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Results: 1-18 |
Results: 18
A second case of Hb Renert [beta 133(H11)Val -> Ala]
Authors: Wilson, G Forrest, P Heppinstall, S Green, BN Goodeve, AC Peake, IR Reilly, JT Porter, N Rees, DC
Citation: G. Wilson et al., A second case of Hb Renert [beta 133(H11)Val -> Ala], HEMOGLOBIN, 25(3), 2001, pp. 337-340
A standard nomenclature for von Willebrand factor gene mutations and polymorphisms
Authors: Goodeve, AC Eikenboom, JCJ Ginsburg, D Hilbert, L Mazurier, C Peake, IR Sadler, JE Rodeghiero, F
Citation: Ac. Goodeve et al., A standard nomenclature for von Willebrand factor gene mutations and polymorphisms, THROMB HAEM, 85(5), 2001, pp. 929-931
Identification of novel FLT-3 Asp835 mutations in adult acute myeloid leukaemia
Authors: Abu-Duhier, FM Goodeve, AC Wilson, GA Care, RS Peake, IR Reilly, JT
Citation: Fm. Abu-duhier et al., Identification of novel FLT-3 Asp835 mutations in adult acute myeloid leukaemia, BR J HAEM, 113(4), 2001, pp. 983-988
Genomic structure of human FLT3: Implications for mutational analysis
Authors: Abu-Duhier, FM Goodeve, AC Wilson, GA Care, RS Peake, IR Reilly, JT
Citation: Fm. Abu-duhier et al., Genomic structure of human FLT3: Implications for mutational analysis, BR J HAEM, 113(4), 2001, pp. 1076-1077
Endoplasmic reticulum retention and prolonged association of a von Willebrand's disease-causing von Willebrand factor variant with ERp57 and calnexin
Authors: Allen, S Goodeve, AC Peake, IR Daly, ME
Citation: S. Allen et al., Endoplasmic reticulum retention and prolonged association of a von Willebrand's disease-causing von Willebrand factor variant with ERp57 and calnexin, BIOC BIOP R, 280(2), 2001, pp. 448-453
Assembly of multimeric von Willebrand factor directs sorting of P-selectin
Authors: Hop, C Guilliatt, A Daly, M de Leeuw, HP Brinkman, HJM Peake, IR van Mourik, JA Pannekoek, H
Citation: C. Hop et al., Assembly of multimeric von Willebrand factor directs sorting of P-selectin, ART THROM V, 20(7), 2000, pp. 1763-1768
Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factorVIII (Recombinate(TM))
Authors: Goodeve, AC Williams, I Bray, GL Peake, IR
Citation: Ac. Goodeve et al., Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factorVIII (Recombinate(TM)), THROMB HAEM, 83(6), 2000, pp. 844-848
Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency - Partial/complete deletions and rearrangementof the antithrombin gene
Authors: Beauchamp, NJ Makris, M Preston, FE Peake, IR Daly, ME
Citation: Nj. Beauchamp et al., Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency - Partial/complete deletions and rearrangementof the antithrombin gene, THROMB HAEM, 83(5), 2000, pp. 715-721
Are aberrant BCR-ABL transcripts more common than previously thought?
Authors: Wilson, GA Vandenberghe, EA Pollitt, RC Rees, DC Goodeve, AC Peake, IR Reilly, JT
Citation: Ga. Wilson et al., Are aberrant BCR-ABL transcripts more common than previously thought?, BR J HAEM, 111(4), 2000, pp. 1109-1111
FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group
Authors: Abu-Duhier, FM Goodeve, AC Wilson, GA Gari, MA Peake, IR Rees, DC Vandenberghe, EA Winship, PR Reilly, JT
Citation: Fm. Abu-duhier et al., FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group, BR J HAEM, 111(1), 2000, pp. 190-195
Influence of the-675 4G/5G dimorphism of the plasminogen activator inhibitor 1 promoter on thrombotic risk in patients with factor V Leiden
Authors: Visanji, JM Seargent, J Tahri, D Croft, SA Makris, M Preston, FE Peake, IR Daly, ME
Citation: Jm. Visanji et al., Influence of the-675 4G/5G dimorphism of the plasminogen activator inhibitor 1 promoter on thrombotic risk in patients with factor V Leiden, BR J HAEM, 110(1), 2000, pp. 135-138
A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion
Authors: Allen, S Abuzenadah, AM Hinks, J Blagg, JL Gursel, T Ingerslev, J Goodeve, AC Peake, IR Daly, ME
Citation: S. Allen et al., A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion, BLOOD, 96(2), 2000, pp. 560-568
Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S
Authors: Makris, M Leach, M Beauchamp, NJ Daly, ME Cooper, PC Hampton, KK Bayliss, P Peake, IR Miller, GJ Preston, FE
Citation: M. Makris et al., Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S, BLOOD, 95(6), 2000, pp. 1935-1941
Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor
Authors: Allen, S Abuzenadah, AM Blagg, JL Hinks, J Nesbitt, IM Goodeve, AC Gursel, T Ingerslev, J Peake, IR Daly, ME
Citation: S. Allen et al., Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor, BLOOD, 95(6), 2000, pp. 2000-2007
Null alleles are not a common cause of type 1 von Willebrand disease in the British population
Authors: Coughlan, TC Blagg, JL Abulola, M Daly, ME Hampton, KK Makris, M Peake, IR Goodeve, AC
Citation: Tc. Coughlan et al., Null alleles are not a common cause of type 1 von Willebrand disease in the British population, THROMB HAEM, 82(4), 1999, pp. 1373-1375
A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations
Authors: Nesbitt, IM Hampton, KK Preston, FE Peake, IR Goodeve, AC
Citation: Im. Nesbitt et al., A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations, THROMB HAEM, 82(3), 1999, pp. 1061-1064
Utilization of previously treated patients (PTPs), noninfected patients (NIPs), and previously untreated patients (PUPs) in the evaluation of new factor VIII and factor IX concentrates - Recommendation of the Scientific Subcommittee on Factor VIII and Factor IX of the Scientific and StandardizationCommittee of the International Society on Thrombosis and Haemostasis
Authors: White, GC DiMichele, D Mertens, K Negrier, C Peake, IR Prowse, C Schwaab, R Yoshioka, A Ingerslev, J
Citation: Gc. White et al., Utilization of previously treated patients (PTPs), noninfected patients (NIPs), and previously untreated patients (PUPs) in the evaluation of new factor VIII and factor IX concentrates - Recommendation of the Scientific Subcommittee on Factor VIII and Factor IX of the Scientific and StandardizationCommittee of the International Society on Thrombosis and Haemostasis, THROMB HAEM, 81(3), 1999, pp. 462-462
A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis
Authors: Hinks, JL Winship, PR Makris, M Preston, FE Peake, IR Goodeve, AC
Citation: Jl. Hinks et al., A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis, BR J HAEM, 104(4), 1999, pp. 915-918
Risultati: 1-18 |