Deborah J Shears

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi 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 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 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 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 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 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 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 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 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 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...