K M Lower

Summary

Affiliation: University of Adelaide
Country: Australia

Publications

  1. ncbi request reprint Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27
    K M Lower
    Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, Australia
    Am J Med Genet 100:43-8. 2001
  2. ncbi request reprint Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer
    S A Whitmore
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, South Australia, 5006, Australia
    Genomics 50:1-8. 1998
  3. pmc Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
    J Crawford
    Department of Genetic Medicine, Women s and Children s Hospital, University of Adelaide, Adelaide, Australia
    J Med Genet 43:238-43. 2006
  4. ncbi request reprint Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer
    S A Whitmore
    Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, South Australia, 5006, Australia
    Genomics 52:325-31. 1998
  5. pmc Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome
    A Baumstark
    Abt Humangenetik, Universitat Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    J Med Genet 40:e50. 2003
  6. ncbi request reprint The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations
    G Turner
    Hunter Genetics and University of Newcastle, New South Wales, Australia
    Clin Genet 65:226-32. 2004

Collaborators

Detail Information

Publications6

  1. ncbi request reprint Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27
    K M Lower
    Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, Australia
    Am J Med Genet 100:43-8. 2001
    ..No mutations were found in two BFLS families or MRX27. Although ARHGEF6 is unlikely to be the gene responsible for either BFLS or MRX27, it remains a prime candidate for nonspecific or syndromic mental retardation linked to Xq26...
  2. ncbi request reprint Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer
    S A Whitmore
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, South Australia, 5006, Australia
    Genomics 50:1-8. 1998
    ..This contig and expressed sequence map will form the basis for the identification of the breast cancer tumor suppressor gene in this region...
  3. pmc Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
    J Crawford
    Department of Genetic Medicine, Women s and Children s Hospital, University of Adelaide, Adelaide, Australia
    J Med Genet 43:238-43. 2006
    ..Börjeson-Forssman-Lehmann syndrome (BFLS; MIM 301900) is an infrequently described X linked disorder caused by mutations in PHF6, a novel zinc finger gene of unknown function...
  4. ncbi request reprint Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer
    S A Whitmore
    Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, South Australia, 5006, Australia
    Genomics 52:325-31. 1998
    ..These genes were examined for mutations in breast tumor DNA, and both were excluded as tumor suppressor genes involved in breast cancer...
  5. pmc Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome
    A Baumstark
    Abt Humangenetik, Universitat Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    J Med Genet 40:e50. 2003
  6. ncbi request reprint The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations
    G Turner
    Hunter Genetics and University of Newcastle, New South Wales, Australia
    Clin Genet 65:226-32. 2004
    ..Twenty percent have significant learning problems, and 95% have skewed X inactivation. We conclude that this syndrome may be underdiagnosed in males in their early years and missed altogether in isolated heterozygous females...