Michelle J Rugless
Affiliation: University of Oxford
- Hb Bart's in cord blood: an accurate indicator of alpha-thalassemiaMichelle 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...
- Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel MutationsShirley 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. ..
- Prenatal diagnosis of hemoglobinopathies by pyrosequencing: a more sensitive and rapid approach to fetal genotypingAdele T Timbs
National Haemoglobinopathy Reference Laboratory, Molecular Haematology, John Radcliffe Hospital, Oxford, UK
Hemoglobin 36:144-50. 2012....
- A large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotypeMichelle 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...