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- Publications
- Influence
Global distribution of the CCR5 gene 32-basepair deletion
- J. Martinson, N. Chapman, D. Rees, Yan-Tat Liu, J. Clegg
- Biology, Medicine
- Nature Genetics
- 1 May 1997
A mutant allele of the β-chemokine receptor gene CCR5 bearing a 32-basepair (bp) deletion (denoted Δccr5) which prevents cell invasion by the primary transmitting strain of HIV-1 has recently been… Expand
Sickle-cell disease
- D. Rees, T. Williams, M. Gladwin
- Medicine
- The Lancet
- 17 December 2010
Sickle-cell disease is one of the most common severe monogenic disorders in the world. Haemoglobin polymerisation, leading to erythrocyte rigidity and vaso-occlusion, is central to the… Expand
Worldwide distribution of a common methylenetetrahydrofolate reductase mutation.
- J. A. Schneider, D. Rees, Y. Liu, J. Clegg
- Medicine, Biology
- American journal of human genetics
- 1 May 1998
We are grateful to V. Chen, D. Higgs, A. Hill, J. Guerrerio, J. Old, N. Neary, J. Roux, A. Sofro, B. Sykes, D. Tumen, and R. Ward, for access to DNA samples, and to the Wellcome Trust, for support.
The Population Genetics of Factor V Leiden (Arg506Gln)
- D. Rees
- Medicine
- British journal of haematology
- 1 December 1996
Venous thrombosis is a common multifactorial disease, known to be associated with a number of acquired and inherited factors. Until recently, identifiable genetic predispositions towards thrombosis… Expand
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency
- S. Sumi, A. Marinaki, +9 authors J. Duley
- Biology, Medicine
- Human Genetics
- 1 October 2002
Abstract. Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes. The… Expand
World distribution of factor V Leiden
We have analysed 3380 chromosomes (1690 unrelated individuals) from twenty-four populations for the presence of factor V Leiden, an important risk factor in venous thromboembolism. The allele… Expand
FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high‐risk group
- F. Abuduhier, A. Goodeve, +6 authors J. Reilly
- Medicine
- British journal of haematology
- 1 October 2000
Genomic DNA from 106 cases of adult de novo acute myeloid leukaemia (AML) was screened by polymerase chain reaction (PCR) and gel electrophoresis for FLT3 internal tandem duplication (ITD) mutations… Expand
Significant haemoglobinopathies: guidelines for screening and diagnosis
- K. Ryan, B. Bain, +7 authors A. Streetly
- Medicine
- British journal of haematology
- 1 April 2010
Antenatal screening/testing of pregnant women should be carried out according to the guidelines of the NHS Sickle Cell and Thalassaemia Screening programme. Newborn screening and, when necessary,… Expand
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
- Elisavet Fotiou, S. Martin-Almedina, +15 authors P. Ostergaard
- Medicine
- Nature communications
- 3 September 2015
Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as… Expand
Guidelines for the management of the acute painful crisis in sickle cell disease
- D. Rees, A. Olujohungbe, N. Parker, A. Stephens, P. Telfer, Josh Wright
- Medicine
- British journal of haematology
- 1 March 2003
Severe acute pain is the commonest manifestation of sickle cell disease (SCD) requiring hospital admission in Europe and the USA. Although the pain itself is not directly lifethreatening,… Expand
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