A C Goodeve

Summary

Affiliation: University of Sheffield
Country: UK

Publications

  1. ncbi 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
  2. ncbi Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate). Recombinate PUP Study Group
    A C Goodeve
    Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Thromb Haemost 83:844-8. 2000
  3. ncbi 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
  4. ncbi Identification of novel FLT-3 Asp835 mutations in adult acute myeloid leukaemia
    F M Abu-Duhier
    Molecular Haematology Unit, Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Br J Haematol 113:983-8. 2001
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi Is routine molecular screening for common alpha-thalassaemia deletions necessary as part of an antenatal screening programme?
    Y Sorour
    Haematology Department, Sheffield Teaching Hospitals, Sheffield, UK
    J Med Screen 14:60-1. 2007
  9. ncbi Aberrant methylation of the negative regulators RASSFIA, SHP-1 and SOCS-1 in myelodysplastic syndromes and acute myeloid leukaemia
    M F Johan
    Academic Unit of Haematology, Division of Genomic Medicine, Henry Wellcome Laboratories for Medical Research, Sheffield, UK
    Br J Haematol 129:60-5. 2005
  10. ncbi 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

Collaborators

Detail Information

Publications15

  1. ncbi 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...
  2. ncbi Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate). Recombinate PUP Study Group
    A C Goodeve
    Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Thromb Haemost 83:844-8. 2000
    ..The results corroborate the observation that mutation type is an important determinant of the propensity to develop inhibitory anti-FVIII antibody...
  3. ncbi 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...
  4. ncbi Identification of novel FLT-3 Asp835 mutations in adult acute myeloid leukaemia
    F M Abu-Duhier
    Molecular Haematology Unit, Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Br J Haematol 113:983-8. 2001
    ..This study reports, for the first time, point mutations in the human FLT3 gene that, because of their homology with other class III receptor tyrosine kinase mutations, probably result in constitutive activation of the receptor...
  5. ncbi 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)..
  6. ncbi 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...
  7. ncbi 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...
  8. ncbi Is routine molecular screening for common alpha-thalassaemia deletions necessary as part of an antenatal screening programme?
    Y Sorour
    Haematology Department, Sheffield Teaching Hospitals, Sheffield, UK
    J Med Screen 14:60-1. 2007
    ..Routine molecular screening for all forms of alpha-thalassaemia trait is unjustified in antenatal screening...
  9. ncbi Aberrant methylation of the negative regulators RASSFIA, SHP-1 and SOCS-1 in myelodysplastic syndromes and acute myeloid leukaemia
    M F Johan
    Academic Unit of Haematology, Division of Genomic Medicine, Henry Wellcome Laboratories for Medical Research, Sheffield, UK
    Br J Haematol 129:60-5. 2005
    ..Finally, SOCS-1 exon 2 methylation may not be pathogenetically relevant, since it was detected in samples from normal individuals and did not correlate with promotor methylation...
  10. ncbi 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...
  11. ncbi 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...
  12. ncbi FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group
    F M Abu-Duhier
    Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Br J Haematol 111:190-5. 2000
    ..0096). This study demonstrates that the FLT3 ITD mutation occurs in a significant percentage of adult AML cases and is an important adverse prognostic factor that appears independent of conventional karyotypic findings...
  13. doi 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...
  14. ncbi 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)..
  15. ncbi Gene structure, expression profiling and mutation analysis of the tumour suppressor SHIP1 in Caucasian acute myeloid leukaemia
    D C Gilby
    Leukemia 21:2390-3. 2007