Anne C Goodeve

Summary

Affiliation: University of Sheffield
Country: UK

Publications

  1. doi request reprint The genetic basis of von Willebrand disease
    Anne C Goodeve
    Haemostasis Research Group, Department of Cardiovascular Science, University of Sheffield, UK
    Blood Rev 24:123-34. 2010
  2. ncbi request reprint The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development
    Anne C Goodeve
    Academic Unit of Haematology, Division of Genomic Medicine, Royal Hallamshire Hospital, Sheffield, United Kingdom
    Semin Thromb Hemost 29:23-30. 2003
  3. ncbi request reprint The incidence of inhibitor development according to specific mutations--and treatment?
    Anne Goodeve
    Academic Unit of Haematology, Division of Genomic Medicine, Royal Hallamshire Hospital, Sheffield, South Yorkshire, UK
    Blood Coagul Fibrinolysis 14:S17-21. 2003
  4. ncbi request reprint A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor
    A C Goodeve
    Division of Genomic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Thromb Haemost 85:929-31. 2001
  5. ncbi request reprint Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
    Anne Goodeve
    The Academic Unit of Haematology, University of Sheffield, United Kingdom
    Blood 109:112-21. 2007
  6. ncbi request reprint Genetics of type 1 von Willebrand disease
    Anne Goodeve
    Academic Unit of Haematology, University of Sheffield, Sheffield, UK
    Curr Opin Hematol 14:444-9. 2007
  7. doi request reprint Molecular genetic testing of hemophilia A
    Anne Goodeve
    Sheffield Molecular Genetics Service, Sheffield Children s NHS Foundation Trust, Sheffield, UK
    Semin Thromb Hemost 34:491-501. 2008
  8. doi request reprint Haemophilia A and von Willebrand's disease
    A C Goodeve
    Department of Cardiovascular Science, University of Sheffield, Sheffield, UK
    Haemophilia 16:79-84. 2010
  9. doi request reprint Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study
    Martina E Daly
    Academic Unit of Haematology, School of Medicine and Biomedical Sciences, University of Sheffield, Sheffield, United Kingdom
    Blood 113:4110-3. 2009
  10. ncbi request reprint Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias
    Rory S Care
    Academic Unit of Haematology, Division of Genomic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Br J Haematol 121:775-7. 2003

Collaborators

Detail Information

Publications25

  1. doi request reprint The genetic basis of von Willebrand disease
    Anne C Goodeve
    Haemostasis Research Group, Department of Cardiovascular Science, University of Sheffield, UK
    Blood Rev 24:123-34. 2010
    ..This review explores the genetic basis of each VWD type, relating mutations identified to disease mechanism. Additionally, utility of genetic analysis within the different disease types is explored...
  2. ncbi request reprint The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development
    Anne C Goodeve
    Academic Unit of Haematology, Division of Genomic Medicine, Royal Hallamshire Hospital, Sheffield, United Kingdom
    Semin Thromb Hemost 29:23-30. 2003
    ..This article thus highlights both the molecular basis of hemophilia and some of the additional information that can be gained from determination of the mutation responsible for hemophilia in affected patients...
  3. ncbi request reprint The incidence of inhibitor development according to specific mutations--and treatment?
    Anne Goodeve
    Academic Unit of Haematology, Division of Genomic Medicine, Royal Hallamshire Hospital, Sheffield, South Yorkshire, UK
    Blood Coagul Fibrinolysis 14:S17-21. 2003
    ..These results may enable patients at higher risk of inhibitor formation to be identified. This may have consequences for the design of clinical trials and treatment options available to high-risk patients...
  4. ncbi request reprint A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor
    A C Goodeve
    Division of Genomic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Thromb Haemost 85:929-31. 2001
    ..To avoid confusion with previously used numbering schemes for mature VWF, which started from serine 764 of pre-pro VWF, the use of the single letter amino acid code is recommended...
  5. ncbi request reprint Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
    Anne Goodeve
    The Academic Unit of Haematology, University of Sheffield, United Kingdom
    Blood 109:112-21. 2007
    ..About one third of the type 1 VWD cases recruited could be reconsidered as type 2. The remaining group could be considered "true" type 1 VWD, although mutations were found in only 55%...
  6. ncbi request reprint Genetics of type 1 von Willebrand disease
    Anne Goodeve
    Academic Unit of Haematology, University of Sheffield, Sheffield, UK
    Curr Opin Hematol 14:444-9. 2007
    ..Type 1 von Willebrand disease (VWD) is the most common form of VWD, but has remained [corrected] the least well understood. Recent work is changing this situation. This review summarizes recent analysis of the genetic basis of the disease...
  7. doi request reprint Molecular genetic testing of hemophilia A
    Anne Goodeve
    Sheffield Molecular Genetics Service, Sheffield Children s NHS Foundation Trust, Sheffield, UK
    Semin Thromb Hemost 34:491-501. 2008
    ..Guidelines on undertaking and reporting the testing plus external quality assessment are now available to help ensure that genetic analysis yields accurate and well-interpreted results...
  8. doi request reprint Haemophilia A and von Willebrand's disease
    A C Goodeve
    Department of Cardiovascular Science, University of Sheffield, Sheffield, UK
    Haemophilia 16:79-84. 2010
    ..Understanding potential confounding factors including heparin and residual FVIII in test plasma, plus optimal standardization can reduce assay coefficient of variation to 10-20%.These areas are all explored within this article...
  9. doi request reprint Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study
    Martina E Daly
    Academic Unit of Haematology, School of Medicine and Biomedical Sciences, University of Sheffield, Sheffield, United Kingdom
    Blood 113:4110-3. 2009
    ..Our results provide further evidence for locus heterogeneity in type 1 VWD...
  10. ncbi request reprint Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias
    Rory S Care
    Academic Unit of Haematology, Division of Genomic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Br J Haematol 121:775-7. 2003
    ..6%) with t(8;21) AML. All mutations were mutually exclusive; 40% of inv(16) AML patients possessed either a c-KIT or FLT3 mutation. c-KIT exon 8 mutations were shown to be a significant factor adversely affecting relapse rate...
  11. doi request reprint The international society on thrombosis and haematosis von Willebrand disease database: an update
    Daniel J Hampshire
    Haemostasis Research Group, Department of Cardiovascular Science, University of Sheffield, Sheffield, United Kingdom
    Semin Thromb Hemost 37:470-9. 2011
    ....
  12. ncbi request reprint Mutational analysis of class III receptor tyrosine kinases (C-KIT, C-FMS, FLT3) in idiopathic myelofibrosis
    Faisel M Abu-Duhier
    Academic Unit of Haematology, Division of Genomic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Br J Haematol 120:464-70. 2003
    ..Therefore, in contrast to acute myeloid leukaemia, mutations in RTKs class III do not appear to play a significant pathogenetic role in idiopathic myelofibrosis...
  13. doi request reprint Tribbles-1 and -2 are tumour suppressors, down-regulated in human acute myeloid leukaemia
    Daniel C Gilby
    Department of Cardiovascular Science, University of Sheffield, Sheffield, United Kingdom
    Immunol Lett 130:115-24. 2010
    ..This may lead to enhanced cell survival, and therefore contribute to pathogenesis of the disease. Trb-1/trb-2 may, therefore, represent useful therapeutic targets for the treatment of AML in patients with dys-regulated trb activity...
  14. ncbi request reprint Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis
    I J Williams
    Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Thromb Haemost 79:723-6. 1998
    ..Conformation sensitive gel electrophoresis was found to be technically simple and efficient at locating previously unknown FVIII gene mutations...
  15. ncbi request reprint Advances in carrier detection in haemophilia
    A C Goodeve
    Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Haemophilia 4:358-64. 1998
    ..For families remaining uninformative by these procedures, a range of point mutation screening techniques is available. Dedicated electrophoresis equipment is enabling use of these techniques to become more widespread...
  16. ncbi request reprint A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations
    I M Nesbitt
    Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Thromb Haemost 82:1061-4. 1999
    ..These two individuals therefore have compound heterozygous VWD in which the only expressed allele has a type 2N mutation. In our population, such compound heterozygosity appears to be a significant cause of type 2N VWD...
  17. ncbi request reprint Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor
    S Allen
    Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, University of Sheffield, United Kingdom
    Blood 95:2000-7. 2000
    ..Blood. 2000;95:2000-2007)..
  18. ncbi request reprint A rapid and cost effective method for analysis of dinucleotide repeat polymorphisms in the factor VIII gene
    A C Goodeve
    Department of Medicine and Pharmacology, Royal Hallamshire Hospital, Sheffield, UK
    Blood Coagul Fibrinolysis 7:672-7. 1996
    ..These alterations to the analysis enhance the universal applicability of these polymorphisms, as was demonstrated by a comparative study in Caucasian and Thai females...
  19. ncbi request reprint A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion
    S Allen
    Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, University of Sheffield, UK
    Blood 96:560-8. 2000
    ..The R273W mutation did not affect the ability of VWF to bind to BiP, Grp94, ERp72, calnexin, and calreticulin in COS-7 cells. (Blood. 2000;96:560-568)..
  20. ncbi request reprint Endoplasmic reticulum retention and prolonged association of a von Willebrand's disease-causing von Willebrand factor variant with ERp57 and calnexin
    S Allen
    Division of Clinical Sciences, Royal Hallamshire Hospital, University of Sheffield, United Kingdom
    Biochem Biophys Res Commun 280:448-53. 2001
    ..In contrast there was no apparent difference between rVWFR273W and wild-type rVWF in their time-courses of interaction with calreticulin...
  21. ncbi request reprint Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease-causing variants of von Willebrand factor
    Gregoire Michaux
    Medical Research Council, Laboratory for Molecular Cell Biology, University College London, United Kingdom
    Blood 102:2452-8. 2003
    ..Studies of pseudo-WPB formation in this system thus yield insights into the structure-function relationships underpinning the ability of VWF to form functional WPBs...
  22. ncbi request reprint c-FMS mutational analysis in acute myeloid leukaemia
    Faisel M Abu-Duhier
    Br J Haematol 123:749-50. 2003
  23. ncbi request reprint Conformation-sensitive gel electrophoresis
    Ian J Williams
    Department of Haematology, Birmingham Children s Hospital NHS Trust, Birmingham, UK
    Methods Mol Biol 187:137-50. 2002
  24. ncbi request reprint FLT3 internal tandem duplication mutations are rare in agnogenic myeloid metaplasia
    Faisal M Abu-Duhier
    Blood 100:364. 2002
  25. doi request reprint Methylation of the suppressor of cytokine signaling 3 gene (SOCS3) in myeloproliferative disorders
    Nasios Fourouclas
    Haemato oncology, Diagnostic Service, Department, of Haematology, Addenbrooke s, Hospital, Hills Road, Cambridge, CB2 0QQ, UK
    Haematologica 93:1635-44. 2008
    ....