Nicholas James Beauchamp

Summary

Affiliation: University of Sheffield
Country: UK

Publications

  1. ncbi A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort
    N J Beauchamp
    Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Thromb Haemost 79:1086-91. 1998
  2. ncbi The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population
    Nicholas J Beauchamp
    Division of Genomic Medicine, University of Sheffield, Royal Hallamshire Hospital, Sheffield, UK
    Br J Haematol 125:647-54. 2004
  3. ncbi Glycogen storage disease type IX: High variability in clinical phenotype
    Nicholas James Beauchamp
    Academic Unit of Child Health, University of Sheffield, Stephenson Wing, Sheffield Children s NHS Foundation Trust, Western Bank, Sheffield S10 2TH, and Department of Paediatrics, Addenbrook s Hospital, Cambridge, UK
    Mol Genet Metab 92:88-99. 2007
  4. ncbi High frequency of missense mutations in glycogen storage disease type VI
    N J Beauchamp
    Academic Unit of Child Health, University of Sheffield, Stephenson Wing, Sheffield Children s NHS Trust, Western Bank, Sheffield, S10 2TH, UK
    J Inherit Metab Dis 30:722-34. 2007

Detail Information

Publications4

  1. ncbi A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort
    N J Beauchamp
    Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Thromb Haemost 79:1086-91. 1998
    ..Six of the fourteen relatives with the mutation experienced at least one venous thrombotic event strongly supporting the association of the mutation with venous thrombosis...
  2. ncbi The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population
    Nicholas J Beauchamp
    Division of Genomic Medicine, University of Sheffield, Royal Hallamshire Hospital, Sheffield, UK
    Br J Haematol 125:647-54. 2004
    ..This genetic information enabled us to refine our estimate of the prevalence of heritable PS deficiency in the Scottish population to between 0.16% and 0.21%, predominantly resulting from the presence of the Heerlen allele...
  3. ncbi Glycogen storage disease type IX: High variability in clinical phenotype
    Nicholas James Beauchamp
    Academic Unit of Child Health, University of Sheffield, Stephenson Wing, Sheffield Children s NHS Foundation Trust, Western Bank, Sheffield S10 2TH, and Department of Paediatrics, Addenbrook s Hospital, Cambridge, UK
    Mol Genet Metab 92:88-99. 2007
    ..Molecular analysis allows accurate diagnosis where enzymology is uninformative and identifies the pattern of inheritance permitting counselling and family studies...
  4. ncbi High frequency of missense mutations in glycogen storage disease type VI
    N J Beauchamp
    Academic Unit of Child Health, University of Sheffield, Stephenson Wing, Sheffield Children s NHS Trust, Western Bank, Sheffield, S10 2TH, UK
    J Inherit Metab Dis 30:722-34. 2007
    ..We conclude that deficiency of liver glycogen phosphorylase is predominantly the result of missense mutations affecting enzyme activity. There are no common mutations and the severity of clinical symptoms varies significantly...