D R Mowat

Summary

Affiliation: University of New South Wales
Country: Australia

Publications

  1. ncbi Duplication within chromosome 5q characterized by fluorescence in situ hybridization
    D Mowat
    Department of Clinical Genetics, Sydney Children s Hospital, NSW, Australia
    Am J Med Genet 83:361-4. 1999
  2. ncbi Ethical, legal and social issues surrounding the human genome project
    D Mowat
    The Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia
    Intern Med J 32:89-90. 2002
  3. ncbi Mowat-Wilson syndrome
    D R Mowat
    Department of Medical Genetics, The Sydney Children s Hospital, University of New South Wales, Sydney, NSW 2031, Australia
    J Med Genet 40:305-10. 2003
  4. ncbi Kousseff syndrome: a causally heterogeneous disorder
    K Maclean
    Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia
    Am J Med Genet A 124:307-12. 2004

Collaborators

  • A Smith
  • K Maclean
  • E P E Kirk
  • S L Dunwoodie
  • A S Colley
  • D B Sparrow
  • M J Field

Detail Information

Publications4

  1. ncbi Duplication within chromosome 5q characterized by fluorescence in situ hybridization
    D Mowat
    Department of Clinical Genetics, Sydney Children s Hospital, NSW, Australia
    Am J Med Genet 83:361-4. 1999
    ..The boy we describe here is the first case of a pure partial duplication of 5q to be proven by FISH techniques. A review of previously reported cases of putative partial 5q duplication showed no consistent phenotype...
  2. ncbi Ethical, legal and social issues surrounding the human genome project
    D Mowat
    The Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia
    Intern Med J 32:89-90. 2002
  3. ncbi Mowat-Wilson syndrome
    D R Mowat
    Department of Medical Genetics, The Sydney Children s Hospital, University of New South Wales, Sydney, NSW 2031, Australia
    J Med Genet 40:305-10. 2003
    ..The syndrome is the result of heterozygous deletions or truncating mutations of the ZFHX1B (SIP1) gene on chromosome 2q22...
  4. ncbi Kousseff syndrome: a causally heterogeneous disorder
    K Maclean
    Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia
    Am J Med Genet A 124:307-12. 2004
    ..Sequencing of the entire coding region of CITED2 did not reveal a mutation. The second case, a male infant, was found to have a 22q11.2-microdeletion. These cases confirm Kousseff syndrome to be a causally heterogeneous disorder...