-
1
-
-
0035463810
-
Quality control in molecular genetic testing
-
Dequeker E, Ramsden S, Grody WW, Stenzel TT, Barton DE. Quality control in molecular genetic testing. Nat Rev Genet 2001;2:717-23.
-
(2001)
Nat. Rev. Genet.
, vol.2
, pp. 717-723
-
-
Dequeker, E.1
Ramsden, S.2
Grody, W.W.3
Stenzel, T.T.4
Barton, D.E.5
-
2
-
-
0031978371
-
Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: Report of a large European external quality assessment
-
Dequeker E, Cassiman JJ. Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment. Eur J Hum Genet 1998;6:165-75.
-
(1998)
Eur. J. Hum. Genet.
, vol.6
, pp. 165-175
-
-
Dequeker, E.1
Cassiman, J.J.2
-
3
-
-
0033932714
-
Genetic testing and quality control in diagnostic laboratories
-
Dequeker E, Cassiman JJ. Genetic testing and quality control in diagnostic laboratories. Nat Genet 2000; 25:259-60.
-
(2000)
Nat. Genet.
, vol.25
, pp. 259-260
-
-
Dequeker, E.1
Cassiman, J.J.2
-
4
-
-
0033029439
-
A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease
-
Losekoot M, Bakker B, Laccone F, Stenhouse S, Elles R. A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease. Eur J Hum Genet 1999;7:217-22.
-
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 217-222
-
-
Losekoot, M.1
Bakker, B.2
Laccone, F.3
Stenhouse, S.4
Elles, R.5
-
5
-
-
0036797639
-
Relatively poor performance of clinical laboratories for DNA analyses in the detection of two thrombophilic mutations - A cause for concern
-
Tripodi A, Peyvandi F, Chantarangkul V, Menegatti M, Mannucci PM. Relatively poor performance of clinical laboratories for DNA analyses in the detection of two thrombophilic mutations - a cause for concern. Thromb Haemost 2002;88:690-1.
-
(2002)
Thromb. Haemost.
, vol.88
, pp. 690-691
-
-
Tripodi, A.1
Peyvandi, F.2
Chantarangkul, V.3
Menegatti, M.4
Mannucci, P.M.5
-
6
-
-
0034014362
-
Experiences with external quality assessment (EQA) in molecular diagnostics in clinical laboratories in Germany
-
Working Group of the German Societies for Clinical Chemistry (DGKC) and Laboratory Medicine
-
Neumaier M, Braun A, Gessner R, Funke H. Experiences with external quality assessment (EQA) in molecular diagnostics in clinical laboratories in Germany. Working Group of the German Societies for Clinical Chemistry (DGKC) and Laboratory Medicine. Clin Chem Lab Med 2000;38:161-3.
-
(2000)
Clin. Chem. Lab. Med.
, vol.38
, pp. 161-163
-
-
Neumaier, M.1
Braun, A.2
Gessner, R.3
Funke, H.4
-
7
-
-
0033636288
-
Implementation of Reference Systems in Laboratory Medicine
-
Müller MM. Implementation of Reference Systems in Laboratory Medicine. Clin Chem 2000;46:1907-9.
-
(2000)
Clin. Chem.
, vol.46
, pp. 1907-1909
-
-
Müller, M.M.1
-
8
-
-
0002658351
-
-
Directive 98/79/EC of the European Parliament and of the Council on in vitro Diagnostic Medical Devices of 27 October 1998
-
EU Lex. Directive 98/79/EC of the European Parliament and of the Council on in vitro Diagnostic Medical Devices of 27 October 1998. Off J Eur Comm 1998;L331:1-37.
-
(1998)
Off. J. Eur. Comm.
, vol.L331
, pp. 1-37
-
-
Lex, E.U.1
-
9
-
-
0029850530
-
A common genetic variation in the 39-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis
-
Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 39-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698-703.
-
(1996)
Blood
, vol.88
, pp. 3698-3703
-
-
Poort, S.R.1
Rosendaal, F.R.2
Reitsma, P.H.3
Bertina, R.M.4
-
10
-
-
0037375566
-
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
-
11
-
-
0036881490
-
Clinical and Laboratory Management of the Prothrombin G20210A Mutation
-
McGlennen RC, Key NS. Clinical and Laboratory Management of the Prothrombin G20210A Mutation. Arch Pathol Lab Med 2002;126:1319-25.
-
(2002)
Arch. Pathol. Lab. Med.
, vol.126
, pp. 1319-1325
-
-
McGlennen, R.C.1
Key, N.S.2
-
12
-
-
0032145967
-
Criteria for the certification of internationally acceptable reference materials
-
Pauwels J, Schimmel H, Lamberty A. Criteria for the certification of internationally acceptable reference materials. Clin Biochem 1998;31:437-9.
-
(1998)
Clin. Biochem.
, vol.31
, pp. 437-439
-
-
Pauwels, J.1
Schimmel, H.2
Lamberty, A.3
-
13
-
-
0031934504
-
Reliable genotyping of the G-20210-A mutation of coagulation factor II (prothrombin)
-
Danneberg J, Abbes AP, Bruggeman BJ, Engel H, Gerrits J, Martens A. Reliable genotyping of the G-20210-A mutation of coagulation factor II (prothrombin). Clin Chem 1998;44:349-51.
-
(1998)
Clin. Chem.
, vol.44
, pp. 349-351
-
-
Danneberg, J.1
Abbes, A.P.2
Bruggeman, B.J.3
Engel, H.4
Gerrits, J.5
Martens, A.6
-
14
-
-
0032791267
-
High-speed prothrombin G→dsoA 20210 and methylenetetrahydrofolate reductase C→soT 677 mutation detection using real-time fluorescence PCR and melting curves
-
Aslanidis C, Nauck M, Schmitz G. High-speed prothrombin G→dsoA 20210 and methylenetetrahydrofolate reductase C→soT 677 mutation detection using real-time fluorescence PCR and melting curves. Biotechniques 1999;27:234-8.
-
(1999)
Biotechniques
, vol.27
, pp. 234-238
-
-
Aslanidis, C.1
Nauck, M.2
Schmitz, G.3
-
15
-
-
0035133966
-
Multiplexed mutagenically separated PCR: Simultaneous single-tube detection of the factor V R506O (G1691A), the prothrombin G20210A, and the methylenetetrahydrofolate reductase A223V (C677T) variants
-
Endler G, Kyrle PA, Eichinger S, Exner M, Mannhalter C. Multiplexed mutagenically separated PCR: simultaneous single-tube detection of the factor V R506O (G1691A), the prothrombin G20210A, and the methylenetetrahydrofolate reductase A223V (C677T) variants. Clin Chem 2001;47:333-5.
-
(2001)
Clin. Chem.
, vol.47
, pp. 333-335
-
-
Endler, G.1
Kyrle, P.A.2
Eichinger, S.3
Exner, M.4
Mannhalter, C.5
-
16
-
-
5044240595
-
Towards quality assurance and harmonization of genetic testing services in the European Union
-
Ibarreta D, Elles R, Cassiman JJ, Rodriguez-Cerezo E, Dequeker E. Towards quality assurance and harmonization of genetic testing services in the European Union. Nat Biotechnol 2004;10:1230-5.
-
(2004)
Nat. Biotechnol.
, vol.10
, pp. 1230-1235
-
-
Ibarreta, D.1
Elles, R.2
Cassiman, J.J.3
Rodriguez-Cerezo, E.4
Dequeker, E.5
-
17
-
-
84867744676
-
Certified reference materials for genetic testing
-
Fuchs J, Podda M, editors. New York: Marcel Dekker
-
Barton D, Klein CL, Stacey G. Certified reference materials for genetic testing. In: Fuchs J, Podda M, editors. Encyclopedia of diagnostic genomics and proteomics. New York: Marcel Dekker, 2005:226-31.
-
(2005)
Encyclopedia of Diagnostic Genomics and Proteomics
, pp. 226-231
-
-
Barton, D.1
Klein, C.L.2
Stacey, G.3
-
18
-
-
0942276839
-
The intronic prothrombin 19911A→G polymorphism influences splicing efficiency and modulates effects of the 20210G→A polymorphism on mRNA amount and expression in a stable reporter gene assay system
-
von Ahsen N, Oellerich M. The intronic prothrombin 19911A→G polymorphism influences splicing efficiency and modulates effects of the 20210G→A polymorphism on mRNA amount and expression in a stable reporter gene assay system. Blood 2004;103:586-93.
-
(2004)
Blood
, vol.103
, pp. 586-593
-
-
von Ahsen, N.1
Oellerich, M.2
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