R J Gibbons

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. ncbi Molecular-clinical spectrum of the ATR-X syndrome
    R J Gibbons
    Nuffield Department of Clinical Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK
    Am J Med Genet 97:204-12. 2000
  2. ncbi Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation
    R J Gibbons
    Nuffield Department of Clinical Laboratory Sciences, University of Oxford, UK
    Nat Genet 24:368-71. 2000
  3. ncbi ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome
    D J Picketts
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Hum Mol Genet 5:1899-907. 1996
  4. ncbi Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains
    D J Picketts
    MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, UK
    Mamm Genome 9:400-3. 1998
  5. ncbi Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects
    S W Horsley
    MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    Eur J Hum Genet 9:217-25. 2001
  6. ncbi Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy
    V Viprakasit
    MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    Hum Mol Genet 10:2797-802. 2001

Collaborators

Detail Information

Publications6

  1. ncbi Molecular-clinical spectrum of the ATR-X syndrome
    R J Gibbons
    Nuffield Department of Clinical Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK
    Am J Med Genet 97:204-12. 2000
    ..An attempt is made in this article to review the clinical spectrum associated with ATRX mutations and to analyse the evidence for any genotype/phenotype correlation...
  2. ncbi Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation
    R J Gibbons
    Nuffield Department of Clinical Laboratory Sciences, University of Oxford, UK
    Nat Genet 24:368-71. 2000
    ..Our findings provide a potential link between the processes of chromatin remodelling, DNA methylation and gene expression in mammalian development...
  3. ncbi ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome
    D J Picketts
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Hum Mol Genet 5:1899-907. 1996
    ..Correlation between these and previously identified mutations with variations in the ATR-X phenotype provides insights into the pathophysiology of this disease and the normal role of the ATRX protein in vivo...
  4. ncbi Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains
    D J Picketts
    MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, UK
    Mamm Genome 9:400-3. 1998
  5. ncbi Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects
    S W Horsley
    MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    Eur J Hum Genet 9:217-25. 2001
    ..These findings contrast with previous observations on patients with larger (> 1 Mb) deletions from the 16p telomere and therefore address the mechanisms by which monosomy gives rise to human genetic disease...
  6. ncbi Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy
    V Viprakasit
    MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    Hum Mol Genet 10:2797-802. 2001
    ..They support the hypothesis that many of the clinical features of TTD result from inadequate expression of a diverse set of highly expressed genes...