
LPA gene: Interaction between the apolipoprotein(a) size ('kringle IV' repeat) polymorphism and a pentanucleotide repeat polymorphism influences Lp(a) lipoprotein level
-
DOI 10.1046/j.1365-2796.2000.00628.x
-
Røsby O, Berg K (2000) LPA gene: interaction between the apolipoprotein(a) size ('kringle IV' repeat) polymorphism and a pentanucleotide repeat polymorphism influences Lp(a) lipoprotein level. J Intern Med 247: 139-152. (Pubitemid 30073175)
-
(2000)
Journal of Internal Medicine
, vol.247
, Issue.1
, pp. 139-152
-
-
Rosby, O.1
Berg, K.2
-
34
-
-
78650437255
-
A genomic portrait of human microsatellite variation
-
doi:10.1093/molbev/msq198
-
Payseur BA, Jing P, Haasl RJ (2011) A genomic portrait of human microsatellite variation. Mol Biol Evol 28: 303-312. doi:10.1093/molbev/msq198.
-
(2011)
Mol Biol Evol
, vol.28
, pp. 303-312
-
-
Payseur, B.A.1
Jing, P.2
Haasl, R.J.3
-
35
-
-
34250305146
-
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
-
doi:10.1038/nature05874.
-
Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, et al. (2007) Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447: 799-816. doi:10.1038/nature05874.
-
(2007)
Nature
, vol.447
, pp. 799-816
-
-
Birney, E.1
Stamatoyannopoulos, J.A.2
Dutta, A.3
Guigó, R.4
Gingeras, T.R.5
-
36
-
-
0028867826
-
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
-
doi:10.1056/NEJM199511023331802
-
Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, et al. (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 333: 1171-1175. doi:10.1056/ NEJM199511023331802.
-
(1995)
N Engl J Med
, vol.333
, pp. 1171-1175
-
-
Bosma, P.J.1
Chowdhury, J.R.2
Bakker, C.3
Gantla, S.4
De Boer, A.5
-
37
-
-
34247597891
-
Molecular pathogenesis of Gilbert's syndrome: Decreased TATA-binding protein binding affinity of UGT1A1 gene promoter
-
DOI 10.1097/FPC.0b013e328012d0da, PII 0121301120070400000001
-
Hsieh T-Y, Shiu T-Y, Huang S-M, Lin H-H, Lee T-C, et al. (2007) Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. Pharmacogenet Genomics 17: 229-236. doi:10.1097/FPC.0b013e328012d0da. (Pubitemid 46668047)
-
(2007)
Pharmacogenetics and Genomics
, vol.17
, Issue.4
, pp. 229-236
-
-
Hsieh, T.-Y.1
Shiu, T.-Y.2
Huang, S.-M.3
Lin, H.-H.4
Lee, T.-C.5
Chen, P.-J.6
Chu, H.-C.7
Chang, W.-K.8
Jeng, K.-S.9
Lai, M.M.C.10
Chao, Y.-C.11
|