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Volumn 38, Issue 1, 2012, Pages 64-78

Role of molecular genetics in hemophilia: From diagnosis to therapy

Author keywords

gene therapy; genetic diagnosis; hemophilia; inhibitor; phenotype; variation

Indexed keywords

ADENO ASSOCIATED VIRUS VECTOR 2; ADENO ASSOCIATED VIRUS VECTOR F8; ADENO ASSOCIATED VIRUS VECTOR F9; PARVOVIRUS VECTOR; SELF COMPLEMENTARY ADENO ASSOCIATED VIRUS VECTOR 8; SELF COMPLEMENTARY ADENO ASSOCIATED VIRUS VECTOR PROTEIN PHOSPHATASE 5; SINGLE STRANDED ADENO ASSOCIATED VIRUS VECTOR; SINGLE STRANDED ADENO ASSOCIATED VIRUS VECTOR 2; UNCLASSIFIED DRUG;

EID: 84857004755     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0031-1300953     Document Type: Conference Paper
Times cited : (24)

References (134)
  • 2
    • 0021750055 scopus 로고
    • Characterization of the human factor VIII gene
    • DOI 10.1038/312326a0
    • Gitschier J, Wood WI, Goralka TM., et al. Characterization of the human factor VIII gene. Nature: 1984; 312 5992 326 330 (Pubitemid 15209308)
    • (1984) Nature , vol.312 , Issue.5992 , pp. 326-330
    • Gitschier, J.1    Wood, W.I.2    Goralka, T.M.3
  • 3
    • 0022257323 scopus 로고
    • Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)
    • DOI 10.1021/bi00335a049
    • Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry: 1985; 24 14 3736 3750 (Pubitemid 15011912)
    • (1985) Biochemistry , vol.24 , Issue.14 , pp. 3736-3750
    • Yoshitake, S.1    Schach, B.G.2    Foster, D.C.3
  • 4
    • 0022162221 scopus 로고
    • The genetic linkage map of the human X chromosome
    • Drayna D, White R. The genetic linkage map of the human X chromosome. Science: 1985; 230 4727 753 758 (Pubitemid 16193963)
    • (1985) Science , vol.230 , Issue.4727 , pp. 753-758
    • Drayna, D.1    White, R.2
  • 5
    • 0021750055 scopus 로고
    • Characterization of the human factor VIII gene
    • DOI 10.1038/312326a0
    • Gitschier JWW, Wood WI, Goralka TM., et al. Characterization of the human factor VIII gene. Nature: 1984; 312 5992 326 330 (Pubitemid 15209308)
    • (1984) Nature , vol.312 , Issue.5992 , pp. 326-330
    • Gitschier, J.1    Wood, W.I.2    Goralka, T.M.3
  • 7
    • 0027351077 scopus 로고
    • Haemophilia: Strategies for carrier detection and prenatal diagnosis
    • Peake IR, Lillicrap DP, Boulyjenkov V., et al. Haemophilia: strategies for carrier detection and prenatal diagnosis. Bull World Health Organ: 1993; 71 3-4 429 458
    • (1993) Bull World Health Organ , vol.71 , Issue.34 , pp. 429-458
    • Peake, I.R.1    Lillicrap, D.P.2    Boulyjenkov, V.3
  • 8
    • 27844606354 scopus 로고    scopus 로고
    • Carrier detection and prenatal diagnosis of hemophilia in developing countries
    • DOI 10.1055/s-2005-922226
    • Peyvandi F. Carrier detection and prenatal diagnosis of hemophilia in developing countries. Semin Thromb Hemost: 2005; 31 5 544 554 (Pubitemid 41642568)
    • (2005) Seminars in Thrombosis and Hemostasis , vol.31 , Issue.5 , pp. 544-554
    • Peyvandi, F.1
  • 9
    • 0028241031 scopus 로고
    • Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene
    • Lalloz MR, Schwaab R, McVey JH, Michaelides K, Tuddenham EG. Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene. Br J Haematol: 1994; 86 4 804 809 (Pubitemid 24194439)
    • (1994) British Journal of Haematology , vol.86 , Issue.4 , pp. 804-809
    • Lalloz, M.R.A.1    Schwaab, R.2    McVey, J.H.3    Michaelides, K.4    Tuddenham, E.G.D.5
  • 10
    • 4844230309 scopus 로고    scopus 로고
    • Informativeness of linkage analysis for genetic diagnosis of haemophilia A in India
    • DOI 10.1111/j.1365-2516.2004.00908.x
    • Jayandharan G, Shaji RV, George B, Chandy M, Srivastava A. Informativeness of linkage analysis for genetic diagnosis of haemophilia A in India. Haemophilia: 2004; 10 5 553 559 (Pubitemid 39317766)
    • (2004) Haemophilia , vol.10 , Issue.5 , pp. 553-559
    • Jayandharan, G.1    Shaji, R.V.2    George, B.3    Chandy, M.4    Srivastava, A.5
  • 12
    • 33845655312 scopus 로고    scopus 로고
    • Prenatal diagnosis of haemophilia a by chorionic villus sampling and cordocentesis: All India Institute of Medical Science experience
    • DOI 10.1111/j.1423-0410.2006.00851.x
    • Ranjan R, Biswas A, Kannan M, Meena A, Deka D, Saxena R. Prenatal diagnosis of haemophilia A by chorionic villus sampling and cordocentesis: all India Institute of Medical Science experience. Vox Sang: 2007; 92 1 79 84 (Pubitemid 44950353)
    • (2007) Vox Sanguinis , vol.92 , Issue.1 , pp. 79-84
    • Ranjan, R.1    Biswas, A.2    Kannan, M.3    Meena, A.4    Deka, D.5    Saxena, R.6
  • 13
    • 33646006106 scopus 로고    scopus 로고
    • A rapid multifluorescent polymerase chain reaction for genetic counselling in Chinese haemophilia A families
    • Fang Y, Wang XF, Dai J, Wang HL. A rapid multifluorescent polymerase chain reaction for genetic counselling in Chinese haemophilia A families. Haemophilia: 2006; 12 1 62 67
    • (2006) Haemophilia , vol.12 , Issue.1 , pp. 62-67
    • Fang, Y.1    Wang, X.F.2    Dai, J.3    Wang, H.L.4
  • 14
    • 0032529667 scopus 로고    scopus 로고
    • Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A [4]
    • Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood: 1998; 92 4 1458 1459 (Pubitemid 28369064)
    • (1998) Blood , vol.92 , Issue.4 , pp. 1458-1459
    • Liu, Q.1    Nozari, G.2    Sommer, S.S.3
  • 15
    • 0036096037 scopus 로고    scopus 로고
    • Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
    • DOI 10.1182/blood.V99.1.168
    • Bagnall RD, Waseem N, Green PM, 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 (Pubitemid 34532979)
    • (2002) Blood , vol.99 , Issue.1 , pp. 168-174
    • Bagnall, R.D.1    Waseem, N.2    Green, P.M.3    Giannelli, F.4
  • 16
    • 0036218048 scopus 로고    scopus 로고
    • Haemophilia A and haemophilia B: Molecular insights
    • Bowen DJ. Haemophilia A and haemophilia B: molecular insights. Mol Pathol: 2002; 55 2 127 144
    • (2002) Mol Pathol , vol.55 , Issue.2 , pp. 127-144
    • Bowen, D.J.1
  • 17
    • 33646138963 scopus 로고    scopus 로고
    • Genetic diagnosis of haemophilia and other inherited bleeding disorders
    • Peyvandi F, Jayandharan G, Chandy M., et al. Genetic diagnosis of haemophilia and other inherited bleeding disorders. Haemophilia: 2006; 12 Suppl 3 82 89
    • (2006) Haemophilia , vol.12 , Issue.SUPPL. 3 , pp. 82-89
    • Peyvandi, F.1    Jayandharan, G.2    Chandy, M.3
  • 18
    • 0023868393 scopus 로고
    • Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA
    • DOI 10.1038/332278a0
    • Jeffreys AJ, Royle NJ, Wilson V, Wong Z. Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA. Nature: 1988; 332 6161 278 281 (Pubitemid 18076662)
    • (1988) Nature , vol.332 , Issue.6161 , pp. 278-281
    • Jeffreys, A.J.1    Royle, N.J.2    Wilson, V.3    Wong, Z.4
  • 20
    • 0029013671 scopus 로고
    • Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: The detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients
    • Pieneman WC, Deutz-Terlouw PP, Reitsma PH, Brit E. Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients. Br J Haematol: 1995; 90 2 442 449
    • (1995) Br J Haematol , vol.90 , Issue.2 , pp. 442-449
    • Pieneman, W.C.1    Deutz-Terlouw, P.P.2    Reitsma, P.H.3    Brit, E.4
  • 21
    • 0025257058 scopus 로고
    • Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis
    • Kogan S, Gitschier J. Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A: 1990; 87 6 2092 2096
    • (1990) Proc Natl Acad Sci U S A , vol.87 , Issue.6 , pp. 2092-2096
    • Kogan, S.1    Gitschier, J.2
  • 22
    • 13244298313 scopus 로고    scopus 로고
    • Evaluation of denaturing high-performance liquid chromatography (DHPLC) in the screening of mutations in hemophilia B patients [5]
    • DOI 10.1111/j.1538-7836.2004.01019.x
    • Herbert O, Trossart M, Boisseau P, Fressinaud E, Gerson F. Evaluation of denaturing high-performance liquid chromatography (DHPLC) in the screening of mutations in hemophilia B patients. J Thromb Haemost: 2004; 2 12 2267 2269 (Pubitemid 40185793)
    • (2004) Journal of Thrombosis and Haemostasis , vol.2 , Issue.12 , pp. 2267-2269
    • Herbert, O.1    Trossaert, M.2    Boisseau, P.3    Fressinaud, E.4    Gerson, F.5
  • 23
    • 2442616249 scopus 로고    scopus 로고
    • Identification of factor IX gene defects using a multiplex PCR and CSGE strategy - A first report
    • Jayandharan G, Shaji RV, Chandy M, Srivastava A. Identification of factor IX gene defects using a multiplex PCR and CSGE strategy-a first report. J Thromb Haemost: 2003; 1 9 2051 2054
    • (2003) J Thromb Haemost , vol.1 , Issue.9 , pp. 2051-2054
    • Jayandharan, G.1    Shaji, R.V.2    Chandy, M.3    Srivastava, A.4
  • 24
    • 24644437294 scopus 로고    scopus 로고
    • Identification of factor VIII gene mutations in 101 patients with haemophilia A: Mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions
    • DOI 10.1111/j.1365-2516.2005.01121.x
    • Jayandharan G, Shaji RV, Baidya S, Nair SC, Chandy M, Srivastava A. Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions. Haemophilia: 2005; 11 5 481 491 (Pubitemid 41283117)
    • (2005) Haemophilia , vol.11 , Issue.5 , pp. 481-491
    • Jayandharan, G.1    Shaji, R.V.2    Baidya, S.3    Nair, S.C.4    Chandy, M.5    Srivastava, A.6
  • 26
    • 84355163077 scopus 로고    scopus 로고
    • Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: Study of 103 families - 15 new mutations
    • Silva Pinto C, Fidalgo T, Salvado R., et al. Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families - 15 new mutations. Haemophilia: 2012; 18 1 129 138
    • (2012) Haemophilia , vol.18 , Issue.1 , pp. 129-138
    • Silva Pinto, C.1    Fidalgo, T.2    Salvado, R.3
  • 27
    • 33646839304 scopus 로고    scopus 로고
    • New insight into the molecular basis of hemophilia A
    • DOI 10.1532/IJH97.06012
    • Oldenburg J, El-Maarri O. New insight into the molecular basis of hemophilia A. Int J Hematol: 2006; 83 2 96 102 (Pubitemid 44227954)
    • (2006) International Journal of Hematology , vol.83 , Issue.2 , pp. 96-102
    • Oldenburg, J.1    El-Maarri, O.2
  • 28
    • 78650033580 scopus 로고    scopus 로고
    • Another step towards understanding hemophilia A molecular pathogenesis
    • Goodeve AC. Another step towards understanding hemophilia A molecular pathogenesis. J Thromb Haemost: 2010; 8 12 2693 2695
    • (2010) J Thromb Haemost , vol.8 , Issue.12 , pp. 2693-2695
    • Goodeve, A.C.1
  • 30
    • 79958066972 scopus 로고    scopus 로고
    • Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: Implications for genotyping
    • Ogata K, Selvaraj SR, Miao HZ, Pipe SW. Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping. J Thromb Haemost: 2011; 9 6 1183 1190
    • (2011) J Thromb Haemost , vol.9 , Issue.6 , pp. 1183-1190
    • Ogata, K.1    Selvaraj, S.R.2    Miao, H.Z.3    Pipe, S.W.4
  • 34
    • 13844319472 scopus 로고    scopus 로고
    • Learning from peer assessment: The role of the external quality assurance multilaboratory thrombophilia test process
    • DOI 10.1055/s-2005-863809
    • Favaloro EJ. Learning from peer assessment: the role of the external quality assurance multilaboratory thrombophilia test process. Semin Thromb Hemost: 2005; 31 1 85 89 (Pubitemid 40262141)
    • (2005) Seminars in Thrombosis and Hemostasis , vol.31 , Issue.1 , pp. 85-89
    • Favaloro, E.J.1
  • 35
    • 33751213367 scopus 로고    scopus 로고
    • The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia
    • DOI 10.1160/TH06-06-0323
    • Perry DJ, 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 (Pubitemid 44782539)
    • (2006) Thrombosis and Haemostasis , 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
  • 36
    • 0032729419 scopus 로고    scopus 로고
    • A UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing for the diagnosis of familial thrombophilia [4]
    • Preston FE, Kitchen S, Jennings I, Woods TA. 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 (Pubitemid 29527657)
    • (1999) Thrombosis and Haemostasis , vol.82 , Issue.5 , pp. 1556-1557
    • Preston, F.E.1    Kitchen, S.2    Jennings, I.3    Woods, T.A.L.4
  • 37
    • 13844319163 scopus 로고    scopus 로고
    • Multilaboratory testing of thrombophilia: Current and past practice in Australasia as assessed through the Royal College of Pathologists of Australasia Quality Assurance Program for Hematology
    • DOI 10.1055/s-2005-863805
    • Favaloro EJ, Bonar R, Sioufi J., et al. RCPA QAP in Haematology. Multilaboratory testing of thrombophilia: current and past practice in Australasia as assessed through the Royal College of Pathologists of Australasia Quality Assurance Program for Hematology. Semin Thromb Hemost: 2005; 31 1 49 58 (Pubitemid 40262137)
    • (2005) Seminars in Thrombosis and Hemostasis , vol.31 , Issue.1 , pp. 49-58
    • Favaloro, E.J.1    Bonar, R.2    Sioufi, J.3    Wheeler, M.4    Low, J.5    Aboud, M.6    Duncan, E.7    Smith, J.8    Exner, T.9    Lloyd, J.10    Marsden, K.11
  • 38
    • 84857011238 scopus 로고    scopus 로고
    • College of American Pathologists Proficiency Testing Program Accessed on January 2, 2012
    • College of American Pathologists Proficiency Testing Program. http://www.cap.org/apps/cap.portal?-nfpb=true&-pageLabel=home. Accessed on January 2, 2012
  • 41
    • 0034003628 scopus 로고    scopus 로고
    • Epidemiological survey of the orthopaedic status of severe haemophilia A and B patients in France
    • DOI 10.1046/j.1365-2516.2000.00358.x
    • Molho P, Rolland N, Lebrun T., et al. Epidemiological survey of the orthopaedic status of severe haemophilia A and B patients in France. The French Study Group. secretariat.haemophiles@cch.ap-hop-paris.fr. Haemophilia: 2000; 6 1 23 32 (Pubitemid 30113898)
    • (2000) Haemophilia , vol.6 , Issue.1 , pp. 23-32
    • Molho, P.1    Rolland, N.2    Lebrun, T.3    Dirat, G.4    Courpied, J.P.5    Croughs, T.6    Duprat, I.7    Sultan, Y.8
  • 42
    • 0028004222 scopus 로고
    • A longitudinal study of orthopaedic outcomes for severe factor-VIII-deficient haemophiliacs
    • Aledort LM, Haschmeyer RH, Pettersson H.; The Orthopaedic Outcome Study Group. A longitudinal study of orthopaedic outcomes for severe factor-VIII-deficient haemophiliacs. J Intern Med: 1994; 236 4 391 399 (Pubitemid 24323199)
    • (1994) Journal of Internal Medicine , vol.236 , Issue.4 , pp. 391-399
    • Aledort, L.M.1    Haschmeyer, R.H.2    Pettersson, H.3
  • 43
    • 0038101450 scopus 로고    scopus 로고
    • Haemophilias A and B
    • DOI 10.1016/S0140-6736(03)13405-8
    • Bolton-Maggs PH, Pasi KJ. Haemophilias A and B. Lancet: 2003; 361 9371 1801 1809 (Pubitemid 36638432)
    • (2003) Lancet , vol.361 , Issue.9371 , pp. 1801-1809
    • Bolton-Maggs, P.H.B.1    Pasi, K.J.2
  • 44
    • 0343820051 scopus 로고    scopus 로고
    • When are children diagnosed as having severe haemophilia and when do they start to bleed? A 10-year single-centre PUP study
    • Pollmann H, Richter H, Ringkamp H, Jürgens H. When are children diagnosed as having severe haemophilia and when do they start to bleed? A 10-year single-centre PUP study. Eur J Pediatr: 1999; 158 Suppl 3 S166 S170 (Pubitemid 30014028)
    • (1999) European Journal of Pediatrics, Supplement , vol.158 , Issue.3
    • Richter, H.1    Ringkamp, H.2    Jurgens, H.3    Pollmann, H.4
  • 45
    • 0006699504 scopus 로고
    • Haemophilia in Sweden. III. Symptomatology, with special reference to differences between haemophilia A and B
    • Ramgren O. Haemophilia in Sweden. III. Symptomatology, with special reference to differences between haemophilia A and B. Acta Med Scand: 1962; 171 237 242
    • (1962) Acta Med Scand , vol.171 , pp. 237-242
    • Ramgren, O.1
  • 46
    • 0015619281 scopus 로고
    • A three-year study of adolescent boys suffering from haemophilia and allied disorders
    • Rainsford SG, Hall A. A three-year study of adolescent boys suffering from haemophilia and allied disorders. Br J Haematol: 1973; 24 5 539 551
    • (1973) Br J Haematol , vol.24 , Issue.5 , pp. 539-551
    • Rainsford, S.G.1    Hall, A.2
  • 47
    • 11144326206 scopus 로고    scopus 로고
    • A survey of factor prophylaxis in the Canadian haemophilia A population
    • DOI 10.1111/j.1365-2516.2004.01045.x
    • Blanchette P, Rivard G, Israels S., et al. Association of Hemophilia Clinic Directors of Canada and Canadian Association of Nurses in Hemophilia Care. A survey of factor prophylaxis in the Canadian haemophilia A population. Haemophilia: 2004; 10 6 679 683 (Pubitemid 40028582)
    • (2004) Haemophilia , vol.10 , Issue.6 , pp. 679-683
    • Blanchette, P.1    Rivard, G.2    Israels, S.3    Robinson, S.4    Ali, K.5    Walker, I.6    Stain, A.M.7    Blanchette, V.8
  • 48
    • 22744445174 scopus 로고    scopus 로고
    • Thrombin generation and phenotypic correlation in haemophilia A
    • DOI 10.1111/j.1365-2516.2005.01107.x
    • Beltrn-Miranda CP, Khan A, Jaloma-Cruz AR, Laffan MA. Thrombin generation and phenotypic correlation in haemophilia A. Haemophilia: 2005; 11 4 326 334 (Pubitemid 41030831)
    • (2005) Haemophilia , vol.11 , Issue.4 , pp. 326-334
    • Beltran-Miranda, C.P.1    Khan, A.2    Jaloma-Cruz, A.R.3    Laffan, M.A.4
  • 49
    • 0036125865 scopus 로고    scopus 로고
    • The utility of activated partial thromboplastin time (aPTT) clot waveform analysis in the investigation of hemophilia A patients with very low levels of factor VIII activity (FVIII:C)
    • Shima M, Matsumoto T, Fukuda K., et al. The utility of activated partial thromboplastin time (aPTT) clot waveform analysis in the investigation of hemophilia A patients with very low levels of factor VIII activity (FVIII:C). Thromb Haemost: 2002; 87 3 436 441 (Pubitemid 34232485)
    • (2002) Thrombosis and Haemostasis , vol.87 , Issue.3 , pp. 436-441
    • Shima, M.1    Matsumoto, T.2    Fukuda, K.3    Kubota, Y.4    Tanaka, I.5    Nishiya, K.6    Giles, A.R.7    Yoshioka, A.8
  • 51
    • 0028855944 scopus 로고
    • Low prevalence of the factor v Leiden mutation among "severeo" hemophiliacs with a "mildero" bleeding diathesis
    • Arbini AA, Mannucci PM, Bauer KA. Low prevalence of the factor V Leiden mutation among "severeo" hemophiliacs with a "mildero" bleeding diathesis. Thromb Haemost: 1995; 74 5 1255 1258
    • (1995) Thromb Haemost , vol.74 , Issue.5 , pp. 1255-1258
    • Arbini, A.A.1    Mannucci, P.M.2    Bauer, K.A.3
  • 53
    • 0035134231 scopus 로고    scopus 로고
    • Milder clinical presentation of haemophilia A with severe deficiency of factor VIII as measured by one-stage assay
    • DOI 10.1046/j.1365-2516.2001.00455.x
    • Ghosh K, Shetty S, Mohanty D. Milder clinical presentation of haemophilia A with severe deficiency of factor VIII as measured by one-stage assay. Haemophilia: 2001; 7 1 9 12 (Pubitemid 32162191)
    • (2001) Haemophilia , vol.7 , Issue.1 , pp. 9-12
    • Ghosh, K.1    Shetty, S.2    Mohanty, D.3
  • 54
  • 55
  • 56
    • 70449706305 scopus 로고    scopus 로고
    • Polymorphism in factor VII gene modifies phenotype of severe haemophilia
    • Jayandharan GR, Nair SC, Poonnoose PM., et al. Polymorphism in factor VII gene modifies phenotype of severe haemophilia. Haemophilia: 2009; 15 6 1228 1236
    • (2009) Haemophilia , vol.15 , Issue.6 , pp. 1228-1236
    • Jayandharan, G.R.1    Nair, S.C.2    Poonnoose, P.M.3
  • 57
    • 84857014342 scopus 로고    scopus 로고
    • A polymorphism in Interferon gamma gene impacts the extent of joint damage in patients with severe hemophilia
    • Abstract 546
    • Jayandharan GR, Chapla A, Nair SC., et al. A polymorphism in Interferon gamma gene impacts the extent of joint damage in patients with severe hemophilia. Blood: 2010; 110 A546 (Suppl.) Abstract 546
    • (2010) Blood , vol.110 , Issue.SUPPL.
    • Jayandharan, G.R.1    Chapla, A.2    Nair, S.C.3
  • 58
    • 80052628400 scopus 로고    scopus 로고
    • Inhibitors of propagation of coagulation (factors VIII, IX and XI): A review of current therapeutic practice
    • Franchini M, Mannucci PM. Inhibitors of propagation of coagulation (factors VIII, IX and XI): a review of current therapeutic practice. Br J Clin Pharmacol: 2011; 72 4 553 562
    • (2011) Br J Clin Pharmacol , vol.72 , Issue.4 , pp. 553-562
    • Franchini, M.1    Mannucci, P.M.2
  • 59
    • 0026548917 scopus 로고
    • Incidence of development of factor VIII and factor IX inhibitors in haemophiliacs
    • Ehrenforth S, Kreuz W, Scharrer I., et al. Incidence of development of factor VIII and factor IX inhibitors in haemophiliacs. Lancet: 1992; 339 8793 594 598
    • (1992) Lancet , vol.339 , Issue.8793 , pp. 594-598
    • Ehrenforth, S.1    Kreuz, W.2    Scharrer, I.3
  • 60
    • 0037330233 scopus 로고    scopus 로고
    • The molecular basis of hemophilia A: Genotype - Phenotype relationships and inhibitor development
    • Goodeve AC, Peake IR. The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development. Semin Thromb Hemost: 2003; 29 1 23 30 (Pubitemid 36250260)
    • (2003) Seminars in Thrombosis and Hemostasis , vol.29 , Issue.1 , pp. 23-30
    • Goodeve, A.C.1    Peake, I.R.2
  • 61
    • 0029552960 scopus 로고
    • Factor IX: Molecular structure, epitopes, and mutations associated with inhibitor formation
    • High KA. Factor IX: molecular structure, epitopes, and mutations associated with inhibitor formation. Adv Exp Med Biol: 1995; 386 79 86 (Pubitemid 26079032)
    • (1995) Advances in Experimental Medicine and Biology , vol.386 , pp. 79-86
    • High, K.A.1
  • 62
    • 76749138587 scopus 로고    scopus 로고
    • Assessing risk factors: Prevention of inhibitors in haemophilia
    • Chambost H. Assessing risk factors: prevention of inhibitors in haemophilia. Haemophilia: 2010; 16 Suppl 2 10 15
    • (2010) Haemophilia , vol.16 , Issue.SUPPL. 2 , pp. 10-15
    • Chambost, H.1
  • 64
    • 0033949469 scopus 로고    scopus 로고
    • Correlation between factor VIII genotype and inhibitor development in hemophilia A
    • Fakharzadeh SS, Kazazian HH Jr. Correlation between factor VIII genotype and inhibitor development in hemophilia A. Semin Thromb Hemost: 2000; 26 2 167 171 (Pubitemid 30439354)
    • (2000) Seminars in Thrombosis and Hemostasis , vol.26 , Issue.2 , pp. 167-171
    • Fakharzadeh, S.S.1    Kazazian Jr., H.H.2
  • 65
    • 9644274261 scopus 로고    scopus 로고
    • Mutating factor VIII: Lessons from structure to function
    • DOI 10.1016/j.blre.2004.02.003, PII S0268960X04000153
    • Fay PJ, Jenkins PV. Mutating factor VIII: lessons from structure to function. Blood Rev: 2005; 19 1 15 27 (Pubitemid 39574246)
    • (2005) Blood Reviews , vol.19 , Issue.1 , pp. 15-27
    • Fay, P.J.1    Jenkins, P.V.2
  • 69
    • 33645751563 scopus 로고    scopus 로고
    • Polymorphisms in the IL10 but not in the IL1beta and IL4 genes are associated with inhibitor development in patients with hemophilia A
    • MIBS Study Group.
    • Astermark J, Oldenburg J, Pavlova A, Berntorp E, Lefvert AK.; MIBS Study Group. Polymorphisms in the IL10 but not in the IL1beta and IL4 genes are associated with inhibitor development in patients with hemophilia A. Blood: 2006; 107 8 3167 3172
    • (2006) Blood , vol.107 , Issue.8 , pp. 3167-3172
    • Astermark, J.1    Oldenburg, J.2    Pavlova, A.3    Berntorp, E.4    Lefvert, A.K.5
  • 70
    • 64749096663 scopus 로고    scopus 로고
    • Inhibitors of factor VIII in black patients with hemophilia
    • Viel KR, Ameri A, Abshire TC., et al. Inhibitors of factor VIII in black patients with hemophilia. N Engl J Med: 2009; 360 16 1618 1627
    • (2009) N Engl J Med , vol.360 , Issue.16 , pp. 1618-1627
    • Viel, K.R.1    Ameri, A.2    Abshire, T.C.3
  • 71
    • 33846420672 scopus 로고    scopus 로고
    • Polymorphisms in the CTLA-4 gene and inhibitor development in patients with severe hemophilia A [1]
    • DOI 10.1111/j.1538-7836.2007.02290.x
    • Astermark J, Wang X, Oldenburg J, Berntorp E, Lefvert AK.; MIBS Study Group. Polymorphisms in the CTLA-4 gene and inhibitor development in patients with severe hemophilia A. J Thromb Haemost: 2007; 5 2 263 265 (Pubitemid 46139449)
    • (2007) Journal of Thrombosis and Haemostasis , vol.5 , Issue.2 , pp. 263-265
    • Astermark, J.1    Wang, X.2    Oldenburg, J.3    Berntorp, E.4    Lefvert, A.-K.5
  • 72
    • 33845239946 scopus 로고    scopus 로고
    • Polymorphisms in the TNFA gene and the risk of inhibitor development in patients with hemophilia A
    • DOI 10.1182/blood-2006-05-024711
    • Astermark J, Oldenburg J, Carlson J., et al. Polymorphisms in the TNFA gene and the risk of inhibitor development in patients with hemophilia A. Blood: 2006; 108 12 3739 3745 (Pubitemid 44864553)
    • (2006) Blood , vol.108 , Issue.12 , pp. 3739-3745
    • Astermark, J.1    Oldenburg, J.2    Carlson, J.3    Pavlova, A.4    Kavakli, K.5    Berntorp, E.6    Lefvert, A.-K.7
  • 73
    • 28344447401 scopus 로고    scopus 로고
    • Cellular immune responses in hemophilia: Why do inhibitors develop in some, but not all hemophiliacs?
    • DOI 10.1111/j.1538-7836.2005.01375.x
    • White GC II, Kempton CL, Grimsley A, Nielsen B, Roberts HR. Cellular immune responses in hemophilia: why do inhibitors develop in some, but not all hemophiliacs? J Thromb Haemost: 2005; 3 8 1676 1681 (Pubitemid 41716553)
    • (2005) Journal of Thrombosis and Haemostasis , vol.3 , Issue.8 , pp. 1676-1681
    • White II, G.C.1    Kempton, C.L.2    Grimsley, A.3    Nielsen, B.4    Roberts, H.R.5
  • 74
    • 9144232123 scopus 로고    scopus 로고
    • Inhibitors in congenital coagulation disorders
    • DOI 10.1111/j.1365-2141.2004.05168.x
    • Key NS. Inhibitors in congenital coagulation disorders. Br J Haematol: 2004; 127 4 379 391 (Pubitemid 39539246)
    • (2004) British Journal of Haematology , vol.127 , Issue.4 , pp. 379-391
    • Key, N.S.1
  • 75
    • 0042626369 scopus 로고    scopus 로고
    • The incidence of inhibitor development according to specific mutations - And treatment?
    • DOI 10.1097/00001721-200306001-00005
    • Goodeve A. The incidence of inhibitor development according to specific mutationsand treatment? Blood Coagul Fibrinolysis: 2003; 14 Suppl 1 S17 S21 (Pubitemid 36951877)
    • (2003) Blood Coagulation and Fibrinolysis , vol.14 , Issue.SUPPL. 1
    • Goodeve, A.1
  • 76
    • 73449136913 scopus 로고    scopus 로고
    • The Jeremiah Metzger Lecture: Gene therapy for inherited disorders: From Christmas disease to Lebers amaurosis
    • High KA. The Jeremiah Metzger Lecture: gene therapy for inherited disorders: from Christmas disease to Lebers amaurosis. Trans Am Clin Climatol Assoc: 2009; 120 331 359
    • (2009) Trans Am Clin Climatol Assoc , vol.120 , pp. 331-359
    • High, K.A.1
  • 77
    • 0026641562 scopus 로고
    • Helper virus induced T cell lymphoma in nonhuman primates after retroviral mediated gene transfer
    • Donahue RE, Kessler SW, Bodine D., et al. Helper virus induced T cell lymphoma in nonhuman primates after retroviral mediated gene transfer. J Exp Med: 1992; 176 4 1125 1135
    • (1992) J Exp Med , vol.176 , Issue.4 , pp. 1125-1135
    • Donahue, R.E.1    Kessler, S.W.2    Bodine, D.3
  • 81
    • 54249126862 scopus 로고    scopus 로고
    • Gene therapy using adeno-associated virus vectors
    • Daya S, Berns KI. Gene therapy using adeno-associated virus vectors. Clin Microbiol Rev: 2008; 21 4 583 593
    • (2008) Clin Microbiol Rev , vol.21 , Issue.4 , pp. 583-593
    • Daya, S.1    Berns, K.I.2
  • 82
    • 21244463942 scopus 로고    scopus 로고
    • Recent developments in recombinant AAV-mediated gene therapy for lung diseases
    • DOI 10.2174/1566523054064986
    • Flotte TR. Recent developments in recombinant AAV-mediated gene therapy for lung diseases. Curr Gene Ther: 2005; 5 3 361 366 (Pubitemid 40895020)
    • (2005) Current Gene Therapy , vol.5 , Issue.3 , pp. 361-366
    • Flotte, T.R.1
  • 86
    • 21244476011 scopus 로고    scopus 로고
    • AAV-mediated gene transfer for treatment of hemophilia
    • DOI 10.2174/1566523054065048
    • Wang L, Herzog RW. AAV-mediated gene transfer for treatment of hemophilia. Curr Gene Ther: 2005; 5 3 349 360 (Pubitemid 40895019)
    • (2005) Current Gene Therapy , vol.5 , Issue.3 , pp. 349-360
    • Wang, L.1    Herzog, R.W.2
  • 87
    • 0032958487 scopus 로고    scopus 로고
    • Human factor VIII can be packaged and functionally expressed in an adeno-associated virus background: Applicability to haemophilia A gene therapy
    • DOI 10.1046/j.1365-2141.1999.01137.x
    • Gnatenko DV, Saenko EL, Jesty J, Cao LX, Hearing P, Bahou WF. Human factor VIII can be packaged and functionally expressed in an adeno-associated virus background: applicability to haemophilia A gene therapy. Br J Haematol: 1999; 104 1 27 36 (Pubitemid 29037014)
    • (1999) British Journal of Haematology , vol.104 , Issue.1 , pp. 27-36
    • Gnatenko, D.V.1    Saenko, E.L.2    Jesty, J.3    Cao, L.-X.4    Hearing, P.5    Bahou, W.F.6
  • 88
    • 0141450407 scopus 로고    scopus 로고
    • A single adeno-associated virus (AAV)-murine factor VIII vector partially corrects the hemophilia A phenotype
    • Sarkar R, Xiao W, Kazazian HH Jr. A single adeno-associated virus (AAV)-murine factor VIII vector partially corrects the hemophilia A phenotype. J Thromb Haemost: 2003; 1 2 220 226
    • (2003) J Thromb Haemost , vol.1 , Issue.2 , pp. 220-226
    • Sarkar, R.1    Xiao, W.2    Kazazian Jr., H.H.3
  • 89
    • 0036264622 scopus 로고    scopus 로고
    • Parvovirus-mediated gene transfer for the haemophilias
    • DOI 10.1046/j.1351-8216.2001.00121.x
    • Walsh CE, Chao H. Parvovirus-mediated gene transfer for the haemophilias. Haemophilia: 2002; 8 Suppl 2 60 67 (Pubitemid 34498631)
    • (2002) Haemophilia , vol.8 , Issue.SUPPL. 2 , pp. 60-67
    • Walsh, C.E.1    Chao, H.2
  • 92
    • 51049086842 scopus 로고    scopus 로고
    • Strategies for improving the transduction efficiency of single-stranded adeno-associated virus vectors in vitro and in vivo
    • Jayandharan GR, Zhong L, Li B, Kachniarz B, Srivastava A. Strategies for improving the transduction efficiency of single-stranded adeno-associated virus vectors in vitro and in vivo. Gene Ther: 2008; 15 18 1287 1293
    • (2008) Gene Ther , vol.15 , Issue.18 , pp. 1287-1293
    • Jayandharan, G.R.1    Zhong, L.2    Li, B.3    Kachniarz, B.4    Srivastava, A.5
  • 93
    • 77949674544 scopus 로고    scopus 로고
    • Optimized adeno-associated virus (AAV)-protein phosphatase-5 helper viruses for efficient liver transduction by single-stranded AAV vectors: Therapeutic expression of factor IX at reduced vector doses
    • Jayandharan GR, Zhong L, Sack BK., et al. Optimized adeno-associated virus (AAV)-protein phosphatase-5 helper viruses for efficient liver transduction by single-stranded AAV vectors: therapeutic expression of factor IX at reduced vector doses. Hum Gene Ther: 2010; 21 3 271 283
    • (2010) Hum Gene Ther , vol.21 , Issue.3 , pp. 271-283
    • Jayandharan, G.R.1    Zhong, L.2    Sack, B.K.3
  • 94
    • 78049478882 scopus 로고    scopus 로고
    • Proteasome inhibitors enhance gene delivery by AAV virus vectors expressing large genomes in hemophilia mouse and dog models: A strategy for broad clinical application
    • Monahan PE, Lothrop CD, Sun J., et al. Proteasome inhibitors enhance gene delivery by AAV virus vectors expressing large genomes in hemophilia mouse and dog models: a strategy for broad clinical application. Mol Ther: 2010; 18 11 1907 1916
    • (2010) Mol Ther , vol.18 , Issue.11 , pp. 1907-1916
    • Monahan, P.E.1    Lothrop, C.D.2    Sun, J.3
  • 95
    • 79952194475 scopus 로고    scopus 로고
    • Efficacy and safety of long-term prophylaxis in severe hemophilia A dogs following liver gene therapy using AAV vectors
    • Sabatino DE, Lange AM, Altynova ES., et al. Efficacy and safety of long-term prophylaxis in severe hemophilia A dogs following liver gene therapy using AAV vectors. Mol Ther: 2011; 19 3 442 449
    • (2011) Mol Ther , vol.19 , Issue.3 , pp. 442-449
    • Sabatino, D.E.1    Lange, A.M.2    Altynova, E.S.3
  • 96
    • 79954622209 scopus 로고    scopus 로고
    • Therapeutic in vivo gene transfer for genetic disease using AAV: Progress and challenges
    • Mingozzi F, High KA. Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges. Nat Rev Genet: 2011; 12 5 341 355
    • (2011) Nat Rev Genet , vol.12 , Issue.5 , pp. 341-355
    • Mingozzi, F.1    High, K.A.2
  • 99
    • 33846934410 scopus 로고    scopus 로고
    • Safe and efficient transduction of the liver after peripheral vein infusion of self-complementary AAV vector results in stable therapeutic expression of human FIX in nonhuman primates
    • DOI 10.1182/blood-2006-03-010181
    • Nathwani AC, Gray JT, McIntosh J., et al. Safe and efficient transduction of the liver after peripheral vein infusion of self-complementary AAV vector results in stable therapeutic expression of human FIX in nonhuman primates. Blood: 2007; 109 4 1414 1421 (Pubitemid 46239572)
    • (2007) Blood , vol.109 , Issue.4 , pp. 1414-1421
    • Nathwani, A.C.1    Gray, J.T.2    McIntosh, J.3    Ng, C.Y.C.4    Zhou, J.5    Spence, Y.6    Cochrane, M.7    Gray, E.8    Tuddenham, E.G.D.9    Davidoff, A.M.10
  • 100
    • 33645528206 scopus 로고    scopus 로고
    • Self-complementary adeno-associated virus vectors containing a novel liver-specific human factor IX expression cassette enable highly efficient transduction of murine and nonhuman primate liver
    • Nathwani AC, Gray JT, Ng CY., et al. Self-complementary adeno-associated virus vectors containing a novel liver-specific human factor IX expression cassette enable highly efficient transduction of murine and nonhuman primate liver. Blood: 2006; 107 7 2653 2661
    • (2006) Blood , vol.107 , Issue.7 , pp. 2653-2661
    • Nathwani, A.C.1    Gray, J.T.2    Ng, C.Y.3
  • 103
    • 59649122961 scopus 로고    scopus 로고
    • Long-term correction of inhibitor-prone hemophilia B dogs treated with liver-directed AAV2-mediated factor IX gene therapy
    • Niemeyer GP, Herzog RW, Mount J., et al. Long-term correction of inhibitor-prone hemophilia B dogs treated with liver-directed AAV2-mediated factor IX gene therapy. Blood: 2009; 113 4 797 806
    • (2009) Blood , vol.113 , Issue.4 , pp. 797-806
    • Niemeyer, G.P.1    Herzog, R.W.2    Mount, J.3
  • 109
    • 35349027352 scopus 로고    scopus 로고
    • Immune responses to AAV in clinical trials
    • DOI 10.2174/156652307782151425
    • Mingozzi F, High KA. Immune responses to AAV in clinical trials. Curr Gene Ther: 2007; 7 5 316 324 (Pubitemid 47595774)
    • (2007) Current Gene Therapy , vol.7 , Issue.5 , pp. 316-324
    • Mingozzi, F.1    High, K.A.2
  • 110
    • 44049083209 scopus 로고    scopus 로고
    • Immunity to adeno-associated virus vectors in animals and humans: A continued challenge
    • DOI 10.1038/gt.2008.54, PII GT200854, Special Issue: AAV Vectors for Clinical GeneTherapy
    • Zaiss AK, Muruve DA. Immunity to adeno-associated virus vectors in animals and humans: a continued challenge. Gene Ther: 2008; 15 11 808 816 (Pubitemid 351712613)
    • (2008) Gene Therapy , vol.15 , Issue.11 , pp. 808-816
    • Zaiss, A.K.1    Muruve, D.A.2
  • 112
    • 77949423314 scopus 로고    scopus 로고
    • Modulation of T cell response to the AAV capsid in subjects undergoing intramuscular gene transfer for lipoprotein lipase deficiency
    • Mingozzi F, Kleefstra A, Meulenberg J., et al. Modulation of T cell response to the AAV capsid in subjects undergoing intramuscular gene transfer for lipoprotein lipase deficiency. Hum Gene Ther: 2008; 19 10 1090
    • (2008) Hum Gene Ther , vol.19 , Issue.10 , pp. 1090
    • Mingozzi, F.1    Kleefstra, A.2    Meulenberg, J.3
  • 114
    • 78650898983 scopus 로고    scopus 로고
    • High-efficiency transduction and correction of murine hemophilia B using AAV2 vectors devoid of multiple surface-exposed tyrosines
    • Markusic DM, Herzog RW, Aslanidi GV., et al. High-efficiency transduction and correction of murine hemophilia B using AAV2 vectors devoid of multiple surface-exposed tyrosines. Mol Ther: 2010; 18 12 2048 2056
    • (2010) Mol Ther , vol.18 , Issue.12 , pp. 2048-2056
    • Markusic, D.M.1    Herzog, R.W.2    Aslanidi, G.V.3
  • 115
    • 79952753720 scopus 로고    scopus 로고
    • Activation of the NF-B pathway by AAV vectors and its implications in immune response and gene therapy
    • Jayandharan GR, Aslanidi G, Martino AT., et al. Activation of the NF-B pathway by AAV vectors and its implications in immune response and gene therapy. Proc Natl Acad Sci U S A: 2011; 108 9 3743 3748
    • (2011) Proc Natl Acad Sci U S A , vol.108 , Issue.9 , pp. 3743-3748
    • Jayandharan, G.R.1    Aslanidi, G.2    Martino, A.T.3
  • 116
    • 58149459993 scopus 로고    scopus 로고
    • Enhancing transduction of the liver by adeno-associated viral vectors
    • Nathwani AC, Cochrane M, McIntosh J., et al. Enhancing transduction of the liver by adeno-associated viral vectors. Gene Ther: 2009; 16 1 60 69
    • (2009) Gene Ther , vol.16 , Issue.1 , pp. 60-69
    • Nathwani, A.C.1    Cochrane, M.2    McIntosh, J.3
  • 117
    • 79959201563 scopus 로고    scopus 로고
    • The genome of self-complementary adeno-associated viral vectors increases Toll-like receptor 9-dependent innate immune responses in the liver
    • Martino AT, Suzuki M, Markusic DM., et al. The genome of self-complementary adeno-associated viral vectors increases Toll-like receptor 9-dependent innate immune responses in the liver. Blood: 2011; 117 24 6459 6468
    • (2011) Blood , vol.117 , Issue.24 , pp. 6459-6468
    • Martino, A.T.1    Suzuki, M.2    Markusic, D.M.3
  • 118
    • 0037241181 scopus 로고    scopus 로고
    • Does the MTHFR 677T allele alter the clinical phenotype in severe haemophilia A?
    • DOI 10.1016/S0049-3848(03)00144-0
    • Ahmed R, Kannan M, Choudhry VP, Saxena R. Does the MTHFR 677T allele alter the clinical phenotype in severe haemophilia A? Thromb Res: 2003; 109 1 71 72 (Pubitemid 36385050)
    • (2003) Thrombosis Research , vol.109 , Issue.1 , pp. 71-72
    • Ahmed, R.1    Kannan, M.2    Choudhry, V.P.3    Saxena, R.4
  • 120
    • 58849131062 scopus 로고    scopus 로고
    • Circulating endothelial cells (CECs) and progenitors (CEPs) in severe haemophiliacs with different clinical phenotype
    • Biguzzi E, Mancuso P, Franchi F., et al. Circulating endothelial cells (CECs) and progenitors (CEPs) in severe haemophiliacs with different clinical phenotype. Br J Haematol: 2009; 144 5 803 805
    • (2009) Br J Haematol , vol.144 , Issue.5 , pp. 803-805
    • Biguzzi, E.1    Mancuso, P.2    Franchi, F.3
  • 121
    • 17044402672 scopus 로고    scopus 로고
    • HFE mutations in the pathobiology of hemophilic arthropathy
    • Cruz E, Porto G, Morais S, Campos M, de Sousa M. HFE mutations in the pathobiology of hemophilic arthropathy. Blood: 2005; 105 8 3381 3382
    • (2005) Blood , vol.105 , Issue.8 , pp. 3381-3382
    • Cruz, E.1    Porto, G.2    Morais, S.3    Campos, M.4    De Sousa, M.5
  • 122
    • 0036860471 scopus 로고    scopus 로고
    • Paradoxical hyperfibrinolysis is associated with a more intensely haemorrhagic phenotype in severe congenital haemophilia
    • Grünewald M, Siegemund A, Grünewald A, Konegan A, Koksch M, Griesshammer M. Paradoxical hyperfibrinolysis is associated with a more intensely haemorrhagic phenotype in severe congenital haemophilia. Haemophilia: 2002; 8 6 768 775 (Pubitemid 35446629)
    • (2002) Haemophilia , vol.8 , Issue.6 , pp. 768-775
    • Grunewald, M.1    Siegemund, A.2    Grunewald, A.3    Konegen, A.4    Koksch, M.5    Griesshammer, M.6
  • 123
    • 73949097582 scopus 로고    scopus 로고
    • Thrombin generation in vitro in the presence of by-passing agents in siblings with severe haemophilia A
    • MIBS Study Group.
    • Klintman J, Berntorp E, Astermark J.; MIBS Study Group. Thrombin generation in vitro in the presence of by-passing agents in siblings with severe haemophilia A. Haemophilia: 2010; 16 1 e210 e215
    • (2010) Haemophilia , vol.16 , Issue.1
    • Klintman, J.1    Berntorp, E.2    Astermark, J.3
  • 126
    • 80051579334 scopus 로고    scopus 로고
    • Thrombin generation assay using factor IXa as a trigger to quantify accurately factor VIII levels in haemophilia A
    • Ninivaggi M, Dargaud Y, van Oerle R, de Laat B, Hemker HC, Lindhout T. Thrombin generation assay using factor IXa as a trigger to quantify accurately factor VIII levels in haemophilia A. J Thromb Haemost: 2011; 9 8 1549 1555
    • (2011) J Thromb Haemost , vol.9 , Issue.8 , pp. 1549-1555
    • Ninivaggi, M.1    Dargaud, Y.2    Van Oerle, R.3    De Laat, B.4    Hemker, H.C.5    Lindhout, T.6
  • 127
    • 0035758034 scopus 로고    scopus 로고
    • Coexistence of a common prothrombotic risk factor and hemophilia in the Bulgarian hemophilic population:genotype/phenotype correlations
    • Petkova R, Chakarov S, Horvath A, Ganev V, Kremensky I. Coexistence of a common prothrombotic risk factor and hemophilia in the Bulgarian hemophilic population:genotype/phenotype correlations. Balkan J Med Genet: 2001; 4 3-4 37 39
    • (2001) Balkan J Med Genet , vol.4 , Issue.34 , pp. 37-39
    • Petkova, R.1    Chakarov, S.2    Horvath, A.3    Ganev, V.4    Kremensky, I.5
  • 128
    • 77952766250 scopus 로고    scopus 로고
    • Severe hemophilia with mild bleeding phenotype: Molecular characterization and global coagulation profile
    • Santagostino E, Mancuso ME, Tripodi A., et al. Severe hemophilia with mild bleeding phenotype: molecular characterization and global coagulation profile. J Thromb Haemost: 2010; 8 4 737 743
    • (2010) J Thromb Haemost , vol.8 , Issue.4 , pp. 737-743
    • Santagostino, E.1    Mancuso, M.E.2    Tripodi, A.3
  • 130
    • 34447314172 scopus 로고    scopus 로고
    • Contribution of natural anticoagulant and fibrinolytic factors in modulating the clinical severity of haemophilia patients
    • DOI 10.1111/j.1365-2141.2007.06693.x
    • Shetty S, Vora S, Kulkarni B., et al. Contribution of natural anticoagulant and fibrinolytic factors in modulating the clinical severity of haemophilia patients. Br J Haematol: 2007; 138 4 541 544 (Pubitemid 47063041)
    • (2007) British Journal of Haematology , vol.138 , Issue.4 , pp. 541-544
    • Shetty, S.1    Vora, S.2    Kulkarni, B.3    Mota, L.4    Vijapurkar, M.5    Quadros, L.6    Ghosh, K.7
  • 131
    • 33746152007 scopus 로고    scopus 로고
    • Platelets as modifiers of clinical phenotype in hemophilia
    • DOI 10.1100/tsw.2006.133
    • Yee DL. Platelets as modifiers of clinical phenotype in hemophilia. Scientific World J: 2006; 6 661 668 (Pubitemid 44086411)
    • (2006) TheScientificWorldJournal , vol.6 , pp. 661-668
    • Yee, D.L.1
  • 132
    • 24644521462 scopus 로고    scopus 로고
    • Variability in clinical phenotype of severe haemophilia: The role of the first joint bleed
    • DOI 10.1111/j.1365-2516.2005.01124.x
    • van Dijk K, Fischer K, van der Bom JG, Grobbee DE, van den Berg HM. Variability in clinical phenotype of severe haemophilia: the role of the first joint bleed. Haemophilia: 2005; 11 5 438 443 (Pubitemid 41283110)
    • (2005) Haemophilia , vol.11 , Issue.5 , pp. 438-443
    • Van Dijk, K.1    Fischer, K.2    Van Der Bom, J.G.3    Grobbee, D.E.4    Van Den Berg, H.M.5
  • 134
    • 84855161388 scopus 로고    scopus 로고
    • Adenovirus-associated virus vector-mediated gene transfer in hemophilia B
    • Nathwani AC, Tuddenham EG, Rangarajan S., et al. Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med: 2011; 365 25 2357 2365
    • (2011) N Engl J Med , vol.365 , Issue.25 , pp. 2357-2365
    • Nathwani, A.C.1    Tuddenham, E.G.2    Rangarajan, S.3


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