A K Gedeon

Summary

Affiliation: University of Adelaide
Country: Australia

Publications

  1. pmc The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
    A K Gedeon
    Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, and University of Adelaide Department of Paediatrics, Adelaide, Australia
    Am J Hum Genet 68:1386-97. 2001
  2. ncbi request reprint Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
    A K Gedeon
    Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women s and Children s Hospital, North Adelaide, SA, Australia
    Nat Genet 22:400-4. 1999
  3. ncbi request reprint Identification of the gene FMR2, associated with FRAXE mental retardation
    J Gecz
    Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, Australia
    Nat Genet 13:105-8. 1996
  4. ncbi request reprint Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis
    A K Gedeon
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, Australia
    Am J Med Genet 52:75-8. 1994
  5. ncbi request reprint Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda
    J Gecz
    Centre for Medical Genetics, Women s and Children s Hospital, Adelaide, South Australia, 5006, Australia
    Genomics 69:242-51. 2000
  6. ncbi request reprint Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation
    A K Gedeon
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, Australia
    Am J Med Genet 64:121-4. 1996
  7. ncbi request reprint Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22
    A J Donnelly
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, Australia
    Am J Med Genet 51:581-5. 1994
  8. pmc FRAXE and mental retardation
    J C Mulley
    Centre for Medical Genetics, Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, Australia
    J Med Genet 32:162-9. 1995
  9. pmc X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome
    A K Gedeon
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, South Australia
    J Med Genet 32:383-8. 1995
  10. ncbi request reprint A novel X-linked gene, G4.5. is responsible for Barth syndrome
    S Bione
    Institute of Genetics, Biochemistry and Evolution CNR, Pavia, Italy
    Nat Genet 12:385-9. 1996

Collaborators

Detail Information

Publications12

  1. pmc The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
    A K Gedeon
    Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, and University of Adelaide Department of Paediatrics, Adelaide, Australia
    Am J Hum Genet 68:1386-97. 2001
    ..Appropriate lifestyle decisions and, eventually, perhaps, specific SEDL therapies may ameliorate the prognosis of premature osteoarthritis and the need for hip arthroplasty...
  2. ncbi request reprint Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
    A K Gedeon
    Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women s and Children s Hospital, North Adelaide, SA, Australia
    Nat Genet 22:400-4. 1999
    ..The gene designated SEDL is transcribed as a 2.8-kb transcript in many tissues including fetal cartilage. SEDL encodes a 140 amino acid protein with a putative role in endoplasmic reticulum (ER)-to-Golgi vesicular transport...
  3. ncbi request reprint Identification of the gene FMR2, associated with FRAXE mental retardation
    J Gecz
    Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, Australia
    Nat Genet 13:105-8. 1996
    ..We correlate loss of FMR2 expression with (CCG)n expansion at FRAXE, demonstrating that this is a gene associated with the CpG island adjacent to FRAXE and contributes for FRAXE-associated mild mental retardation...
  4. ncbi request reprint Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis
    A K Gedeon
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, Australia
    Am J Med Genet 52:75-8. 1994
    ..Linkage was found with several markers within this interval. Peak lod scores of 3.21 at theta = 0.0 were obtained between PDR and DXS989 and between PDR and 5'DYSI within the dystrophin locus...
  5. ncbi request reprint Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda
    J Gecz
    Centre for Medical Genetics, Women s and Children s Hospital, Adelaide, South Australia, 5006, Australia
    Genomics 69:242-51. 2000
    ..Based on these experiments we suggest that the COOH end of the SEDL protein might be responsible for proper targeting of SEDL along the ER-Golgi membrane compartments (including Golgi and ERGIC/VTC)...
  6. ncbi request reprint Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation
    A K Gedeon
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, Australia
    Am J Med Genet 64:121-4. 1996
    ..This regional localisation spans 26.2 cM on the genetic background map and defines another distinct MRX interval by linkage to a specific region of the X chromosome...
  7. ncbi request reprint Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22
    A J Donnelly
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, Australia
    Am J Med Genet 51:581-5. 1994
    ..There is a possibility that the 3 MRX disorders are the same entity. Most MRX disorders remain clustered around the pericentromeric region...
  8. pmc FRAXE and mental retardation
    J C Mulley
    Centre for Medical Genetics, Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, Australia
    J Med Genet 32:162-9. 1995
    ....
  9. pmc X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome
    A K Gedeon
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, South Australia
    J Med Genet 32:383-8. 1995
    ..This localisation is consistent with a hypothesis of allelic and clinical heterogeneity at the BTHS locus in Xq28...
  10. ncbi request reprint A novel X-linked gene, G4.5. is responsible for Barth syndrome
    S Bione
    Institute of Genetics, Biochemistry and Evolution CNR, Pavia, Italy
    Nat Genet 12:385-9. 1996
    ..The mutations introduce stop codons in the open reading frame interrupting translation of most of the putative proteins (which we term 'tafazzins'). Our results suggest that G4.5 is the genetic locus responsible for the Barth syndrome...
  11. ncbi request reprint Mutations in GDI1 are responsible for X-linked non-specific mental retardation
    P d'Adamo
    Institute of Genetics Biochemistry and Evolution, CNR, Pavia, Italy
    Nat Genet 19:134-9. 1998
    ....
  12. ncbi request reprint Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)
    G R Sutherland
    Cytogenetics Unit, Adelaide Children s Hospital, Australia
    Am J Med Genet 30:493-508. 1988
    ..The maximum lod score was 2.10 at theta = 0.11 for DXYS1, assuming the possibly affected male carried the MRX2 gene. There were lower lod scores suggestive of linkage with DXS7 (theta = 0.14; z = 1.29) and DXS94 (theta = 0.11; z = 1.22)...