Deborah J Shears

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi request reprint Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation
    Deborah J Shears
    Department of Clinical and Molecular Genetics, Institute of Child Health, London, UK
    Am J Med Genet 110:153-7. 2002
  2. ncbi request reprint Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
    Stephen P Robertson
    Weatherall Institute of Molecular Medicine, Room 304, The John Radcliffe, Headley Way, Oxford OX3 9DS, UK
    Nat Genet 33:487-91. 2003
  3. ncbi request reprint Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma
    Deborah J Shears
    Br J Haematol 121:377-9. 2003
  4. ncbi request reprint Kantaputra mesomelic dysplasia: a second reported family
    Deborah J Shears
    Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 3EH, United Kingdom
    Am J Med Genet A 128:6-11. 2004
  5. ncbi request reprint Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin, New Zealand
    Am J Med Genet A 140:1726-36. 2006

Detail Information

Publications5

  1. ncbi request reprint Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation
    Deborah J Shears
    Department of Clinical and Molecular Genetics, Institute of Child Health, London, UK
    Am J Med Genet 110:153-7. 2002
    ..In addition, the mutation may disrupt a nuclear localization signal in SHOX. This is the first SHOX point mutation identified in a case of LMD, and the first case in which parent to child transmission of LMD has been described...
  2. ncbi request reprint Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
    Stephen P Robertson
    Weatherall Institute of Molecular Medicine, Room 304, The John Radcliffe, Headley Way, Oxford OX3 9DS, UK
    Nat Genet 33:487-91. 2003
    ....
  3. ncbi request reprint Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma
    Deborah J Shears
    Br J Haematol 121:377-9. 2003
  4. ncbi request reprint Kantaputra mesomelic dysplasia: a second reported family
    Deborah J Shears
    Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 3EH, United Kingdom
    Am J Med Genet A 128:6-11. 2004
    ..This is only the second reported family affected with Kantaputra mesomelic dysplasia (MIM 156232), a distinct mesomelic skeletal dysplasia...
  5. ncbi request reprint Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin, New Zealand
    Am J Med Genet A 140:1726-36. 2006
    ..This observation suggests that locus heterogeneity may exist for this disorder...