Peter S Harper
Affiliation: Cardiff University
- Recorded interviews with human and medical geneticistsPeter S Harper
Cardiff University, Cardiff, UK
Hum Genet . 2016..While this series has made a start in the oral history of this important field, extension and further development of the work is urgently needed to give a fuller picture of how human genetics has developed...
- Mary Lyon and the hypothesis of random X chromosome inactivationPeter S Harper
Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK
Hum Genet 130:169-74. 2011....
- Paul Polani and the development of medical geneticsPeter S Harper
Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK
Hum Genet 120:723-31. 2007....
- The discovery of the human chromosome number in Lund, 1955-1956Peter S Harper
Institute of Medical Genetics, Cardiff University, Heath Park, CF14 4XN Cardiff, UK
Hum Genet 119:226-32. 2006....
- William Bateson, human genetics and medicinePeter S Harper
Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
Hum Genet 118:141-51. 2005....
- Julia Bell and the Treasury of Human InheritancePeter S Harper
Institute of Medical Genetics, Cardiff University, Cardiff, UK
Hum Genet 116:422-32. 2005....
- 99th ENMC international workshop: myotonic dystrophy: present management, future therapy. 9-11 November 2001, Naarden, The NetherlandsP S Harper
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
Neuromuscul Disord 12:596-9. 2002
- Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction ConsortiumP 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...
- Absence of hearing impairment in adult onset facioscapulohumeral muscular dystrophyMark 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...
- 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 effectLinda 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...
- Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cellsMajid 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...