E Sweeney

Summary

Affiliation: Christie Hospital
Country: UK

Publications

  1. pmc Nail patella syndrome: a review of the phenotype aided by developmental biology
    E Sweeney
    Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK
    J Med Genet 40:153-62. 2003
  2. ncbi request reprint Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype
    E Sweeney
    Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children s Hospital, UK
    Clin Dysmorphol 9:177-82. 2000
  3. doi request reprint A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome
    R Day
    Cheshire and Merseyside Genetics Service, Royal Liverpool Children s Hospital, Alder Hey, Liverpool, UK
    Clin Genet 74:434-44. 2008
  4. pmc Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation
    F Zhao
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, 10029, USA
    Am J Hum Genet 69:695-703. 2001
  5. ncbi request reprint Nail patella syndrome revisited: 50 years after linkage
    I McIntosh
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N Broadway BRB 407, Baltimore, MD 21205, USA
    Ann Hum Genet 69:349-63. 2005

Collaborators

Detail Information

Publications5

  1. pmc Nail patella syndrome: a review of the phenotype aided by developmental biology
    E Sweeney
    Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK
    J Med Genet 40:153-62. 2003
    ..NPS is caused by loss of function mutations in the transcription factor LMX1B at 9q34. The expansion of the clinical phenotype is supported by the role of LMX1B during development...
  2. ncbi request reprint Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype
    E Sweeney
    Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children s Hospital, UK
    Clin Dysmorphol 9:177-82. 2000
    ..We review the features of previously reported patients and emphasise the variability in the phenotype of Char syndrome...
  3. doi request reprint A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome
    R Day
    Cheshire and Merseyside Genetics Service, Royal Liverpool Children s Hospital, Alder Hey, Liverpool, UK
    Clin Genet 74:434-44. 2008
    ..It remains possible that this rare condition is heterogeneous and therefore caution must be undertaken during counselling until the underlying genetic mechanism(s) is (are) identified...
  4. pmc Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation
    F Zhao
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, 10029, USA
    Am J Hum Genet 69:695-703. 2001
    ..This genotype-phenotype correlation supports the existence of TFAP2 coactivators that have tissue specificity and are important for ductal development but less critical for craniofacial and limb development...
  5. ncbi request reprint Nail patella syndrome revisited: 50 years after linkage
    I McIntosh
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N Broadway BRB 407, Baltimore, MD 21205, USA
    Ann Hum Genet 69:349-63. 2005
    ....