-
1
-
-
0033041179
-
Association of an extended haplotype in the tau gene with progressive supranuclear palsy
-
10.1093/hmg/8.4.711, 10072441
-
Baker M, Litvan I, Houlden H, Adamson J, Dickson D, Perez-Tur J, Hardy J, Lynch T, Bigio E, Hutton M. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet 1999, 8(4):711-715. 10.1093/hmg/8.4.711, 10072441.
-
(1999)
Hum Mol Genet
, vol.8
, Issue.4
, pp. 711-715
-
-
Baker, M.1
Litvan, I.2
Houlden, H.3
Adamson, J.4
Dickson, D.5
Perez-Tur, J.6
Hardy, J.7
Lynch, T.8
Bigio, E.9
Hutton, M.10
-
2
-
-
55949134996
-
Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders
-
10.1001/archneur.65.11.1473, 2680206, 19001166
-
Webb A, Miller B, Bonasera S, Boxer A, Karydas A, Wilhelmsen KC. Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders. Arch Neurol 2008, 65(11):1473-1478. 10.1001/archneur.65.11.1473, 2680206, 19001166.
-
(2008)
Arch Neurol
, vol.65
, Issue.11
, pp. 1473-1478
-
-
Webb, A.1
Miller, B.2
Bonasera, S.3
Boxer, A.4
Karydas, A.5
Wilhelmsen, K.C.6
-
3
-
-
4544297675
-
Linkage disequilibrium and association of MAPT H1 in Parkinson disease
-
10.1086/424492, 1182054, 15297935
-
Skipper L, Wilkes K, Toft M, Baker M, Lincoln S, Hulihan M, Ross OA, Hutton M, Aasly J, Farrer M. Linkage disequilibrium and association of MAPT H1 in Parkinson disease. Am J Hum Genet 2004, 75(4):669-677. 10.1086/424492, 1182054, 15297935.
-
(2004)
Am J Hum Genet
, vol.75
, Issue.4
, pp. 669-677
-
-
Skipper, L.1
Wilkes, K.2
Toft, M.3
Baker, M.4
Lincoln, S.5
Hulihan, M.6
Ross, O.A.7
Hutton, M.8
Aasly, J.9
Farrer, M.10
-
4
-
-
26444463460
-
The H1c haplotype at the MAPT locus is associated with Alzheimer's disease
-
10.1093/hmg/ddi241, 16000317
-
Myers AJ, Kaleem M, Marlowe L, Pittman AM, Lees AJ, Fung HC, Duckworth J, Leung D, Gibson A, Morris CM, et al. The H1c haplotype at the MAPT locus is associated with Alzheimer's disease. Hum Mol Genet 2005, 14(16):2399-2404. 10.1093/hmg/ddi241, 16000317.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.16
, pp. 2399-2404
-
-
Myers, A.J.1
Kaleem, M.2
Marlowe, L.3
Pittman, A.M.4
Lees, A.J.5
Fung, H.C.6
Duckworth, J.7
Leung, D.8
Gibson, A.9
Morris, C.M.10
-
5
-
-
26444608642
-
Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region
-
10.1093/hmg/ddi182, 15888485
-
Cruts M, Rademakers R, Gijselinck I, van der Zee J, Dermaut B, de Pooter T, de Rijk P, Del-Favero J, van Broeckhoven C. Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region. Hum Mol Genet 2005, 14(13):1753-1762. 10.1093/hmg/ddi182, 15888485.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.13
, pp. 1753-1762
-
-
Cruts, M.1
Rademakers, R.2
Gijselinck, I.3
van der Zee, J.4
Dermaut, B.5
de Pooter, T.6
de Rijk, P.7
Del-Favero, J.8
van Broeckhoven, C.9
-
6
-
-
13944278863
-
A common inversion under selection in Europeans
-
10.1038/ng1508, 15654335
-
Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, Barnard J, Baker A, Jonasdottir A, Ingason A, Gudnadottir VG, et al. A common inversion under selection in Europeans. Nat Genet 2005, 37(2):129-137. 10.1038/ng1508, 15654335.
-
(2005)
Nat Genet
, vol.37
, Issue.2
, pp. 129-137
-
-
Stefansson, H.1
Helgason, A.2
Thorleifsson, G.3
Steinthorsdottir, V.4
Masson, G.5
Barnard, J.6
Baker, A.7
Jonasdottir, A.8
Ingason, A.9
Gudnadottir, V.G.10
-
7
-
-
33748323156
-
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
-
10.1038/ng1853, 16906164
-
Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 2006, 38(9):999-1001. 10.1038/ng1853, 16906164.
-
(2006)
Nat Genet
, vol.38
, Issue.9
, pp. 999-1001
-
-
Koolen, D.A.1
Vissers, L.E.2
Pfundt, R.3
de Leeuw, N.4
Knight, S.J.5
Regan, R.6
Kooy, R.F.7
Reyniers, E.8
Romano, C.9
Fichera, M.10
-
8
-
-
77955717301
-
Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype
-
10.1159/000315901, 3202913, 20606400
-
Rao PN, Li W, Vissers LE, Veltman JA, Ophoff RA. Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype. Cytogenet Genome Res 2010, 129(4):275-279. 10.1159/000315901, 3202913, 20606400.
-
(2010)
Cytogenet Genome Res
, vol.129
, Issue.4
, pp. 275-279
-
-
Rao, P.N.1
Li, W.2
Vissers, L.E.3
Veltman, J.A.4
Ophoff, R.A.5
-
9
-
-
1442304904
-
Tau haplotypes regulate transcription and are associated with Parkinson's disease
-
10.1002/ana.10826, 14991810
-
Kwok JB, Teber ET, Loy C, Hallupp M, Nicholson G, Mellick GD, Buchanan DD, Silburn PA, Schofield PR. Tau haplotypes regulate transcription and are associated with Parkinson's disease. Ann Neurol 2004, 55(3):329-334. 10.1002/ana.10826, 14991810.
-
(2004)
Ann Neurol
, vol.55
, Issue.3
, pp. 329-334
-
-
Kwok, J.B.1
Teber, E.T.2
Loy, C.3
Hallupp, M.4
Nicholson, G.5
Mellick, G.D.6
Buchanan, D.D.7
Silburn, P.A.8
Schofield, P.R.9
-
10
-
-
33847178181
-
The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts
-
10.1016/j.nbd.2006.10.018, 17174556
-
Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, Marlowe L, Lees A, Leung D, McKeith IG, Perry RH, et al. The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiol Dis 2007, 25(3):561-570. 10.1016/j.nbd.2006.10.018, 17174556.
-
(2007)
Neurobiol Dis
, vol.25
, Issue.3
, pp. 561-570
-
-
Myers, A.J.1
Pittman, A.M.2
Zhao, A.S.3
Rohrer, K.4
Kaleem, M.5
Marlowe, L.6
Lees, A.7
Leung, D.8
McKeith, I.G.9
Perry, R.H.10
-
11
-
-
27744488802
-
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy
-
10.1093/hmg/ddi361, 16195395
-
Rademakers R, Melquist S, Cruts M, Theuns J, Del-Favero J, Poorkaj P, Baker M, Sleegers K, Crook R, De Pooter T, et al. High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet 2005, 14(21):3281-3292. 10.1093/hmg/ddi361, 16195395.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.21
, pp. 3281-3292
-
-
Rademakers, R.1
Melquist, S.2
Cruts, M.3
Theuns, J.4
Del-Favero, J.5
Poorkaj, P.6
Baker, M.7
Sleegers, K.8
Crook, R.9
De Pooter, T.10
-
12
-
-
10944227282
-
Tau phosphorylation: physiological and pathological consequences
-
Stoothoff WH, Johnson GV. Tau phosphorylation: physiological and pathological consequences. Biochim Biophys Acta 2005, 1739(2-3):280-297.
-
(2005)
Biochim Biophys Acta
, vol.1739
, Issue.2-3
, pp. 280-297
-
-
Stoothoff, W.H.1
Johnson, G.V.2
-
13
-
-
77953223693
-
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain
-
10.1371/journal.pgen.1000952, 2869317, 20485568
-
Gibbs JR, van der Brug MP, Hernandez DG, Traynor BJ, Nalls MA, Lai SL, Arepalli S, Dillman A, Rafferty IP, Troncoso J, et al. Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet 2010, 6(5):e1000952. 10.1371/journal.pgen.1000952, 2869317, 20485568.
-
(2010)
PLoS Genet
, vol.6
, Issue.5
-
-
Gibbs, J.R.1
van der Brug, M.P.2
Hernandez, D.G.3
Traynor, B.J.4
Nalls, M.A.5
Lai, S.L.6
Arepalli, S.7
Dillman, A.8
Rafferty, I.P.9
Troncoso, J.10
-
14
-
-
50449104624
-
Evolutionary toggling of the MAPT 17q21.31 inversion region
-
10.1038/ng.193, 2684794, 19165922
-
Zody MC, Jiang Z, Fung HC, Antonacci F, Hillier LW, Cardone MF, Graves TA, Kidd JM, Cheng Z, Abouelleil A, et al. Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet 2008, 40(9):1076-1083. 10.1038/ng.193, 2684794, 19165922.
-
(2008)
Nat Genet
, vol.40
, Issue.9
, pp. 1076-1083
-
-
Zody, M.C.1
Jiang, Z.2
Fung, H.C.3
Antonacci, F.4
Hillier, L.W.5
Cardone, M.F.6
Graves, T.A.7
Kidd, J.M.8
Cheng, Z.9
Abouelleil, A.10
-
15
-
-
39749179636
-
A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts
-
Del Fattore A, Fornari R, Van Wesenbeeck L, de Freitas F, Timmermans JP, Peruzzi B, Cappariello A, Rucci N, Spera G, Helfrich MH, et al. A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts. J Bone Miner Res 2008, 23(3):380-391.
-
(2008)
J Bone Miner Res
, vol.23
, Issue.3
, pp. 380-391
-
-
Del Fattore, A.1
Fornari, R.2
Van Wesenbeeck, L.3
de Freitas, F.4
Timmermans, J.P.5
Peruzzi, B.6
Cappariello, A.7
Rucci, N.8
Spera, G.9
Helfrich, M.H.10
-
16
-
-
77952888304
-
The CRF system, stress, depression and anxiety-insights from human genetic studies
-
10.1038/mp.2009.141, 20010888
-
Binder EB, Nemeroff CB. The CRF system, stress, depression and anxiety-insights from human genetic studies. Mol Psychiatry 2010, 15(6):574-588. 10.1038/mp.2009.141, 20010888.
-
(2010)
Mol Psychiatry
, vol.15
, Issue.6
, pp. 574-588
-
-
Binder, E.B.1
Nemeroff, C.B.2
-
17
-
-
77949850516
-
Polymorphisms in CRHR1 and the serotonin transporter loci: gene x gene x environment interactions on depressive symptoms
-
2924813, 20029939
-
Ressler KJ, Bradley B, Mercer KB, Deveau TC, Smith AK, Gillespie CF, Nemeroff CB, Cubells JF, Binder EB. Polymorphisms in CRHR1 and the serotonin transporter loci: gene x gene x environment interactions on depressive symptoms. Am J Med Genet B Neuropsychiatr Genet 2010, 153B(3):812-824. 2924813, 20029939.
-
(2010)
Am J Med Genet B Neuropsychiatr Genet
, vol.153 B
, Issue.3
, pp. 812-824
-
-
Ressler, K.J.1
Bradley, B.2
Mercer, K.B.3
Deveau, T.C.4
Smith, A.K.5
Gillespie, C.F.6
Nemeroff, C.B.7
Cubells, J.F.8
Binder, E.B.9
-
18
-
-
77957883915
-
Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals
-
10.1093/hmg/ddq328, 2951862, 20699326
-
Briggs FB, Bartlett SE, Goldstein BA, Wang J, McCauley JL, Zuvich RL, De Jager PL, Rioux JD, Ivinson AJ, Compston A, et al. Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals. Hum Mol Genet 2010, 19(21):4286-4295. 10.1093/hmg/ddq328, 2951862, 20699326.
-
(2010)
Hum Mol Genet
, vol.19
, Issue.21
, pp. 4286-4295
-
-
Briggs, F.B.1
Bartlett, S.E.2
Goldstein, B.A.3
Wang, J.4
McCauley, J.L.5
Zuvich, R.L.6
De Jager, P.L.7
Rioux, J.D.8
Ivinson, A.J.9
Compston, A.10
-
19
-
-
78049412267
-
Diversity of human copy number variation and multicopy genes
-
10.1126/science.1197005, 3020103, 21030649
-
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J, Eichler EE. Diversity of human copy number variation and multicopy genes. Science 2010, 330(6004):641-646. 10.1126/science.1197005, 3020103, 21030649.
-
(2010)
Science
, vol.330
, Issue.6004
, pp. 641-646
-
-
Sudmant, P.H.1
Kitzman, J.O.2
Antonacci, F.3
Alkan, C.4
Malig, M.5
Tsalenko, A.6
Sampas, N.7
Bruhn, L.8
Shendure, J.9
Eichler, E.E.10
-
20
-
-
84863661788
-
Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome
-
10.1371/journal.pgen.1002692, 3355074, 22615578
-
Li J, Harris RA, Cheung SW, Coarfa C, Jeong M, Goodell MA, White LD, Patel A, Kang SH, Shaw C, et al. Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome. PLoS genetics 2012, 8(5):e1002692. 10.1371/journal.pgen.1002692, 3355074, 22615578.
-
(2012)
PLoS genetics
, vol.8
, Issue.5
-
-
Li, J.1
Harris, R.A.2
Cheung, S.W.3
Coarfa, C.4
Jeong, M.5
Goodell, M.A.6
White, L.D.7
Patel, A.8
Kang, S.H.9
Shaw, C.10
-
21
-
-
70349570737
-
Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients
-
10.1186/1471-2164-10-405, 2743717, 19712483
-
Saris CG, Horvath S, van Vught PW, van Es MA, Blauw HM, Fuller TF, Langfelder P, DeYoung J, Wokke JH, Veldink JH, van den Berg LH, Ophoff RA. Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients. BMC Genomics 2009, 10:405. 10.1186/1471-2164-10-405, 2743717, 19712483.
-
(2009)
BMC Genomics
, vol.10
, pp. 405
-
-
Saris, C.G.1
Horvath, S.2
van Vught, P.W.3
van Es, M.A.4
Blauw, H.M.5
Fuller, T.F.6
Langfelder, P.7
DeYoung, J.8
Wokke, J.H.9
Veldink, J.H.10
van den Berg, L.H.11
Ophoff, R.A.12
-
22
-
-
77950243833
-
Multiple common variants for celiac disease influencing immune gene expression
-
Epub 2010 Feb 28, 10.1038/ng.543, 2847618, 20190752
-
Dubois PC, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GA, Adãny R, Aromaa A, Bardella MT, van den Berg LH, Bockett NA, de la Concha EG, Dema B, Fehrmann RS, Fernãndez-Arquero M, Fiatal S, Grandone E, Green PM, Groen HJ, Gwilliam R, Houwen RH, Hunt SE, Kaukinen K, Kelleher D, Korponay-Szabo I, Kurppa K, MacMathuna P, Mã{currency sign}ki M, et al. Multiple common variants for celiac disease influencing immune gene expression. Nat Genet 2010, 42(4):295-302. Epub 2010 Feb 28, 10.1038/ng.543, 2847618, 20190752.
-
(2010)
Nat Genet
, vol.42
, Issue.4
, pp. 295-302
-
-
Dubois, P.C.1
Trynka, G.2
Franke, L.3
Hunt, K.A.4
Romanos, J.5
Curtotti, A.6
Zhernakova, A.7
Heap, G.A.8
Adãny, R.9
Aromaa, A.10
Bardella, M.T.11
van den Berg, L.H.12
Bockett, N.A.13
de la Concha, E.G.14
Dema, B.15
Fehrmann, R.S.16
Fernãndez-Arquero, M.17
Fiatal, S.18
Grandone, E.19
Green, P.M.20
Groen, H.J.21
Gwilliam, R.22
Houwen, R.H.23
Hunt, S.E.24
Kaukinen, K.25
Kelleher, D.26
Korponay-Szabo, I.27
Kurppa, K.28
MacMathuna, P.29
Mãki, M.30
more..
-
23
-
-
0037316303
-
A comparison of normalization methods for high density oligonucleotide array data based on variance and bias
-
10.1093/bioinformatics/19.2.185, 12538238
-
Bolstad BM, Irizarry RA, Astrand M, Speed TP. A comparison of normalization methods for high density oligonucleotide array data based on variance and bias. Bioinformatics 2003, 19(2):185-193. 10.1093/bioinformatics/19.2.185, 12538238.
-
(2003)
Bioinformatics
, vol.19
, Issue.2
, pp. 185-193
-
-
Bolstad, B.M.1
Irizarry, R.A.2
Astrand, M.3
Speed, T.P.4
-
24
-
-
46249088370
-
Lumi: a pipeline for processing Illumina microarray
-
10.1093/bioinformatics/btn224, 18467348
-
Du P, Kibbe WA, Lin SM. Lumi: a pipeline for processing Illumina microarray. Bioinformatics 2008, 24(13):1547-1548. 10.1093/bioinformatics/btn224, 18467348.
-
(2008)
Bioinformatics
, vol.24
, Issue.13
, pp. 1547-1548
-
-
Du, P.1
Kibbe, W.A.2
Lin, S.M.3
-
25
-
-
33746512512
-
Principal components analysis corrects for stratification in genome-wide association studies
-
10.1038/ng1847, 16862161
-
Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006, 38(8):904-909. 10.1038/ng1847, 16862161.
-
(2006)
Nat Genet
, vol.38
, Issue.8
, pp. 904-909
-
-
Price, A.L.1
Patterson, N.J.2
Plenge, R.M.3
Weinblatt, M.E.4
Shadick, N.A.5
Reich, D.6
|