메뉴 건너뛰기




Volumn 51, Issue 7, 2005, Pages 1282-1284

Two-step genetic screening of thrombophilia by pyrosequencing

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5 LEIDEN; PLASMINOGEN ACTIVATOR INHIBITOR 1; PROTHROMBIN; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 5; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2);

EID: 23444437978     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.048124     Document Type: Article
Times cited : (12)

References (19)
  • 1
    • 4344702308 scopus 로고    scopus 로고
    • Identification of three genetic risk factors for venous thrombosis using a multiplex allele-specific PCR assay: Comparison of conventional and new alternative methods for the preparation of DNA from clinical samples
    • Angelini A, Di Febbo C, Baccante G, Di Nisio M, Di Ilio C, Cuccurullo F, et al. Identification of three genetic risk factors for venous thrombosis using a multiplex allele-specific PCR assay: comparison of conventional and new alternative methods for the preparation of DNA from clinical samples. J Thromb Thrombolysis 2003;16:189-93.
    • (2003) J Thromb Thrombolysis , vol.16 , pp. 189-193
    • Angelini, A.1    Di Febbo, C.2    Baccante, G.3    Di Nisio, M.4    Di Ilio, C.5    Cuccurullo, F.6
  • 2
    • 0029954294 scopus 로고    scopus 로고
    • Simple and rapid detection of factor V Leiden by allele-specific PCR amplification
    • Blasczyk R, Ritter M, Thiede C, Wehling J, Hintz G, Neubauer A, et al. Simple and rapid detection of factor V Leiden by allele-specific PCR amplification. Thromb Haemost 1996;75:757-9.
    • (1996) Thromb Haemost , vol.75 , pp. 757-759
    • Blasczyk, R.1    Ritter, M.2    Thiede, C.3    Wehling, J.4    Hintz, G.5    Neubauer, A.6
  • 3
    • 7044235686 scopus 로고    scopus 로고
    • Analytical validation of the Tag-It high-throughput microsphere-based universal array genotyping platform: Application to the multiplex detection of a panel of thrombophilia-associated single-nucleotide polymorphisms
    • Bortolin S, Black M, Modi H, Boszko I, Kobler D, Fieldhouse D, et al. Analytical validation of the Tag-It high-throughput microsphere-based universal array genotyping platform: application to the multiplex detection of a panel of thrombophilia-associated single-nucleotide polymorphisms. Clin Chem 2004;50:2028-36.
    • (2004) Clin Chem , vol.50 , pp. 2028-2036
    • Bortolin, S.1    Black, M.2    Modi, H.3    Boszko, I.4    Kobler, D.5    Fieldhouse, D.6
  • 4
    • 85047688725 scopus 로고    scopus 로고
    • Diagnostic single nucleotide polymorphism analysis of factor V Leiden and prothrombin 20210G>A. A comparison of the Nanogen Eelectronic Microarray with restriction enzyme digestion and the Roche LightCycler
    • Schrijver I, Lay M, Zehnder J. Diagnostic single nucleotide polymorphism analysis of factor V Leiden and prothrombin 20210G>A. A comparison of the Nanogen Eelectronic Microarray with restriction enzyme digestion and the Roche LightCycler. Am J Clin Pathol 2003;119:490-6.
    • (2003) Am J Clin Pathol , vol.119 , pp. 490-496
    • Schrijver, I.1    Lay, M.2    Zehnder, J.3
  • 5
    • 0029993889 scopus 로고    scopus 로고
    • Evaluation of a tissue factor dependent factor V assay to detect factor V Leiden: Demonstration of high sensitivity and specificity for a generally applicable assay for activated protein C resistance
    • Liebman H, Sutherland D, Bacon R, McGehee W. Evaluation of a tissue factor dependent factor V assay to detect factor V Leiden: demonstration of high sensitivity and specificity for a generally applicable assay for activated protein C resistance. Br J Haematol 1996;95:550-3.
    • (1996) Br J Haematol , vol.95 , pp. 550-553
    • Liebman, H.1    Sutherland, D.2    Bacon, R.3    McGehee, W.4
  • 6
    • 2342514163 scopus 로고    scopus 로고
    • Detection of genomic polymorphisms associated with venous thrombosis using the Invader biplex assay
    • Patnaik M, Dlott JS, Fontaine RN, Subbiah MT, Hessner MJ, Joyner KA, et al. Detection of genomic polymorphisms associated with venous thrombosis using the Invader biplex assay. Mol Diagn 2004;6:137-44.
    • (2004) Mol Diagn , vol.6 , pp. 137-144
    • Patnaik, M.1    Dlott, J.S.2    Fontaine, R.N.3    Subbiah, M.T.4    Hessner, M.J.5    Joyner, K.A.6
  • 8
    • 0030036010 scopus 로고    scopus 로고
    • Mutation in the gene coding for coagulation factor V and resistance to activated protein C: Detection of the genetic mutation by oligonucleotide ligation assay using a semi-automated system
    • Zotz R, Maruhn-Debowski B, Scharf R. Mutation in the gene coding for coagulation factor V and resistance to activated protein C: detection of the genetic mutation by oligonucleotide ligation assay using a semi-automated system. Thromb Haemost 1996;76:53-5.
    • (1996) Thromb Haemost , vol.76 , pp. 53-55
    • Zotz, R.1    Maruhn-Debowski, B.2    Scharf, R.3
  • 10
    • 0031451539 scopus 로고    scopus 로고
    • Real-time fluorescence genotyping of factor V Leiden during rapid-cycle PCR
    • Lay MJ, Wittwer CT. Real-time fluorescence genotyping of factor V Leiden during rapid-cycle PCR. Clin Chem 1997;43:2262-7.
    • (1997) Clin Chem , vol.43 , pp. 2262-2267
    • Lay, M.J.1    Wittwer, C.T.2
  • 11
    • 0141727616 scopus 로고    scopus 로고
    • CARD15 Genotyping in inflammatory bowel disease patients by multiplex pyrosequencing
    • Palmieri O, Toth S, Ferraris A, Andriulli A, Latiano A, Annese V, et al. CARD15 Genotyping in inflammatory bowel disease patients by multiplex pyrosequencing. Clin Chem 2003;49:1675-9.
    • (2003) Clin Chem , vol.49 , pp. 1675-1679
    • Palmieri, O.1    Toth, S.2    Ferraris, A.3    Andriulli, A.4    Latiano, A.5    Annese, V.6
  • 12
    • 1942435574 scopus 로고    scopus 로고
    • Identification of two novel sequence variants affecting thiopurine methyltransferase enzyme activity
    • Lindqvist M, Haglund S, Almer S, Peterson C, Taipalensu J, Hertervig E, et al. Identification of two novel sequence variants affecting thiopurine methyltransferase enzyme activity. Pharmacogenetics 2004;14:261-5.
    • (2004) Pharmacogenetics , vol.14 , pp. 261-265
    • Lindqvist, M.1    Haglund, S.2    Almer, S.3    Peterson, C.4    Taipalensu, J.5    Hertervig, E.6
  • 13
    • 0036011282 scopus 로고    scopus 로고
    • Pyrosequencing: An accurate detection platform for single nucleotide polymorphisms
    • Fakhrai-Rad H, Pourmand N, Ronaghi M. Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms. Hum Mutat 2002; 19:479-85.
    • (2002) Hum Mutat , vol.19 , pp. 479-485
    • Fakhrai-Rad, H.1    Pourmand, N.2    Ronaghi, M.3
  • 14
    • 1542394943 scopus 로고    scopus 로고
    • Use of pyrosequencing to detect clinically relevant polymorphisms of genes in basal cell carcinoma
    • Zhang Z, Liu W, Jia X, Gao Y, Hemminki K, Lindholm B. Use of pyrosequencing to detect clinically relevant polymorphisms of genes in basal cell carcinoma. Clin Chim Acta 2004;342:137-43.
    • (2004) Clin Chim Acta , vol.342 , pp. 137-143
    • Zhang, Z.1    Liu, W.2    Jia, X.3    Gao, Y.4    Hemminki, K.5    Lindholm, B.6
  • 16
    • 0033765190 scopus 로고    scopus 로고
    • PAI-1 promoter 4G/5G genotype as an additional risk factor for venous thrombosis in subjects with genetic thrombophilic defects
    • Segui R, Estelles A, Mira Y, Espana F, Villa P, Falco C, et al. PAI-1 promoter 4G/5G genotype as an additional risk factor for venous thrombosis in subjects with genetic thrombophilic defects. Br J Haematol 2000;111:122-8.
    • (2000) Br J Haematol , vol.111 , pp. 122-128
    • Segui, R.1    Estelles, A.2    Mira, Y.3    Espana, F.4    Villa, P.5    Falco, C.6
  • 17
    • 0031687887 scopus 로고    scopus 로고
    • A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
    • Weisberg I, Tran P, Christensen B, Sibani S, Rozen R. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 1998;64:169-72.
    • (1998) Mol Genet Metab , vol.64 , pp. 169-172
    • Weisberg, I.1    Tran, P.2    Christensen, B.3    Sibani, S.4    Rozen, R.5
  • 18
    • 0037375566 scopus 로고    scopus 로고
    • Polymorphisms in coagulation factor genes and their impact on arterial and venous thrombosis
    • Endler G, Mannhalter C. Polymorphisms in coagulation factor genes and their impact on arterial and venous thrombosis. Clin Chim Acta 2003;330:31-55.
    • (2003) Clin Chim Acta , vol.330 , pp. 31-55
    • Endler, G.1    Mannhalter, C.2
  • 19
    • 0032540905 scopus 로고    scopus 로고
    • A sequencing method based on real-time pyrophosphate
    • Ronaghi M, Uhlen M, Nyren P. A sequencing method based on real-time pyrophosphate. Science 1998;281:363-5.
    • (1998) Science , vol.281 , pp. 363-365
    • Ronaghi, M.1    Uhlen, M.2    Nyren, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.