Peter D Turnpenny

Summary

Affiliation: Royal Devon and Exeter NHS Foundation Trust
Country: UK

Publications

  1. Turnpenny P, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2012;20:251-7 pubmed publisher
    ..This review discusses the clinical features of ALGS, including long-term complications, the clinical and molecular diagnosis, and management...
  2. Turnpenny P, Alman B, Cornier A, Giampietro P, Offiah A, Tassy O, et al. Abnormal vertebral segmentation and the notch signaling pathway in man. Dev Dyn. 2007;236:1456-74 pubmed
    ..Here, we deal mainly with SCD and AGS, and present a new classification system for AVS phenotypes, for which, hitherto, the terminology has been inconsistent and confusing...
  3. Turnpenny P. Defective somitogenesis and abnormal vertebral segmentation in man. Adv Exp Med Biol. 2008;638:164-89 pubmed
    ..Significant future challenges lie in identifying causes of the many abnormal segmentation phenotypes in man but it is hoped that combined approaches in collaboration with developmental biologists will reap rewards...

Detail Information

Publications3

  1. Turnpenny P, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2012;20:251-7 pubmed publisher
    ..This review discusses the clinical features of ALGS, including long-term complications, the clinical and molecular diagnosis, and management...
  2. Turnpenny P, Alman B, Cornier A, Giampietro P, Offiah A, Tassy O, et al. Abnormal vertebral segmentation and the notch signaling pathway in man. Dev Dyn. 2007;236:1456-74 pubmed
    ..Here, we deal mainly with SCD and AGS, and present a new classification system for AVS phenotypes, for which, hitherto, the terminology has been inconsistent and confusing...
  3. Turnpenny P. Defective somitogenesis and abnormal vertebral segmentation in man. Adv Exp Med Biol. 2008;638:164-89 pubmed
    ..Significant future challenges lie in identifying causes of the many abnormal segmentation phenotypes in man but it is hoped that combined approaches in collaboration with developmental biologists will reap rewards...