Peter S Harper

Summary

Affiliation: Cardiff University
Country: UK

Publications

  1. pmc Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium
    P S Harper
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    J Med Genet 37:567-71. 2000
  2. pmc Paul Polani and the development of medical genetics
    Peter S Harper
    Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK
    Hum Genet 120:723-31. 2007
  3. ncbi request reprint The discovery of the human chromosome number in Lund, 1955-1956
    Peter S Harper
    Institute of Medical Genetics, Cardiff University, Heath Park, CF14 4XN Cardiff, UK
    Hum Genet 119:226-32. 2006
  4. ncbi request reprint William Bateson, human genetics and medicine
    Peter S Harper
    Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
    Hum Genet 118:141-51. 2005
  5. ncbi request reprint Julia Bell and the Treasury of Human Inheritance
    Peter S Harper
    Institute of Medical Genetics, Cardiff University, Cardiff, UK
    Hum Genet 116:422-32. 2005
  6. ncbi request reprint 99th ENMC international workshop: myotonic dystrophy: present management, future therapy. 9-11 November 2001, Naarden, The Netherlands
    P S Harper
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Neuromuscul Disord 12:596-9. 2002
  7. doi request reprint Mary Lyon and the hypothesis of random X chromosome inactivation
    Peter S Harper
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK
    Hum Genet 130:169-74. 2011
  8. ncbi request reprint Absence of hearing impairment in adult onset facioscapulohumeral muscular dystrophy
    Mark T Rogers
    Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF4 4XN, UK
    Neuromuscul Disord 12:358-65. 2002
  9. pmc Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect
    Linda L Bachinski
    Section of Cancer Genetics, Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Am J Hum Genet 73:835-48. 2003
  10. ncbi request reprint Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
    Majid Fardaei
    Institute of Genetics, University of Nottingham, Queen s Medical Centre, Nottingham NG7 2UH, UK
    Hum Mol Genet 11:805-14. 2002

Collaborators

  • Dafydd Stephens
  • Mark T Rogers
  • Fei Zhao
  • M D Shriver
  • Giovanni Meola
  • Linda L Bachinski
  • Majid Fardaei
  • Armand Bottani
  • Shanxiang Zhang
  • Thomas Wieser
  • Ralf Krahe
  • Bruno Eymard
  • Josep Gamez
  • Bjarne Udd
  • Guillaume Bassez
  • Richard T Moxley
  • Riitta Sallinen
  • Carmen Navarro
  • Fred A Wright
  • Andre Kohler
  • Charles A Thornton
  • Frank Lehmann-Horn
  • Maija Wessman
  • Karin Jurkat-Rott
  • Valeria Sansone
  • Helena M Thorpe
  • Kenneth Larkin
  • Marion G Hamshere
  • J David Brook

Detail Information

Publications10

  1. pmc Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium
    P S Harper
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    J Med Genet 37:567-71. 2000
    ..A comparable approach to data collection in other genetic disorders will be important as presymptomatic testing becomes more generally feasible...
  2. pmc Paul Polani and the development of medical genetics
    Peter S Harper
    Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK
    Hum Genet 120:723-31. 2007
    ....
  3. ncbi request reprint The discovery of the human chromosome number in Lund, 1955-1956
    Peter S Harper
    Institute of Medical Genetics, Cardiff University, Heath Park, CF14 4XN Cardiff, UK
    Hum Genet 119:226-32. 2006
    ....
  4. ncbi request reprint William Bateson, human genetics and medicine
    Peter S Harper
    Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
    Hum Genet 118:141-51. 2005
    ....
  5. ncbi request reprint Julia Bell and the Treasury of Human Inheritance
    Peter S Harper
    Institute of Medical Genetics, Cardiff University, Cardiff, UK
    Hum Genet 116:422-32. 2005
    ....
  6. ncbi request reprint 99th ENMC international workshop: myotonic dystrophy: present management, future therapy. 9-11 November 2001, Naarden, The Netherlands
    P S Harper
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Neuromuscul Disord 12:596-9. 2002
  7. doi request reprint Mary Lyon and the hypothesis of random X chromosome inactivation
    Peter S Harper
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK
    Hum Genet 130:169-74. 2011
    ....
  8. ncbi request reprint Absence of hearing impairment in adult onset facioscapulohumeral muscular dystrophy
    Mark T Rogers
    Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF4 4XN, UK
    Neuromuscul Disord 12:358-65. 2002
    ..We conclude that hearing impairment is not more common in adult onset facioscapulohumeral muscular dystrophy, and according to this data, may even, be less prevalent than in the normal population...
  9. pmc Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect
    Linda L Bachinski
    Section of Cancer Genetics, Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Am J Hum Genet 73:835-48. 2003
    ..Taken together, these data suggest a single founding mutation in DM2 patients of European origin. We estimate the age of the founding haplotype and of the DM2 (CCTG) expansion mutation to be approximately 200-540 generations...
  10. ncbi request reprint Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
    Majid Fardaei
    Institute of Genetics, University of Nottingham, Queen s Medical Centre, Nottingham NG7 2UH, UK
    Hum Mol Genet 11:805-14. 2002
    ..Green fluorescent protein-tagged versions of MBNL, MBLL and MBXL co-localize with nuclear foci in DM1 and DM2 cells, suggesting that all three proteins may play a role in DM pathophysiology...