A-E Lehesjoki

Summary

Affiliation: Christie Hospital
Country: UK

Publications

  1. pmc The ophthalmic findings in Cohen syndrome
    K E Chandler
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Br J Ophthalmol 86:1395-8. 2002
  2. pmc Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
    K E Chandler
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    J Med Genet 40:233-41. 2003
  3. pmc Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy
    M Savander
    Department of Medical Genetics and Folkhälsan Institute of Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Gut 52:1025-9. 2003
  4. ncbi request reprint Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin
    E Siintola
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Finland
    Clin Genet 68:167-73. 2005
  5. pmc POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
    C Diesen
    J Med Genet 41:e115. 2004

Collaborators

  • L Al-Gazali
  • K E Chandler
  • E Siintola
  • T Joensuu
  • C Diesen
  • B Cormand
  • M Savander
  • G C M Black
  • J Clayton-Smith
  • A Kohlschutter
  • T Salonen
  • M Topcu
  • A K Anttonen
  • A Saarinen
  • L Valanne
  • H Pihko
  • W B Dobyns
  • C Rosenlew
  • J Dieguez
  • K Avela
  • A Kidd
  • M L Hirvioja
  • C Williamson
  • N Weerasekera
  • K Aittomaki
  • A Ropponen
  • O Ylikorkala
  • J Kolehmainen
  • S Riikonen
  • N Parry
  • I C Lloyd
  • S Biswas

Detail Information

Publications5

  1. pmc The ophthalmic findings in Cohen syndrome
    K E Chandler
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Br J Ophthalmol 86:1395-8. 2002
    ..This study aimed to identify patients with Cohen syndrome from across the United Kingdom in order to define the variability of ophthalmic manifestations...
  2. pmc Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
    K E Chandler
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    J Med Genet 40:233-41. 2003
    ..Results from molecular genetic analysis using markers located within the previously mapped COH1 critical region support allelic but not genetic heterogeneity in this UK cohort...
  3. pmc Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy
    M Savander
    Department of Medical Genetics and Folkhälsan Institute of Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Gut 52:1025-9. 2003
    ..The aim of this study was to investigate the genetic aetiology of intrahepatic cholestasis of pregnancy (ICP) and the impact of known cholestasis genes (BSEP, FIC1, and MDR3) on the development of this disease...
  4. ncbi request reprint Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin
    E Siintola
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Finland
    Clin Genet 68:167-73. 2005
    ..These data indicate that CLN6 mutations, in addition to those of CLN8, should be considered a diagnostic alternative in Turkish vLINCL patients. The genetic background of the 'true' Turkish vLINCL, CLN7, remains to be defined...
  5. pmc POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
    C Diesen
    J Med Genet 41:e115. 2004