K M Lower
Affiliation: University of Adelaide
- 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 MRX27K 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...
- Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancerS 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...
- Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patientJ 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...
- Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancerS 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...
- Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndromeA Baumstark
Abt Humangenetik, Universitat Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
J Med Genet 40:e50. 2003
- The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutationsG 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...