-
1
-
-
0028314865
-
Mutation in blood coagulation factor V associated with resistance to activated protein C
-
Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. 1994. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64-67.
-
(1994)
Nature
, vol.369
, pp. 64-67
-
-
Bertina, R.M.1
Koeleman, B.P.2
Koster, T.3
Rosendaal, F.R.4
Dirven, R.J.5
De Ronde, H.6
Van Der Velden, P.A.7
Reitsma, P.H.8
-
2
-
-
0030852959
-
Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry
-
Braun A, Little DP, Köster H. 1997. Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry. Clin Chem 43:1151-1158.
-
(1997)
Clin Chem
, vol.43
, pp. 1151-1158
-
-
Braun, A.1
Little, D.P.2
Köster, H.3
-
3
-
-
0028229858
-
Quantitative analysis of wild-type and HBeAg minus hepatitis B viruses by a sequence-dependent primer extension assay
-
Brunetto MR, Randone A, Ranki M, Jalanko A, Piantino P, Giarin M, Capra G, Calvo PL, Oliveri F, Bonino F. 1994. Quantitative analysis of wild-type and HBeAg minus hepatitis B viruses by a sequence-dependent primer extension assay. J Med Virol 43:310-315.
-
(1994)
J Med Virol
, vol.43
, pp. 310-315
-
-
Brunetto, M.R.1
Randone, A.2
Ranki, M.3
Jalanko, A.4
Piantino, P.5
Giarin, M.6
Capra, G.7
Calvo, P.L.8
Oliveri, F.9
Bonino, F.10
-
4
-
-
10244219858
-
Accessing genetic information with high-density DNA arrays
-
Chee M, Yang R, Hubbell E, Berno A, Huang XC, Stern D, Winkler J, Lockhart DJ, Morris MS, Fodor SPA. 1996. Accessing genetic information with high-density DNA arrays. Science 274:610-614.
-
(1996)
Science
, vol.274
, pp. 610-614
-
-
Chee, M.1
Yang, R.2
Hubbell, E.3
Berno, A.4
Huang, X.C.5
Stern, D.6
Winkler, J.7
Lockhart, D.J.8
Morris, M.S.9
Fodor, S.P.A.10
-
5
-
-
0030754954
-
Template-directed dye-terminator incorporation (TDI) assay: A homogeneous DNA diagnostic method based on fluorescence resonance energy transfer
-
Chen X, Kwok PY. 1997. Template-directed dye-terminator incorporation (TDI) assay: a homogeneous DNA diagnostic method based on fluorescence resonance energy transfer. Nucleic Acids Res 15:347-353.
-
(1997)
Nucleic Acids Res
, vol.15
, pp. 347-353
-
-
Chen, X.1
Kwok, P.Y.2
-
6
-
-
0030885877
-
Fluorescence energy transfer detection as a homogeneous DNA diagnostic method
-
Chen X, Zehnbauer B, Gnirke A, Kwok PY. 1997. Fluorescence energy transfer detection as a homogeneous DNA diagnostic method. Proc Natl Acad Sci USA 94:10756-10761.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 10756-10761
-
-
Chen, X.1
Zehnbauer, B.2
Gnirke, A.3
Kwok, P.Y.4
-
7
-
-
0029838624
-
PCR fidelity of pfu DNA polymerase and other thermostable DNA polymerases
-
Cline J, Braman JC, Hogrefe HH. 1996. PCR fidelity of pfu DNA polymerase and other thermostable DNA polymerases. Nucleic Acids Res 24:3546-3551.
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 3546-3551
-
-
Cline, J.1
Braman, J.C.2
Hogrefe, H.H.3
-
8
-
-
0021943341
-
An estimate of unique DNA sequence heterozygosity in the human genome
-
Cooper DN, Smith BA, Cooke HJ, Niemann S, Schmidtke J. 1985. An estimate of unique DNA sequence heterozygosity in the human genome. Hum Genet 69:201-205.
-
(1985)
Hum Genet
, vol.69
, pp. 201-205
-
-
Cooper, D.N.1
Smith, B.A.2
Cooke, H.J.3
Niemann, S.4
Schmidtke, J.5
-
9
-
-
0025315366
-
High fidelity DNA synthesis by the Thermus aquaticus DNA polymerase
-
Eckert KA, Kunkel TA. 1990. High fidelity DNA synthesis by the Thermus aquaticus DNA polymerase. Nucleic Acids Res 18:3739-3744.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 3739-3744
-
-
Eckert, K.A.1
Kunkel, T.A.2
-
10
-
-
0026108692
-
Light directed spatially addressable parallel chemical synthesis
-
Fodor SPA, Read JL, Pirrung MC, Stryer L, Lu AT, Solas D. 1991. Light directed spatially addressable parallel chemical synthesis. Science 251:767-773.
-
(1991)
Science
, vol.251
, pp. 767-773
-
-
Fodor, S.P.A.1
Read, J.L.2
Pirrung, M.C.3
Stryer, L.4
Lu, A.T.5
Solas, D.6
-
11
-
-
0030738231
-
Rapid quantitation of methylation differences at specific sites using methylation-sensitive single nucleotide primer extension (Ms-SNuPE)
-
Gonzalgo ML, Jones PA. 1997. Rapid quantitation of methylation differences at specific sites using methylation-sensitive single nucleotide primer extension (Ms-SNuPE). Nucleic Acids Res 25:2529-2531.
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 2529-2531
-
-
Gonzalgo, M.L.1
Jones, P.A.2
-
12
-
-
0030697181
-
Low-frequency of p16/CDKN2A methylation in sporadic melanoma: Comparative approaches for methylation analysis of primary tumors
-
Gonzalgo ML, Bender CM, You EH, Glendening JM, Flores JF, Walker GJ, Hayward NK, Jones PA, Fountain JW. 1997. Low-frequency of p16/CDKN2A methylation in sporadic melanoma: comparative approaches for methylation analysis of primary tumors. Cancer Res 57:5336-5347.
-
(1997)
Cancer Res
, vol.57
, pp. 5336-5347
-
-
Gonzalgo, M.L.1
Bender, C.M.2
You, E.H.3
Glendening, J.M.4
Flores, J.F.5
Walker, G.J.6
Hayward, N.K.7
Jones, P.A.8
Fountain, J.W.9
-
13
-
-
0030014967
-
Single nucleotide primer extension: Quantitative range, variability, and multiplex analysis
-
Greenwood AD, Burke DT. 1996. Single nucleotide primer extension: quantitative range, variability, and multiplex analysis. Genome Res 6:336-348.
-
(1996)
Genome Res
, vol.6
, pp. 336-348
-
-
Greenwood, A.D.1
Burke, D.T.2
-
15
-
-
0029829670
-
Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis
-
Hacia JG, Brody LC, Chee MS, Fodor SPA, Collins FS. 1996. Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nature Genet 14:441-447.
-
(1996)
Nature Genet
, vol.14
, pp. 441-447
-
-
Hacia, J.G.1
Brody, L.C.2
Chee, M.S.3
Fodor, S.P.A.4
Collins, F.S.5
-
16
-
-
0030890116
-
Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry
-
Haff LA, Smirnov IP. 1997. Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry. Genome Res 7:378-388.
-
(1997)
Genome Res
, vol.7
, pp. 378-388
-
-
Haff, L.A.1
Smirnov, I.P.2
-
17
-
-
0027367752
-
Colorimetric solid-phase minisequencing assay for the detection of alpha-1-antitrypsin Z mutation
-
Harju L, Weber T, AlexandrovaL, Lukin M, Ranki M, Jalanko A. 1993. Colorimetric solid-phase minisequencing assay for the detection of alpha-1-antitrypsin Z mutation, Clin Chem 2:2282-2287.
-
(1993)
Clin Chem
, vol.2
, pp. 2282-2287
-
-
Harju, L.1
Weber, T.2
Lukin, M.3
Ranki, M.4
Jalanko, A.5
-
18
-
-
0031574230
-
Nested genetic bit analysis (N-GBA) for mutation detection in the p53 tumor suppressor gene
-
Head SR, Rogers YH, Parikh K, Lan G, Anderson S, Goelet P, Boyce-Jacino MT. 1997. Nested genetic bit analysis (N-GBA) for mutation detection in the p53 tumor suppressor gene. Nucleic Acids Res 25:5065-5071.
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 5065-5071
-
-
Head, S.R.1
Rogers, Y.H.2
Parikh, K.3
Lan, G.4
Anderson, S.5
Goelet, P.6
Boyce-Jacino, M.T.7
-
19
-
-
0031027951
-
Measurement of human growth hormone receptor messenger ribonucleic acid by a quantitative polymerase chain reaction-based assay: Demonstration of reduced expression after elective surgery
-
Hermansson M, Wickelgren RB, Hammarqvist F, Bjarnason R, Wennström I, Wernerman J, Carlsson B, Carlsson LM. 1997. Measurement of human growth hormone receptor messenger ribonucleic acid by a quantitative polymerase chain reaction-based assay: demonstration of reduced expression after elective surgery. J Clin Endocrinol Metab 82:421-428.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 421-428
-
-
Hermansson, M.1
Wickelgren, R.B.2
Hammarqvist, F.3
Bjarnason, R.4
Wennström, I.5
Wernerman, J.6
Carlsson, B.7
Carlsson, L.M.8
-
20
-
-
0029757142
-
DNA based carrier screening in primary health care: Screening for AGU mutations in maternity health offices
-
Hietala M, Aula P, Syvänen A-C, Isoniemi A, Peltonen L, Palotie A. 1996. DNA based carrier screening in primary health care: screening for AGU mutations in maternity health offices. Clin Chem 42:1398-1404.
-
(1996)
Clin Chem
, vol.42
, pp. 1398-1404
-
-
Hietala, M.1
Aula, P.2
Syvänen, A.-C.3
Isoniemi, A.4
Peltonen, L.5
Palotie, A.6
-
21
-
-
0028269750
-
Towards automatic detection point mutations: Use of scintillating microplates in solid-phase minisequencing
-
Ihalainen J, Siitari H, Laine S, Syvänen A-C, Palotie, A. 1994. Towards automatic detection point mutations: Use of scintillating microplates in solid-phase minisequencing. Bio-Techniques 16:938-943.
-
(1994)
Bio-techniques
, vol.16
, pp. 938-943
-
-
Ihalainen, J.1
Siitari, H.2
Laine, S.3
Syvänen, A.-C.4
Palotie, A.5
-
22
-
-
0026864479
-
Quantitative determination of rare mRNA species by PCR and solid-phase minisequencing
-
Ikonen E, Manninen T, Peltonen L, Syvänen A-C. 1992. Quantitative determination of rare mRNA species by PCR and solid-phase minisequencing. PCR Methods Applications 1:234-240.
-
(1992)
PCR Methods Applications
, vol.1
, pp. 234-240
-
-
Ikonen, E.1
Manninen, T.2
Peltonen, L.3
Syvänen, A.-C.4
-
23
-
-
0026580904
-
Screening for defined cystic fibrosis mutations by solid-phase minisequencing
-
Jalanko A, Kere J, Savilahti E, Schwartz M, Syvänen AC, Ranki M, Söderlund H. 1992. Screening for defined cystic fibrosis mutations by solid-phase minisequencing.Clin Chem 38:39-43.
-
(1992)
Clin Chem
, vol.38
, pp. 39-43
-
-
Jalanko, A.1
Kere, J.2
Savilahti, E.3
Schwartz, M.4
Syvänen, A.C.5
Ranki, M.6
Söderlund, H.7
-
24
-
-
0030454016
-
Rapid diagnostic test for the major mutation underlying batten disease
-
Järvelä I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen A-C. 1996. Rapid diagnostic test for the major mutation underlying Batten disease. J Med Genet 33:1041-1042.
-
(1996)
J Med Genet
, vol.33
, pp. 1041-1042
-
-
Järvelä, I.1
Mitchison, H.M.2
Munroe, P.B.3
O'Rawe, A.M.4
Mole, S.E.5
Syvänen, A.-C.6
-
25
-
-
0029973249
-
An accurate method for comparing transcript levels of two alleles or highly homologous genes: Application to fibrillin transcripts in Marian patients' fibroblasts
-
Karttunen L, Lönnqvist L, Godfrey M, Peltonen L, Syvänen A-C. 1996. An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marian patients' fibroblasts. Genome Res 6:392-403.
-
(1996)
Genome Res
, vol.6
, pp. 392-403
-
-
Karttunen, L.1
Lönnqvist, L.2
Godfrey, M.3
Peltonen, L.4
Syvänen, A.-C.5
-
26
-
-
0024368667
-
Fidelity of DNA polymerases in DNA amplification
-
Keohavong P, Thilly WG. 1989. Fidelity of DNA polymerases in DNA amplification. Proc Natl Acad Sci USA 86:9253-9257.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 9253-9257
-
-
Keohavong, P.1
Thilly, W.G.2
-
27
-
-
0026920775
-
Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: Application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulin-dependent diabetes
-
Krook A, Stratton IM, O'Rahilly S. 1992. Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulin-dependent diabetes. Hum Mol Genet 1:391-395.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 391-395
-
-
Krook, A.1
Stratton, I.M.2
O'Rahilly, S.3
-
28
-
-
0026099668
-
Single nucleotide primer extension to detect genetic diseases: Experimental application to hemophilia B (factor IX) and cystic fibrosis genes
-
Kuppuswami MN, Hoffmann JW, Kasper CK, Spitzer SG, Groce SL, Bajaj SP. 1991. Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes. Proc Natl Acad Sci USA 88:1143-1147.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 1143-1147
-
-
Kuppuswami, M.N.1
Hoffmann, J.W.2
Kasper, C.K.3
Spitzer, S.G.4
Groce, S.L.5
Bajaj, S.P.6
-
29
-
-
0029091009
-
Solid-phase mini-sequencing confirmed by FISH analysis in determination of gene copy number
-
Laan M, Grön-Virta K, Salo A, Aula P, Peltonen L, Palotie A, Syvänen A-C. 1995. Solid-phase mini-sequencing confirmed by FISH analysis in determination of gene copy number. Hum Genet 96:275-280.
-
(1995)
Hum Genet
, vol.96
, pp. 275-280
-
-
Laan, M.1
Grön-Virta, K.2
Salo, A.3
Aula, P.4
Peltonen, L.5
Palotie, A.6
Syvänen, A.-C.7
-
30
-
-
0028241625
-
Direct detection of nucleic acid hybridization on the surface of a charge coupled device
-
Lamture J, Beattie KL, Burke BE, Eggers MD, Ehrlich DJ, Fowler R, Hollis MA, Kosicki BB, Reich RK, Smith SR, Varma RS, Hogan ME. 1994. Direct detection of nucleic acid hybridization on the surface of a charge coupled device. Nucleic Acids Res 22:2121-2125.
-
(1994)
Nucleic Acids Res
, vol.22
, pp. 2121-2125
-
-
Lamture, J.1
Beattie, K.L.2
Burke, B.E.3
Eggers, M.D.4
Ehrlich, D.J.5
Fowler, R.6
Hollis, Ma.7
Kosicki, B.B.8
Reich, R.K.9
Smith, S.R.10
Varma, R.S.11
Hogan, M.E.12
-
31
-
-
0028339227
-
A microtiter plate assay for determining apolipoprotein E genotype and discovery of a rare allele
-
Livak KJ, Hainer JW. 1994. A microtiter plate assay for determining apolipoprotein E genotype and discovery of a rare allele. Hum Mutat 3:379-385.
-
(1994)
Hum Mutat
, vol.3
, pp. 379-385
-
-
Livak, K.J.1
Hainer, J.W.2
-
32
-
-
0029803734
-
A quantitative and specific method for measuring transcript levels of highly homologous genes
-
Lombardo AJ, Brown GB. 1996. A quantitative and specific method for measuring transcript levels of highly homologous genes. Nucleic Acids Res 24:4812-4816.
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 4812-4816
-
-
Lombardo, A.J.1
Brown, G.B.2
-
33
-
-
0031035007
-
Polymorphisms in drug-metabolizing enzymes: What is their clinical relevance and why do they exist?
-
Nebert DW. 1997. Polymorphisms in drug-metabolizing enzymes: what is their clinical relevance and why do they exist? Ann J Hum Genet 60:265-271.
-
(1997)
Ann J Hum Genet
, vol.60
, pp. 265-271
-
-
Nebert, D.W.1
-
34
-
-
0028097071
-
Genetic bit analysis: A solid phase method for typing single nucleotide polymorphisms
-
Nikiforov TT, Rendle RB, Goelet P, Rogers Y-H, Kotewicz ML, Anderson S, Trainor GL, Knapp MR. 1994. Genetic bit analysis: a solid phase method for typing single nucleotide polymorphisms. Nucleic Acids Res 22:4167-4175.
-
(1994)
Nucleic Acids Res
, vol.22
, pp. 4167-4175
-
-
Nikiforov, T.T.1
Rendle, R.B.2
Goelet, P.3
Rogers, Y.-H.4
Kotewicz, M.L.5
Anderson, S.6
Trainor, G.L.7
Knapp, M.R.8
-
35
-
-
0027478270
-
Solid phase DNA minisequencing by an enzymatic luminometric inorganic pyrophosphatase detection assay
-
Nyrén P, Petterson B, Uhlén M. 1993. Solid phase DNA minisequencing by an enzymatic luminometric inorganic pyrophosphatase detection assay. Anal Biochem 208:171-175.
-
(1993)
Anal Biochem
, vol.208
, pp. 171-175
-
-
Nyrén, P.1
Petterson, B.2
Uhlén, M.3
-
36
-
-
0031918837
-
Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23
-
Pajukanta P, Nuotio I, Terwilliger JD, Porkka KV, Ylitalo K, Pihlajamäki J, Suomalainen AJ, Syvänen A-C, Lehtimäki T, Viikari JS, Laakso M, Taskinen MR, Ehnholm C, Peltonen L. 1998. Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Nature Genet 18:369-373.
-
(1998)
Nature Genet
, vol.18
, pp. 369-373
-
-
Pajukanta, P.1
Nuotio, I.2
Terwilliger, J.D.3
Porkka, K.V.4
Ylitalo, K.5
Pihlajamäki, J.6
Suomalainen, A.J.7
Syvänen, A.-C.8
Lehtimäki, T.9
Viikari, J.S.10
Laakso, M.11
Taskinen, M.R.12
Ehnholm, C.13
Peltonen, L.14
-
37
-
-
0029761797
-
Multiplex, fluorescent solid-phase minisequencing for efficient screening of DNA sequence variation
-
Pastinen T, Partanen J, Syvänen A-C. 1996. Multiplex, fluorescent solid-phase minisequencing for efficient screening of DNA sequence variation. Clin Chem 42:1391-1397.
-
(1996)
Clin Chem
, vol.42
, pp. 1391-1397
-
-
Pastinen, T.1
Partanen, J.2
Syvänen, A.-C.3
-
38
-
-
0030810721
-
Minisequencing: A specific tool for DNA analysis and diagnostics on oligonucleotide arrays
-
PastinenT, Kurg A, Metspalu A, Peltonen L, Syvänen A-C. 1997. Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res 7:606-614.
-
(1997)
Genome Res
, vol.7
, pp. 606-614
-
-
Kurg, A.1
Metspalu, A.2
Peltonen, L.3
Syvänen, A.-C.4
-
39
-
-
0032550681
-
Contribution of the CCR5 and MBL genes to susceptibility to HIv-1 infection in the Finnish population
-
Pastinen T, Liitsola K, Niini P, Salminen M, Syvänen A-C. 1998a. Contribution of the CCR5 and MBL genes to susceptibility to HIV-1 infection in the Finnish population. AIDS Res Hum Retroviruses 14:695-698.
-
(1998)
AIDS Res Hum Retroviruses
, vol.14
, pp. 695-698
-
-
Pastinen, T.1
Liitsola, K.2
Niini, P.3
Salminen, M.4
Syvänen, A.-C.5
-
40
-
-
0031679495
-
Array-based multiplex analysis of candidate genes reveals two independent and additive risk factors for myocardial infarction in the Finnish population
-
Pastinen T, Perola M, Niini P, Terwilliger J, Salomaa V, Vartiainen E, Peltonen L, Syvänen A-C. 1998b. Array-based multiplex analysis of candidate genes reveals two independent and additive risk factors for myocardial infarction in the Finnish population. Hum Mol Genet 7:1453-1462.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1453-1462
-
-
Pastinen, T.1
Perola, M.2
Niini, P.3
Terwilliger, J.4
Salomaa, V.5
Vartiainen, E.6
Peltonen, L.7
Syvänen, A.-C.8
-
41
-
-
0029781585
-
Preimplantation diagnosis by whole genome amplification, PCR amplification and solid-phase minisequencing
-
Paunio T, Reima I, Syvänen A-C. 1996. Preimplantation diagnosis by whole genome amplification, PCR amplification and solid-phase minisequencing. Clin Chem 42:1382-1390.
-
(1996)
Clin Chem
, vol.42
, pp. 1382-1390
-
-
Paunio, T.1
Reima, I.2
Syvänen, A.-C.3
-
42
-
-
0030961747
-
Tissue distribution and levels of gelsolin mRNA in normal individuals and patients with gelsolin-related amyloidosis
-
Paunio T, Kangas H, Kiuru S, Palo J, Peltonen L, Syvänen A-C. 1997. Tissue distribution and levels of gelsolin mRNA in normal individuals and patients with gelsolin-related amyloidosis. FEBS Lett 406:49-55.
-
(1997)
FEBS Lett
, vol.406
, pp. 49-55
-
-
Paunio, T.1
Kangas, H.2
Kiuru, S.3
Palo, J.4
Peltonen, L.5
Syvänen, A.-C.6
-
43
-
-
0028246289
-
Light-generated oligonucleotide arrays for rapid DNA sequence analysis
-
Pease AC, Solas D, Sullivan EJ, Cronin MT, Holmes CP, Fodor SPA. 1994. Light-generated oligonucleotide arrays for rapid DNA sequence analysis. Proc Natl Acad Sci USA 91:5022-5026.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 5022-5026
-
-
Pease, A.C.1
Solas, D.2
Sullivan, E.J.3
Cronin, M.T.4
Holmes, C.P.5
Fodor, S.P.A.6
-
44
-
-
0031468431
-
Use of first nucleotide change technology to determine the frequency of factor V leiden in a population of Australian blood donors
-
Pecheniuk NM, Marsh NA, Walsh TP, Dale JL. 1997. Use of first nucleotide change technology to determine the frequency of factor V Leiden in a population of Australian blood donors. Blood Coagul Fibrinolysis 8:491-495.
-
(1997)
Blood Coagul Fibrinolysis
, vol.8
, pp. 491-495
-
-
Pecheniuk, N.M.1
Marsh, N.A.2
Walsh, T.P.3
Dale, J.L.4
-
45
-
-
0026593708
-
Differential termination of primer extension: A novel, quantifiable method for detection of point mutations
-
Picketts DJ, Cameron C, Taylor, SAM, Deugau KV, Lillicarp DP. 1992. Differential termination of primer extension: a novel, quantifiable method for detection of point mutations. Hum Genet 89:155-157.
-
(1992)
Hum Genet
, vol.89
, pp. 155-157
-
-
Picketts, D.J.1
Cameron, C.2
Taylor, S.A.M.3
Deugau, K.V.4
Lillicarp, D.P.5
-
46
-
-
0030722621
-
Capillary electrophoresis for the detection of known point mutations by single-nucleotide primer extension and laser induced fluorescence detection
-
Piggee CA, Muth J, Carrilho E, Karger BL. 1997. Capillary electrophoresis for the detection of known point mutations by single-nucleotide primer extension and laser induced fluorescence detection . J. Chromatogr A781:367-375.
-
(1997)
J. Chromatogr
, vol.A781
, pp. 367-375
-
-
Piggee, C.A.1
Muth, J.2
Carrilho, E.3
Karger, B.L.4
-
47
-
-
0030298490
-
Real-time DNA sequencing using detection of pyrophosphate release
-
Ronaghi M, Karamohamed S, Pettersson B, Uhlen M, Nyren R. 1996. Real-time DNA sequencing using detection of pyrophosphate release. Anal Biochem 1:84-89.
-
(1996)
Anal Biochem
, vol.1
, pp. 84-89
-
-
Ronaghi, M.1
Karamohamed, S.2
Pettersson, B.3
Uhlen, M.4
Nyren, R.5
-
48
-
-
0030708567
-
Sequencing the human genome
-
Rowen L, Mahairas G, Hood L. 1997. Sequencing the human genome. Science 278:605-607.
-
(1997)
Science
, vol.278
, pp. 605-607
-
-
Rowen, L.1
Mahairas, G.2
Hood, L.3
-
49
-
-
0031984056
-
DNA variation and the future of human genetics
-
Schafer AJ, Hawkins JR. 1998. DNA variation and the future of human genetics. Nature Biotechnol 16:33-39.
-
(1998)
Nature Biotechnol
, vol.16
, pp. 33-39
-
-
Schafer, A.J.1
Hawkins, J.R.2
-
50
-
-
0029748326
-
Parallel human genome analysis: Microarray-based expression monitoring of 1000 genes
-
Schena M, Shalon D, Heller R, Chai A, Brown PO, Davis RW. 1996. Parallel human genome analysis: microarray-based expression monitoring of 1000 genes. Proc Natl Acad Sci USA 93:10614-10619.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 10614-10619
-
-
Schena, M.1
Shalon, D.2
Heller, R.3
Chai, A.4
Brown, P.O.5
Davis, R.W.6
-
51
-
-
0031030666
-
Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy
-
Schwartz M, Sörensen N, Hansen FJ, Hertz JM, Nörby S, Tranebjaerg L, Skovby F. 1997. Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy. Hum Mol Genet 6:99-104.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 99-104
-
-
Schwartz, M.1
Sörensen, N.2
Hansen, F.J.3
Hertz, J.M.4
Nörby, S.5
Tranebjaerg, L.6
Skovby, F.7
-
52
-
-
0031665455
-
Use of a reverse transcriptase-polymerase chain reaction assay to analyze allele-specific expression in individual hippocampal neurons
-
Shen SI, Gao C, Singer-Sam J. 1998. Use of a reverse transcriptase-polymerase chain reaction assay to analyze allele-specific expression in individual hippocampal neurons. Mol Genet Metab 63:96-102.
-
(1998)
Mol Genet Metab
, vol.63
, pp. 96-102
-
-
Shen, S.I.1
Gao, C.2
Singer-Sam, J.3
-
53
-
-
0029877956
-
Mutation detection by solid-phase primer extension
-
Shumaker JM, Metspalu A, Caskey CT. 1996. Mutation detection by solid-phase primer extension. Hum Mutat 7:346-354.
-
(1996)
Hum Mutat
, vol.7
, pp. 346-354
-
-
Shumaker, J.M.1
Metspalu, A.2
Caskey, C.T.3
-
54
-
-
0026817024
-
A sensitive quantitative assay for measurement of allele-specific transcripts differing by a single nucleotide
-
Singer-Sam J, LeBon JM, Dai A, Riggs AD. 1992. A sensitive quantitative assay for measurement of allele-specific transcripts differing by a single nucleotide. PCR Methods Applications 1:160-163.
-
(1992)
PCR Methods Applications
, vol.1
, pp. 160-163
-
-
Singer-Sam, J.1
Lebon, J.M.2
Dai, A.3
Riggs, A.D.4
-
55
-
-
0030932658
-
A colorimetric mini-sequencing assay for the mutation in codon 506 of the coagulation factor V gene
-
Sitbon G, Hurtig M, Palotie A, Lönngren J, Syvänen A-C. 1997. A colorimetric mini-sequencing assay for the mutation in codon 506 of the coagulation factor V gene. Thromb Haemost 77:701-703.
-
(1997)
Thromb Haemost
, vol.77
, pp. 701-703
-
-
Sitbon, G.1
Hurtig, M.2
Palotie, A.3
Lönngren, J.4
Syvänen, A.-C.5
-
56
-
-
0025297777
-
Primer extension technique for the detection of single nucleotides in genomic DNA
-
Sokolov BP. 1990. Primer extension technique for the detection of single nucleotides in genomic DNA. Nucleic Acids Res 18:3671.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 3671
-
-
Sokolov, B.P.1
-
57
-
-
0026742791
-
Analyzing and comparing nucleic acid sequences by hybridization to arrays of oligonucleotides: Evaluation using experimental models
-
Southern EM, Maskos U, Elder JK. 1992. Analyzing and comparing nucleic acid sequences by hybridization to arrays of oligonucleotides: evaluation using experimental models. Genomics 13:1008-1017.
-
(1992)
Genomics
, vol.13
, pp. 1008-1017
-
-
Southern, E.M.1
Maskos, U.2
Elder, J.K.3
-
59
-
-
0027336403
-
Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription
-
Suomalainen A, Majander A, Pihko H, Peltonen L, Syvänen A-C. 1993. Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription. Hum Mol Genet 2:525-534.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 525-534
-
-
Suomalainen, A.1
Majander, A.2
Pihko, H.3
Peltonen, L.4
Syvänen, A.-C.5
-
60
-
-
0028310298
-
Detection of point mutations in human genes by the solid-phase minisequencing method
-
Syvänen A-C. 1994. Detection of point mutations in human genes by the solid-phase minisequencing method. Clin Chim Acta 226:225-236.
-
(1994)
Clin Chim Acta
, vol.226
, pp. 225-236
-
-
Syvänen, A.-C.1
-
61
-
-
0025650533
-
A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E
-
Syvänen A-C, Aalto-Setälä K, Harju L, Kontula K, Söderlund H. 1990. A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics 8:684-692.
-
(1990)
Genomics
, vol.8
, pp. 684-692
-
-
Syvänen, A.-C.1
Aalto-Setälä, K.2
Harju, L.3
Kontula, K.4
Söderlund, H.5
-
62
-
-
0026578477
-
Convenient and quantitative detection of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland
-
Syvänen A-C, Ikonen E, Manninen T, Bengtström M, Söderlund H, Aula P, Peltonen L .1992a. Convenient and quantitative detection of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics 12:590-595.
-
(1992)
Genomics
, vol.12
, pp. 590-595
-
-
Syvänen, A.-C.1
Ikonen, E.2
Manninen, T.3
Bengtström, M.4
Söderlund, H.5
Aula, P.6
Peltonen, L.7
-
63
-
-
0026591706
-
N-ras gene mutations in acute myeloid leukemia: Accurate detection by solid-phase minisequencing
-
Syvänen A-C, Söderlund H, Laaksonen E, Bengtström, M, Turunen M, Palotie A. 1992b. N-ras gene mutations in acute myeloid leukemia: accurate detection by solid-phase minisequencing. Int J Cancer 50:713-718.
-
(1992)
Int J Cancer
, vol.50
, pp. 713-718
-
-
Syvänen, A.-C.1
Söderlund, H.2
Laaksonen, E.3
Bengtström, M.4
Turunen, M.5
Palotie, A.6
-
64
-
-
0027400665
-
Identification of individuals by analysis of biallelic DNA markers using pcr and solid-phase minisequencing
-
Syvänen A-C, Sajantila A, Lukka M. 1993. Identification of individuals by analysis of biallelic DNA markers using PCR and solid-phase minisequencing. Am J Hum Genet 52:46-59.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 46-59
-
-
Syvänen, A.-C.1
Sajantila, A.2
Lukka, M.3
-
65
-
-
0029023051
-
A single residue in DNA polymerases of the Escherichia coli DNA polymerase I family is critical for distinguishing between deoxy-and dideoxyribonucleotides
-
Tabor S, Richardson CC. 1995. A single residue in DNA polymerases of the Escherichia coli DNA polymerase I family is critical for distinguishing between deoxy-and dideoxyribonucleotides. Proc Natl Acad Sci USA 92:6339-6343.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 6339-6343
-
-
Tabor, S.1
Richardson, C.C.2
-
66
-
-
0030059841
-
Rapid detection of mitochondrial sequence polymorphisms using multiplex solid-phase fluorescent minisequencing
-
Tully G, Sullivan KM, Nixon P, Stones RE, Gill P. 1996. Rapid detection of mitochondrial sequence polymorphisms using multiplex solid-phase fluorescent minisequencing. Genomics 34:107-113.
-
(1996)
Genomics
, vol.34
, pp. 107-113
-
-
Tully, G.1
Sullivan, K.M.2
Nixon, P.3
Stones, R.E.4
Gill, P.5
-
67
-
-
0031017213
-
Multivariant confirmation of sickle cell disease using a nonradioactive minisequencing reaction
-
Tuuminen T, Ingman H, Therrell BL Jr, Kallio A. 1997. Multivariant confirmation of sickle cell disease using a nonradioactive minisequencing reaction. Hemoglobin 21:71-89.
-
(1997)
Hemoglobin
, vol.21
, pp. 71-89
-
-
Tuuminen, T.1
Ingman, H.2
Therrell B.L., Jr.3
Kallio, A.4
-
68
-
-
44049116548
-
Detection of specific alleles by using allele-specific primer extension followed by capture on solid support
-
Ugozzoli L, Wahlqvist JM, Ehsani A, Kaplan BE, Wallace RB. 1992. Detection of specific alleles by using allele-specific primer extension followed by capture on solid support. Genet Anal Tech Appl 9:107-112.
-
(1992)
Genet Anal Tech Appl
, vol.9
, pp. 107-112
-
-
Ugozzoli, L.1
Wahlqvist, J.M.2
Ehsani, A.3
Kaplan, B.E.4
Wallace, R.B.5
-
69
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L. 1995. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376:584-587.
-
(1995)
Nature
, vol.376
, pp. 584-587
-
-
Vesa, J.1
Hellsten, E.2
Verkruyse, L.A.3
Camp, L.A.4
Rapola, J.5
Santavuori, P.6
Hofmann, S.L.7
Peltonen, L.8
-
70
-
-
0032518160
-
Differential replication timing of X-linked genes measured by a novel method using single-nucleotide primer extension
-
Xiong Z, Tsark W, Singer-Sam J, Riggs AD. 1998. Differential replication timing of X-linked genes measured by a novel method using single-nucleotide primer extension. Nucleic Acids Res 26:684-686.
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 684-686
-
-
Xiong, Z.1
Tsark, W.2
Singer-Sam, J.3
Riggs, A.D.4
-
71
-
-
0024828121
-
Quantitation of mRNA by the polymerase chain reaction
-
Wang Am, Doyle MV, Mark D. 1989. Quantitation of mRNA by the polymerase chain reaction. Proc Natl Acad Sci USA 86:9717-9721.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 9717-9721
-
-
Wang, A.1
Doyle, M.V.2
Mark, D.3
-
72
-
-
0032524383
-
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
-
Wang DG, Fan JB, Siao CJ, Berno A, Young P, Sapolsky R, Ghandour G, Perkins N, Winchester E, Spencer J, Kruglyak L, Stein L, Hsie L, Topaloglou T, Hubbell E, Robinson E, Mittmann M, Morris MS, Shen N, Kilburn D, Rioux J, Nusbaum C, Rozen S, Hudson TJ, Lipshutz R, Chee M, Lander ES. 1998. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 280:1077-1082.
-
(1998)
Science
, vol.280
, pp. 1077-1082
-
-
Wang, D.G.1
Fan, J.B.2
Siao, C.J.3
Berno, A.4
Young, P.5
Sapolsky, R.6
Ghandour, G.7
Perkins, N.8
Winchester, E.9
Spencer, J.10
Kruglyak, L.11
Stein, L.12
Hsie, L.13
Topaloglou, T.14
Hubbell, E.15
Robinson, E.16
Mittmann, M.17
Morris, M.S.18
Shen, N.19
Kilburn, D.20
Rioux, J.21
Nusbaum, C.22
Rozen, S.23
Hudson, T.J.24
Lipshutz, R.25
Chee, M.26
Lander, E.S.27
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