Michelle J Rugless

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. ncbi request reprint Hb Bart's in cord blood: an accurate indicator of alpha-thalassemia
    Michelle J Rugless
    Medical Research Council MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Hemoglobin 30:57-62. 2006
  2. doi request reprint Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations
    Shirley J Henderson
    a National Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
    Hemoglobin 40:75-84. 2016
  3. doi request reprint Prenatal diagnosis of hemoglobinopathies by pyrosequencing: a more sensitive and rapid approach to fetal genotyping
    Adele T Timbs
    National Haemoglobinopathy Reference Laboratory, Molecular Haematology, John Radcliffe Hospital, Oxford, UK
    Hemoglobin 36:144-50. 2012
  4. doi request reprint A large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype
    Michelle J Rugless
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Hum Mol Genet 17:3084-93. 2008

Collaborators

  • Douglas R Higgs
  • Shirley J Henderson
  • Adele T Timbs
  • John M Old
  • Alice E Gallienne
  • Melanie Proven
  • Janice McCarthy
  • Mohamed S M Khalil
  • Herminio Lopez
  • Jennifer Eglinton
  • Matthew Beardsall
  • Dariusz Dziedzic
  • Anna M Haywood

Detail Information

Publications4

  1. ncbi request reprint Hb Bart's in cord blood: an accurate indicator of alpha-thalassemia
    Michelle J Rugless
    Medical Research Council MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Hemoglobin 30:57-62. 2006
    ..This strategy could be utilized to screen populations for the incidence of alpha-thal and also to identify rare or new molecular lesions that reduce alpha-globin gene expression...
  2. doi request reprint Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations
    Shirley J Henderson
    a National Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
    Hemoglobin 40:75-84. 2016
    ..112delC, HBA2: c.143delA, HBA2: c.143_146delACCT, HBA2: c.156_157insG, HBA2: c.220_223delGTGG, HBA2: c.305T > C [Hb Bishopstown, α101(G8)Leu → His], HBA2: c.169_170delAA, HBA2: c.1A > T and HBA2: c.-3delA. ..
  3. doi request reprint Prenatal diagnosis of hemoglobinopathies by pyrosequencing: a more sensitive and rapid approach to fetal genotyping
    Adele T Timbs
    National Haemoglobinopathy Reference Laboratory, Molecular Haematology, John Radcliffe Hospital, Oxford, UK
    Hemoglobin 36:144-50. 2012
    ....
  4. doi request reprint A large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype
    Michelle J Rugless
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Hum Mol Genet 17:3084-93. 2008
    ..These findings suggest that other than the upstream regulatory elements and promoter proximal elements there are unlikely to be additional positive cis-acting sequences in the alpha-globin cluster...