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Volumn 40, Issue 2, 2014, Pages 261-268

The UK national external quality assessment scheme for heritable bleeding disorders

Author keywords

hemophilia; molecular genetics; mutational analysis; quality assurance

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; DNA; VON WILLEBRAND FACTOR;

EID: 84896714153     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0034-1365843     Document Type: Article
Times cited : (8)

References (21)
  • 1
    • 84871015816 scopus 로고    scopus 로고
    • F8 haplotype and inhibitor risk: Results from the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort
    • Hemophilia Inhibitor Genetics Study Combined Cohort.
    • Schwarz J., Astermark J., Menius E. D., et al. Hemophilia Inhibitor Genetics Study Combined Cohort. F8 haplotype and inhibitor risk: results from the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort. Haemophilia: 2013; 19 1 113 118
    • (2013) Haemophilia , vol.19 , Issue.1 , pp. 113-118
    • Schwarz, J.1    Astermark, J.2    Menius, E.D.3
  • 2
    • 84863419863 scopus 로고    scopus 로고
    • F8 gene mutation type and inhibitor development in patients with severe hemophilia A: Systematic review and meta-analysis
    • Gouw S. C., van den Berg H. M., Oldenburg J., et al. F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis. Blood: 2012; 119 12 2922 2934
    • (2012) Blood , vol.119 , Issue.12 , pp. 2922-2934
    • Gouw, S.C.1    Van Den Berg, H.M.2    Oldenburg, J.3
  • 3
    • 0036797639 scopus 로고    scopus 로고
    • 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 P. M. Relatively poor performance of clinical laboratories for DNA analyses in the detection of two thrombophilic mutations-A cause for concern. Thromb Haemost: 2002; 88 4 690 691
    • (2002) Thromb Haemost , vol.88 , Issue.4 , pp. 690-691
    • Tripodi, A.1    Peyvandi, F.2    Chantarangkul, V.3    Menegatti, M.4    Mannucci, P.M.5
  • 4
    • 0032729419 scopus 로고    scopus 로고
    • A UK National External Quality Assessment scheme (UK Neqas) for molecular genetic testing for the diagnosis of familial thrombophilia
    • Preston F. E., Kitchen S., Jennings I., Woods T. A. A UK National External Quality Assessment scheme (UK Neqas) for molecular genetic testing for the diagnosis of familial thrombophilia. Thromb Haemost: 1999; 82 5 1556 1557
    • (1999) Thromb Haemost , vol.82 , Issue.5 , pp. 1556-1557
    • Preston, F.E.1    Kitchen, S.2    Jennings, I.3    Woods, T.A.4
  • 5
    • 85084273869 scopus 로고    scopus 로고
    • External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3 years
    • 01
    • Mueller C. R., Kristoffersson U., Stoppa-Lyonnet D. External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3 years. Ann Oncol: 2004; 15 01 I14 I17
    • (2004) Ann Oncol , vol.15
    • Mueller, C.R.1    Kristoffersson, U.2    Stoppa-Lyonnet, D.3
  • 6
    • 13244298331 scopus 로고    scopus 로고
    • External quality assurance of DNA testing for thrombophilia mutations
    • Hertzberg M., Neville S., Favaloro E., McDonald D. External quality assurance of DNA testing for thrombophilia mutations. Am J Clin Pathol: 2005; 123 2 189 193
    • (2005) Am J Clin Pathol , vol.123 , Issue.2 , pp. 189-193
    • Hertzberg, M.1    Neville, S.2    Favaloro, E.3    McDonald, D.4
  • 7
    • 0033932714 scopus 로고    scopus 로고
    • Genetic testing and quality control in diagnostic laboratories
    • Dequeker E., Cassiman J. J. Genetic testing and quality control in diagnostic laboratories. Nat Genet: 2000; 25 3 259 260
    • (2000) Nat Genet , vol.25 , Issue.3 , pp. 259-260
    • Dequeker, E.1    Cassiman, J.J.2
  • 8
    • 85085229183 scopus 로고    scopus 로고
    • Accessed January 30, 2014
    • EQA Schemes. http://www.emqn.org/emqn/Schemes. Accessed January 30, 2014
    • EQA Schemes
  • 9
    • 22744439187 scopus 로고    scopus 로고
    • The molecular analysis of haemophilia A: A guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network
    • UK Haemophilia Center Doctors' Organization Haemophilia Genetics Laboratory Network.
    • Keeney S., Mitchell M., Goodeve A.; UK Haemophilia Center Doctors' Organization Haemophilia Genetics Laboratory Network. The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network. Haemophilia: 2005; 11 4 387 397
    • (2005) Haemophilia , vol.11 , Issue.4 , pp. 387-397
    • Keeney, S.1    Mitchell, M.2    Goodeve, A.3
  • 10
    • 51249102362 scopus 로고    scopus 로고
    • The molecular analysis of von Willebrand disease: A guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network
    • UK Haemophilia Centre Doctors' Organisation (UKHCDO).
    • Keeney S., Bowen D., Cumming A., Enayat S., Goodeve A., Hill M.; UK Haemophilia Centre Doctors' Organisation (UKHCDO). The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network. Haemophilia: 2008; 14 5 1099 1111
    • (2008) Haemophilia , vol.14 , Issue.5 , pp. 1099-1111
    • Keeney, S.1    Bowen, D.2    Cumming, A.3    Enayat, S.4    Goodeve, A.5    Hill, M.6
  • 11
    • 22744452382 scopus 로고    scopus 로고
    • The molecular analysis of haemophilia B: A guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network
    • UK Haemophilia Centre Doctors' Organization Haemophilia Genetics Laboratory Network.
    • Mitchell M., Keeney S., Goodeve A.; UK Haemophilia Centre Doctors' Organization Haemophilia Genetics Laboratory Network. The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network. Haemophilia: 2005; 11 4 398 404
    • (2005) Haemophilia , vol.11 , Issue.4 , pp. 398-404
    • Mitchell, M.1    Keeney, S.2    Goodeve, A.3
  • 12
    • 0021886091 scopus 로고
    • High risk of non-A non-B hepatitis after a first exposure to volunteer or commercial clotting factor concentrates: Effects of prophylactic immune serum globulin
    • Kernoff P. B., Lee C. A., Karayiannis P., Thomas H. C. High risk of non-A non-B hepatitis after a first exposure to volunteer or commercial clotting factor concentrates: effects of prophylactic immune serum globulin. Br J Haematol: 1985; 60 3 469 479
    • (1985) Br J Haematol , vol.60 , Issue.3 , pp. 469-479
    • Kernoff, P.B.1    Lee, C.A.2    Karayiannis, P.3    Thomas, H.C.4
  • 13
    • 0029157066 scopus 로고
    • Mortality before and after HIV infection in the complete UK population of haemophiliacs. UK Haemophilia Centre Directors' Organisation
    • Darby S. C., Ewart D. W., Giangrande P. L., Dolin P. J., Spooner R. J., Rizza C. R. Mortality before and after HIV infection in the complete UK population of haemophiliacs. UK Haemophilia Centre Directors' Organisation. Nature: 1995; 377 6544 79 82
    • (1995) Nature , vol.377 , Issue.6544 , pp. 79-82
    • Darby, S.C.1    Ewart, D.W.2    Giangrande, P.L.3    Dolin, P.J.4    Spooner, R.J.5    Rizza, C.R.6
  • 14
    • 33751213367 scopus 로고    scopus 로고
    • The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia
    • UK NEQAS for Blood Coagulation.
    • Perry D. J., Goodeve A., Hill M., Jennings I., Kitchen S., Walker I.; UK NEQAS for Blood Coagulation. The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia. Thromb Haemost: 2006; 96 5 597 601
    • (2006) Thromb Haemost , vol.96 , Issue.5 , pp. 597-601
    • Perry, D.J.1    Goodeve, A.2    Hill, M.3    Jennings, I.4    Kitchen, S.5    Walker, I.6
  • 15
    • 0029095603 scopus 로고
    • Factor VIII gene inversions in severe hemophilia A: Results of an international consortium study
    • Antonarakis S. E., Rossiter J. P., Young M., et al. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood: 1995; 86 6 2206 2212
    • (1995) Blood , vol.86 , Issue.6 , pp. 2206-2212
    • Antonarakis, S.E.1    Rossiter, J.P.2    Young, M.3
  • 16
    • 0032529667 scopus 로고    scopus 로고
    • Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A
    • Liu Q., Nozari G., Sommer S. S. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood: 1998; 92 4 1458 1459
    • (1998) Blood , vol.92 , Issue.4 , pp. 1458-1459
    • Liu, Q.1    Nozari, G.2    Sommer, S.S.3
  • 17
    • 23344454962 scopus 로고    scopus 로고
    • Genotyping the hemophilia inversion hotspot by use of inverse PCR
    • Rossetti L. C., Radic C. P., Larripa I. B., De Brasi C. D. Genotyping the hemophilia inversion hotspot by use of inverse PCR. Clin Chem: 2005; 51 7 1154 1158
    • (2005) Clin Chem , vol.51 , Issue.7 , pp. 1154-1158
    • Rossetti, L.C.1    Radic, C.P.2    Larripa, I.B.3    De Brasi, C.D.4
  • 18
    • 0036096037 scopus 로고    scopus 로고
    • Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
    • Bagnall R. D., Waseem N., Green P. M., Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood: 2002; 99 1 168 174
    • (2002) Blood , vol.99 , Issue.1 , pp. 168-174
    • Bagnall, R.D.1    Waseem, N.2    Green, P.M.3    Giannelli, F.4
  • 19
    • 84890001211 scopus 로고    scopus 로고
    • Accessed January 30, 2014
    • Best Practice Guidelines. http://www.cmgs.org/BPGs/Best-Practice- Guidelines.htm. Accessed January 30, 2014
    • Best Practice Guidelines
  • 20
    • 20144387063 scopus 로고    scopus 로고
    • A framework for genetic service provision for haemophilia and other inherited bleeding disorders
    • UK Haemophilia Centre Doctors' Organisation.
    • Ludlam C. A., Pasi K. J., Bolton-Maggs P., et al. UK Haemophilia Centre Doctors' Organisation. A framework for genetic service provision for haemophilia and other inherited bleeding disorders. Haemophilia: 2005; 11 2 145 163
    • (2005) Haemophilia , vol.11 , Issue.2 , pp. 145-163
    • Ludlam, C.A.1    Pasi, K.J.2    Bolton-Maggs, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.