Lorne Lonie

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. ncbi request reprint Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
    Emmanuelle Bitoun
    Wellcome Trust Center for Human Genetics, Oxford, UK
    J Invest Dermatol 118:352-61. 2002
  2. ncbi request reprint Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases
    Lorne Lonie
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Hum Mutat 27:1160. 2006

Collaborators

  • Jiannis Ragoussis
  • E Morava
  • A P Monaco
  • Emmanuelle Bitoun
  • Christine Bodemer
  • Mauro Paradisi
  • Shin Ichi Ansai
  • Dominique Hamel-Teillac
  • St├ęphane Chavanas
  • Giovanna Zambruno
  • Yves De Prost
  • Alain Taieb
  • Alain Hovnanian
  • Alan D Irvine
  • John I Harper
  • Yoshihiko Mitsuhashi

Detail Information

Publications2

  1. ncbi request reprint Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
    Emmanuelle Bitoun
    Wellcome Trust Center for Human Genetics, Oxford, UK
    J Invest Dermatol 118:352-61. 2002
    ..Interfamilial and intrafamilial variation in disease severity was observed, with no clear correlation between mutations and phenotype, suggesting that the degree of severity may be affected by other factors...
  2. ncbi request reprint Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases
    Lorne Lonie
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Hum Mutat 27:1160. 2006
    ..This technique was found to be sensitive with a detection rate of 100% regarding heterozygote detection for EXT mutation scanning. Furthermore, this technique has a very high throughput and is very cost-effective...