Overview
I am a senior lecturer in Medical Education. I support diverse aspects of the MBBCh curriculum and postgraduate research within the Medical School. I have a research background in haemostasis in the following areas: (1) the biochemistry and quantitative control of the blood protein von Willebrand factor; (2) the genetics of haemophilia A and the relationship between the genetic cause and the phenotypic severity.
Biography
Education and qualifications
- 1984. PhD (Biochemistry). University of Wales, College Swansea.
- 1981. BSc First class honours (Biochemistry). University of Wales, College Swansea.
Career Overview
- 2015 - present. Senior Lecturer in Medical Education. Cardiff University School of Medicine.
- 2001 - 2015. Senior Lecturer in Haematology. Cardiff University School of Medicine.
- 1992 - 2001. Lecturer in Haematology. Cardiff University School of Medicine.
- 1989 - 1992. Post-doctoral research assistant. (Human Molecular Genetics). Cardiff University School of Medicine.
- 1985 - 1989. Post-doctoral research assistant. (Protein Engineering). Bristol Unviersity School of Medicine.
Professional memberships
- Member fo the Academy of Medical Educators.
Academic positions
- 2015 - present. Senior Lecturer in Medical Education. Cardiff University School of Medicine.
- 2001 - 2015. Senior Lecturer in Haematology. Cardiff University School of Medicine.
- 1992 - 2001. Lecturer in Haematology. Cardiff University School of Medicine.
- 1989 - 1992. Post-doctoral research assistant. (Human Molecular Genetics). Cardiff University School of Medicine.
- 1985 - 1989. Post-doctoral research assistant. (Protein Engineering). Bristol Unviersity School of Medicine.
Publications
2014
- Khanum, F., Bowen, D. J., Kerr, B. C. and Collins, P. W. 2014. Joint health scores in a haemophilia A cohort from Pakistan with minimal or no access to factor VIII concentrate: correlation with thrombin generation and underlying mutation. Haemophilia -Oxford- 20(3), pp. 426-434. (10.1111/hae.12326)
- Khanum, F., Collins, P., Harris, R. and Bowen, D. 2014. Characterization of F8 defects in haemophilia A in Pakistan: investigation of correlation between mutation type and the in vitro thrombin generation assay. Haemophilia 20(2), pp. 287-293. (10.1111/hae.12272)
2013
2012
- Palmer, E., Gray, L. C., Stott, M., Bowen, D. J. and Van Den Berg, C. W. 2012. Roles of promoter and 3′ untranslated motifs in expression of the human C5a receptor. Molecular Immunology 52(2), pp. 88-95. (10.1016/j.molimm.2012.04.012)
- Davies, J. A., Hathaway, L. S., Collins, P. W. and Bowen, D. J. 2012. von Willebrand factor: demographics of plasma protein level in a large blood donor cohort from South Wales in the United Kingdom [Letter]. Haemophilia 18(3), pp. e79-e81. (10.1111/j.1365-2516.2012.02782.x)
- Harris, R., Van Den Berg, C. W. and Bowen, D. J. 2012. ASGR1 and ASGR2, the genes that encode the asialoglycoprotein receptor (Ashwell receptor), are expressed in peripheral blood monocytes and show interindividual differences in transcript profile. Molecular Biology International 2012 (10.1155/2012/283974)
2010
2009
2008
2007
- Kingston, J., Bowen, D. J., Sweeney, M. C., Lawless, S., Jackson, H. and Worwood, M. 2007. Heteroduplex analysis for the three common HFE variants: methodology, reliablity and analysis of over 5000 requests for testing. Journal of Clinical Pathology 60(11), pp. 1244-1248. (10.1136/jcp.2006.042010)
- Green, P., Hill, M. and Bowen, D. J. 2007. Duplications involving int22h-1 of the factor VIII gene: a cause for concern in genetic testing for hemophilia A? [Letter]. Journal of Thrombosis and Haemostasis 5(10), pp. 2155-2156. (10.1111/j.1538-7836.2007.02697.x)
- Bowen, D. J. and Bowley, S. 2007. Improved visualisation of high-molecular-weight von Willebrand factor multimers. Thrombosis and Haemostasis 97(6), pp. 1051-1052. (10.1160/TH06-12-0726)
- Davies, J. A. and Bowen, D. J. 2007. The association between the L1565 variant of von Willebrand factor and susceptibility to proteolysis by ADAMTS13. Haematologica 92(2), pp. 240-243. (10.3324/haematol.10633)
- Davies, J. A., Collins, P. W., Hathaway, L. S. and Bowen, D. J. 2007. von Willebrand factor: evidence for variable clearance in vivo according to Y/C1584 phenotype and ABO blood group. Journal of Thrombosis and Haemostatis 6(1), pp. 97-103. (10.1111/j.1538-7836.2007.02809.x)
2006
- Davies, J. A., Collins, P. W., Hathaway, L. S. and Bowen, D. J. 2006. The effect of von Willebrand factor Y/C1584 on in vivo protein level and function, and interaction with ABO blood group. Blood 109(7), pp. 2840-2846. (10.1182/blood-2006-07-035105)
- Cumming, A. et al. 2006. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Journal of Thrombosis and Haemostasis 96, pp. 630-641. (10.1160/TH06-07-0383)
- Bowen, D. J. and Collins, P. W. 2006. Insights into von Willebrand factor proteolysis: clinical implications [Review]. British Journal of Haematology 133(5), pp. 457-467. (10.1111/j.1365-2141.2006.06096.x)
- Haj, M. A., Murch, N., Bowen, D. J., Sati, H. I., Beddal, A., Benton, A. and Collins, P. W. 2006. Cefotaxime as the potential cause of transient acquired von Willebrand syndrome. European Journal of Haematology 76(5), pp. 440-443. (10.1111/j.0902-4441.2006.t01-1-EJH2386.x)
2005
2004
- Belli, C., Bowen, D. J., De Brasi, C. and Larripa, I. 2004. A single, multiplex analysis for all relevant activating NRAS gene mutations using heteroduplex generators. British Journal of Haematology 126(4), pp. 602-605. (10.1111/j.1365-2141.2004.05079.x)
- Bowen, D. J. 2004. Increased susceptibility of von Willebrand factor to proteolysis by ADAMTS13: should the multimer profile be normal or type 2A? [Letter]. Blood -New York- 103(8), article number: 3246. (10.1182/blood-2004-01-0376)
- Carter, K., Bowen, D. J., McCune, C. A. and Worwood, M. 2004. Response to Langlois et al (LE 01059). British Journal of Haematology 124(4), pp. 556-557. (10.1046/j.1365-2141.2003.04798.x)
- Bowen, D. J. and Collins, P. W. 2004. An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13. Blood 103(3), pp. 941-947. (10.1182/blood-2003-05-1505)
2003
- Bowen, D. J. 2003. Genome-wide linkage analysis of von Willebrand factor plasma levels implicates the ABO locus as a principal determinant: should we overlook ADAMTS13?. Thrombosis and Haemostasis 90(5), pp. 961.
- Brown, S. A., Eldridge, A., Collins, P. W. and Bowen, D. J. 2003. Increased clearance of von Willebrand factor antigen post-DDAVP in Type 1 von Willebrand disease: is it a potential pathogenic process?. Journal Of Thrombosis And Haemostasis 1(8), pp. 1714-1717. (10.1046/j.1538-7836.2003.00359.x)
- Carter, K., Bowen, D. J., McCune, C. A. and Worwood, M. 2003. Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis. British Journal of Haematology 122(2), pp. 326-332. (10.1046/j.1365-2141.2003.04436.x)
- Bowen, D. J. 2003. An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13. Journal of Thrombosis and Haemostasis 1(1), pp. 33-40. (10.1046/j.1538-7836.2003.00007.x)
- Bowen, D. J. and Keeney, S. 2003. Unleashing the long-distance PCR for detection of the intron 22 inversion of the factor VIII gene in severe haemophilia A [Letter]. Thrombosis and Haemostasis 89(1), pp. 201-202.
- Bowen, D. J. 2003. An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13. Journal of Thrombosis and Haemostatis 1(1), pp. 33-40. (10.1046/j.1538-7836.2003.00007.x)
2002
- Rogers, S. A., Bowen, D. J., Ling, M., Thomson, P., Wang, Z. and Lim, S. H. 2002. Identification and characterization of a novel gene encoding a SEREX antigen in chronic myeloid leukaemia. British Journal of Haematology 119(1), pp. 112-114. (10.1046/j.1365-2141.2002.03775.x)
- Brown, S. A., Bowen, D. J., Hallett, M. B., Giddings, J. C. and Collins, P. W. 2002. Factor VIIa induced release of von Willebrand factor from human umbilical vein endothelial cells by a tyrosine kinase dependent pathway. Journal of Thrombosis and Haemostasis 87, pp. 1057-1061.
- Brown, S. A., Collins, P. W. and Bowen, D. J. 2002. Heterogeneous detection of A-antigen on von Willebrand factor derived from platelets, endothelial cells and plasma. Thrombosis and Haemostasis 87(6), pp. 990-996.
- Bowen, D. J. 2002. Haemophilia A and haemophilia B: molecular insights [Review. Corrected version]. Molecular Pathology 55(2), pp. 127-144. (10.1136/mp.55.2.127)
- Bowen, D. J. 2002. Haemophilia A and haemophilia B: molecular insights [review]. Molecular Pathology 55(1), pp. 1-18. (10.1136/mp.55.1.1)
- De Brasi, C. D., Bowen, D. J., Collins, P. W. and Larripa, I. B. 2002. The CpG island in intron 22 of the factor VIII gene is predominantly methylated on the X chromosome of human males. Journal of Human Genetics 47(5), pp. 239-242. (10.1007/s100380200032)
- De Brasi, C. D., Bowen, D. J., Collins, P. W. and Larripa, I. B. 2002. The CpG island in intron 22 of the factor VIII gene is predominantly methylated on the X chromosome of human males. Journal of Human Genetics 47(5), pp. 239-242.
2001
2000
1999
- De Brasi, C. D., Bowen, D. J., Collins, P. W. and Larripa, I. B. 1999. Specific analysis of the intron 22 XbaI polymorphism of the human factor VIII gene using long-distance PCR. British Journal of Haematology 107(3), pp. 566-568. (10.1046/j.1365-2141.1999.01731.x)
- MacLean, R. M., Feeney, G. P., Bowley, S. J., Bowen, D. J., Worwood, M. and Collins, P. W. 1999. Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease?. British Journal of Haematology 107(1), pp. 210-212. (10.1046/j.1365-2141.1999.01663.x)
1998
- Clark, Z. E., Bowen, D. J., Whatley, S. D., Bellamy, M. F., Collins, P. W. and McDowell, I. F. 1998. Genotyping method for methylenetetrahydrofolate reductase (C677T thermolabile variant) using heteroduplex technology [Technical Brief]. Clinical Chemistry 44(11), pp. 2360-2362.
- Howarth, A. and Bowen, D. J. 1998. Linkage analysis in haemophilia A: simultaneous genotyping of two polymorphisms of the human factor VIII gene using induced heteroduplex formation. Haemophilia 4(6), pp. 812-819. (10.1046/j.1365-2516.1998.00202.x)
- Bowen, D. J., Standen, G. R., Mazurier, C., Gaucher, C., Cumming, A., Keeney, S. and Bidwell, J. 1998. Type 2N von Willebrand Disease: Rapid Genetic Diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F) – Detection of a Novel Candidate Type 2N Mutation: C2810T (R854W). Thrombosis and Haemostasis 80(1), pp. 32-36.
- Culpan, D., Goodeve, A., Bowen, D. J., Standen, G. and Bidwell, J. 1998. Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis. Clinical and Laboratory Haematology 20(3), pp. 177-178. (10.1046/j.1365-2257.1998.00111.x)
- Bowen, D. J., Bowley, S., John, M. and Collins, P. W. 1998. Factor V Leiden (G1691A), the Prothrombin 3’-Untranslated Region Variant (G20210A) and Thermolabile Methylenetetra-hydrofolate Reductase (C677T): A Single Genetic Test Genotypes all Three Loci – Determination of Frequencies in the S. Wales Population. Thrombosis and Haemostasis 79(5), pp. 949-954.
1997
- Jackson, H. A., Bowen, D. J. and Worwood, M. 1997. Rapid genetic screening for haemochromatosis using heteroduplex technology. British Journal of Haematology 98(4), pp. 856-859. (10.1046/j.1365-2141.1997.3193136.x)
- Bowen, D. J. and Standen, G. 1997. Genetic detection of factor V Leiden: the question of specificity [Letter]. British Journal of Haematology 97(3), pp. 691-692.
- Bowen, D. J., Standen, G. R., Granville, S., Bowley, S., Wood, N. A. and Bidwell, J. 1997. Genetic diagnosis of factor V Leiden using heteroduplex technology. Thrombosis and Haemostasis 77(1), pp. 119-122.
1996
- Aslam, S., Bowen, D. J., Mandalaki, T., Gialeraki, R. and Standen, G. R. 1996. Factor XIIIA subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the A subunit gene. American Journal of Hematology 53(2), pp. 77-80. (10.1002/(SICI)1096-8652(199610)53:2<77::AID-AJH4>3.0.CO;2-0)
- Bowen, D. J. and Hampton, K. K. 1996. Analysis of the BglI restriction fragment length polymorphism in the human factor VIII gene using “virtual PCR”– a novel approach employing the polymerase chain reaction in the absence of sequence information for the locus. Human Genetics 98(2), pp. 219-222. (10.1007/s004390050195)
- Bowen, D. J., Raha-Chowdhury, R. and Worwood, M. 1996. A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis. Human Genetics 97(2), pp. 228-231. (10.1007/BF02265271)
- Wood, N. R., Standen, G. R., Bowen, D. J., Cumming, A., Lush, C., Lee, R. and Bidwell, J. 1996. UHG-based mutation screening in type 2B von Willebrand's disease: detection of a candidate mutation Ser547Phe. Thrombosis and Haemostasis 75(2), pp. 363-367.
- Evans, B. A. J., Bowen, D. J., Smith, P. J., Clayton, P. E. and Gregory, J. W. 1996. A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. Journal of Medical Genetics 33(2), pp. 143-147. (10.1136/jmg.33.2.143)
1995
- Raha-Chowdhury, R. et al. 1995. New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Human Molecular Genetics 4(10), pp. 1869-1874. (10.1093/hmg/4.10.1869)
- Aslam, S., Poon, M., Yee, V. C., Bowen, D. J. and Standen, G. R. 1995. Factor XIIIA calgary: a candidate missense mutation (Leu667Pro) in the beta barrel 2 domain of the factor XIIIA subunit. British Journal of Haematology 91(2), pp. 452-457. (10.1111/j.1365-2141.1995.tb05321.x)
- Raha-Chowdhury, R., Bowen, D. J., Burnett, A. K. and Worwood, M. 1995. Allelic associations and homozygosity at loci from HLA-B to D6S299 in genetic haemochromatosis. Journal of Medical Genetics 32(6), pp. 446-452. (10.1136/jmg.32.6.446)
1994
- Figueiredo, M. S., Bowen, D. J., Silva, W. A. and Zago, M. A. 1994. Factor IX gene haplotypes in Brazilian Blacks and characterization of unusual Ddel alleles. British Journal of Haematology 87(4), pp. 789-796. (10.1111/j.1365-2141.1994.tb06739.x)
- Worwood, M., Raha-Chowdhury, R., Dorak, M. T., Darke, C., Bowen, D. J. and Burnett, A. K. 1994. Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype. British Journal of Haematology 86(4), pp. 863-866. (10.1111/j.1365-2141.1994.tb04843.x)
1993
1991
- Bowen, D. J., Thomas, P., Webb, C. E., Bignell, P., Peake, I. R. and Bloom, A. L. 1991. Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction. British Journal of Haematology 77(4), pp. 559-560. (10.1111/j.1365-2141.1991.tb08626.x)
Articles
- Khanum, F., Bowen, D. J., Kerr, B. C. and Collins, P. W. 2014. Joint health scores in a haemophilia A cohort from Pakistan with minimal or no access to factor VIII concentrate: correlation with thrombin generation and underlying mutation. Haemophilia -Oxford- 20(3), pp. 426-434. (10.1111/hae.12326)
- Khanum, F., Collins, P., Harris, R. and Bowen, D. 2014. Characterization of F8 defects in haemophilia A in Pakistan: investigation of correlation between mutation type and the in vitro thrombin generation assay. Haemophilia 20(2), pp. 287-293. (10.1111/hae.12272)
- Burnett, A. K. et al. 2013. The addition of gemtuzumab ozogamicin to low-dose Ara-C improves remission rate but does not significantly prolong survival in older patients with acute myeloid leukaemia: results from the LRF AML14 and NCRI AML16 pick-a-winner comparison. Leukemia 27, pp. 75-81. (10.1038/leu.2012.229)
- Palmer, E., Gray, L. C., Stott, M., Bowen, D. J. and Van Den Berg, C. W. 2012. Roles of promoter and 3′ untranslated motifs in expression of the human C5a receptor. Molecular Immunology 52(2), pp. 88-95. (10.1016/j.molimm.2012.04.012)
- Davies, J. A., Hathaway, L. S., Collins, P. W. and Bowen, D. J. 2012. von Willebrand factor: demographics of plasma protein level in a large blood donor cohort from South Wales in the United Kingdom [Letter]. Haemophilia 18(3), pp. e79-e81. (10.1111/j.1365-2516.2012.02782.x)
- Harris, R., Van Den Berg, C. W. and Bowen, D. J. 2012. ASGR1 and ASGR2, the genes that encode the asialoglycoprotein receptor (Ashwell receptor), are expressed in peripheral blood monocytes and show interindividual differences in transcript profile. Molecular Biology International 2012 (10.1155/2012/283974)
- Bowen, D. J. 2010. Sugar targets VWF for the chop (Comment on McGrath et al). Blood 115(13), pp. 2565. (10.1182/blood-2009-12-256925)
- Sutherland, M. S. et al. 2009. A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. Blood 114(5), pp. 1091-1098. (10.1182/blood-2008-08-173278)
- De Brasi, C. D. and Bowen, D. J. 2008. Molecular characteristics of the intron 22 homologs of the coagulation factor VIII gene: an update [Letter]. Journal of Thrombosis and Haemostatis 6(10), pp. 1822-1824. (10.1111/j.1538-7836.2008.03094.x)
- Millar, C. M. et al. 2008. Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations. Thrombosis and Haemostasis 99(5), pp. 916-924. (10.1160/TH07-09-0565)
- Kingston, J., Bowen, D. J., Sweeney, M. C., Lawless, S., Jackson, H. and Worwood, M. 2007. Heteroduplex analysis for the three common HFE variants: methodology, reliablity and analysis of over 5000 requests for testing. Journal of Clinical Pathology 60(11), pp. 1244-1248. (10.1136/jcp.2006.042010)
- Green, P., Hill, M. and Bowen, D. J. 2007. Duplications involving int22h-1 of the factor VIII gene: a cause for concern in genetic testing for hemophilia A? [Letter]. Journal of Thrombosis and Haemostasis 5(10), pp. 2155-2156. (10.1111/j.1538-7836.2007.02697.x)
- Bowen, D. J. and Bowley, S. 2007. Improved visualisation of high-molecular-weight von Willebrand factor multimers. Thrombosis and Haemostasis 97(6), pp. 1051-1052. (10.1160/TH06-12-0726)
- Davies, J. A. and Bowen, D. J. 2007. The association between the L1565 variant of von Willebrand factor and susceptibility to proteolysis by ADAMTS13. Haematologica 92(2), pp. 240-243. (10.3324/haematol.10633)
- Davies, J. A., Collins, P. W., Hathaway, L. S. and Bowen, D. J. 2007. von Willebrand factor: evidence for variable clearance in vivo according to Y/C1584 phenotype and ABO blood group. Journal of Thrombosis and Haemostatis 6(1), pp. 97-103. (10.1111/j.1538-7836.2007.02809.x)
- Davies, J. A., Collins, P. W., Hathaway, L. S. and Bowen, D. J. 2006. The effect of von Willebrand factor Y/C1584 on in vivo protein level and function, and interaction with ABO blood group. Blood 109(7), pp. 2840-2846. (10.1182/blood-2006-07-035105)
- Cumming, A. et al. 2006. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Journal of Thrombosis and Haemostasis 96, pp. 630-641. (10.1160/TH06-07-0383)
- Bowen, D. J. and Collins, P. W. 2006. Insights into von Willebrand factor proteolysis: clinical implications [Review]. British Journal of Haematology 133(5), pp. 457-467. (10.1111/j.1365-2141.2006.06096.x)
- Haj, M. A., Murch, N., Bowen, D. J., Sati, H. I., Beddal, A., Benton, A. and Collins, P. W. 2006. Cefotaxime as the potential cause of transient acquired von Willebrand syndrome. European Journal of Haematology 76(5), pp. 440-443. (10.1111/j.0902-4441.2006.t01-1-EJH2386.x)
- Bowen, D. J. et al. 2005. The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype. British Journal of Haematology 128(6), pp. 830-836. (10.1111/j.1365-2141.2005.05375.x)
- Belli, C., Bowen, D. J., De Brasi, C. and Larripa, I. 2004. A single, multiplex analysis for all relevant activating NRAS gene mutations using heteroduplex generators. British Journal of Haematology 126(4), pp. 602-605. (10.1111/j.1365-2141.2004.05079.x)
- Bowen, D. J. 2004. Increased susceptibility of von Willebrand factor to proteolysis by ADAMTS13: should the multimer profile be normal or type 2A? [Letter]. Blood -New York- 103(8), article number: 3246. (10.1182/blood-2004-01-0376)
- Carter, K., Bowen, D. J., McCune, C. A. and Worwood, M. 2004. Response to Langlois et al (LE 01059). British Journal of Haematology 124(4), pp. 556-557. (10.1046/j.1365-2141.2003.04798.x)
- Bowen, D. J. and Collins, P. W. 2004. An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13. Blood 103(3), pp. 941-947. (10.1182/blood-2003-05-1505)
- Bowen, D. J. 2003. Genome-wide linkage analysis of von Willebrand factor plasma levels implicates the ABO locus as a principal determinant: should we overlook ADAMTS13?. Thrombosis and Haemostasis 90(5), pp. 961.
- Brown, S. A., Eldridge, A., Collins, P. W. and Bowen, D. J. 2003. Increased clearance of von Willebrand factor antigen post-DDAVP in Type 1 von Willebrand disease: is it a potential pathogenic process?. Journal Of Thrombosis And Haemostasis 1(8), pp. 1714-1717. (10.1046/j.1538-7836.2003.00359.x)
- Carter, K., Bowen, D. J., McCune, C. A. and Worwood, M. 2003. Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis. British Journal of Haematology 122(2), pp. 326-332. (10.1046/j.1365-2141.2003.04436.x)
- Bowen, D. J. 2003. An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13. Journal of Thrombosis and Haemostasis 1(1), pp. 33-40. (10.1046/j.1538-7836.2003.00007.x)
- Bowen, D. J. and Keeney, S. 2003. Unleashing the long-distance PCR for detection of the intron 22 inversion of the factor VIII gene in severe haemophilia A [Letter]. Thrombosis and Haemostasis 89(1), pp. 201-202.
- Bowen, D. J. 2003. An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13. Journal of Thrombosis and Haemostatis 1(1), pp. 33-40. (10.1046/j.1538-7836.2003.00007.x)
- Rogers, S. A., Bowen, D. J., Ling, M., Thomson, P., Wang, Z. and Lim, S. H. 2002. Identification and characterization of a novel gene encoding a SEREX antigen in chronic myeloid leukaemia. British Journal of Haematology 119(1), pp. 112-114. (10.1046/j.1365-2141.2002.03775.x)
- Brown, S. A., Bowen, D. J., Hallett, M. B., Giddings, J. C. and Collins, P. W. 2002. Factor VIIa induced release of von Willebrand factor from human umbilical vein endothelial cells by a tyrosine kinase dependent pathway. Journal of Thrombosis and Haemostasis 87, pp. 1057-1061.
- Brown, S. A., Collins, P. W. and Bowen, D. J. 2002. Heterogeneous detection of A-antigen on von Willebrand factor derived from platelets, endothelial cells and plasma. Thrombosis and Haemostasis 87(6), pp. 990-996.
- Bowen, D. J. 2002. Haemophilia A and haemophilia B: molecular insights [Review. Corrected version]. Molecular Pathology 55(2), pp. 127-144. (10.1136/mp.55.2.127)
- Bowen, D. J. 2002. Haemophilia A and haemophilia B: molecular insights [review]. Molecular Pathology 55(1), pp. 1-18. (10.1136/mp.55.1.1)
- De Brasi, C. D., Bowen, D. J., Collins, P. W. and Larripa, I. B. 2002. The CpG island in intron 22 of the factor VIII gene is predominantly methylated on the X chromosome of human males. Journal of Human Genetics 47(5), pp. 239-242. (10.1007/s100380200032)
- De Brasi, C. D., Bowen, D. J., Collins, P. W. and Larripa, I. B. 2002. The CpG island in intron 22 of the factor VIII gene is predominantly methylated on the X chromosome of human males. Journal of Human Genetics 47(5), pp. 239-242.
- Bowen, D. J., MacLean, R. M., Pellard, S. and Collins, P. W. 2001. High concentrations of coagulation factor VIII and thrombosis: Is the factor VIII-binding domain of von Willebrand factor implicated?. British Journal of Haematology 113(3), pp. 655-657. (10.1046/j.1365-2141.2001.02830.x)
- Bowen, D. J., De Brasi, C. D., Larripa, I. B. and Collins, P. W. 2000. A new polymorphism in the human factor VIII gene: implications for linkage analysis in haemophilia A and for the evolution of int22h sequences. British Journal of Haematology 111(2), pp. 544-548. (10.1111/j.1365-2141.2000.02373.x)
- Bowen, D. J. 2000. An effective route for the isolation of human genetic loci exemplified using the BglI restriction fragment length polymorphism of the factor VIII gene. Thrombosis and Haemostasis 83(3), pp. 512-513.
- De Brasi, C. D., Bowen, D. J., Collins, P. W. and Larripa, I. B. 1999. Specific analysis of the intron 22 XbaI polymorphism of the human factor VIII gene using long-distance PCR. British Journal of Haematology 107(3), pp. 566-568. (10.1046/j.1365-2141.1999.01731.x)
- MacLean, R. M., Feeney, G. P., Bowley, S. J., Bowen, D. J., Worwood, M. and Collins, P. W. 1999. Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease?. British Journal of Haematology 107(1), pp. 210-212. (10.1046/j.1365-2141.1999.01663.x)
- Clark, Z. E., Bowen, D. J., Whatley, S. D., Bellamy, M. F., Collins, P. W. and McDowell, I. F. 1998. Genotyping method for methylenetetrahydrofolate reductase (C677T thermolabile variant) using heteroduplex technology [Technical Brief]. Clinical Chemistry 44(11), pp. 2360-2362.
- Howarth, A. and Bowen, D. J. 1998. Linkage analysis in haemophilia A: simultaneous genotyping of two polymorphisms of the human factor VIII gene using induced heteroduplex formation. Haemophilia 4(6), pp. 812-819. (10.1046/j.1365-2516.1998.00202.x)
- Bowen, D. J., Standen, G. R., Mazurier, C., Gaucher, C., Cumming, A., Keeney, S. and Bidwell, J. 1998. Type 2N von Willebrand Disease: Rapid Genetic Diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F) – Detection of a Novel Candidate Type 2N Mutation: C2810T (R854W). Thrombosis and Haemostasis 80(1), pp. 32-36.
- Culpan, D., Goodeve, A., Bowen, D. J., Standen, G. and Bidwell, J. 1998. Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis. Clinical and Laboratory Haematology 20(3), pp. 177-178. (10.1046/j.1365-2257.1998.00111.x)
- Bowen, D. J., Bowley, S., John, M. and Collins, P. W. 1998. Factor V Leiden (G1691A), the Prothrombin 3’-Untranslated Region Variant (G20210A) and Thermolabile Methylenetetra-hydrofolate Reductase (C677T): A Single Genetic Test Genotypes all Three Loci – Determination of Frequencies in the S. Wales Population. Thrombosis and Haemostasis 79(5), pp. 949-954.
- Jackson, H. A., Bowen, D. J. and Worwood, M. 1997. Rapid genetic screening for haemochromatosis using heteroduplex technology. British Journal of Haematology 98(4), pp. 856-859. (10.1046/j.1365-2141.1997.3193136.x)
- Bowen, D. J. and Standen, G. 1997. Genetic detection of factor V Leiden: the question of specificity [Letter]. British Journal of Haematology 97(3), pp. 691-692.
- Bowen, D. J., Standen, G. R., Granville, S., Bowley, S., Wood, N. A. and Bidwell, J. 1997. Genetic diagnosis of factor V Leiden using heteroduplex technology. Thrombosis and Haemostasis 77(1), pp. 119-122.
- Aslam, S., Bowen, D. J., Mandalaki, T., Gialeraki, R. and Standen, G. R. 1996. Factor XIIIA subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the A subunit gene. American Journal of Hematology 53(2), pp. 77-80. (10.1002/(SICI)1096-8652(199610)53:2<77::AID-AJH4>3.0.CO;2-0)
- Bowen, D. J. and Hampton, K. K. 1996. Analysis of the BglI restriction fragment length polymorphism in the human factor VIII gene using “virtual PCR”– a novel approach employing the polymerase chain reaction in the absence of sequence information for the locus. Human Genetics 98(2), pp. 219-222. (10.1007/s004390050195)
- Bowen, D. J., Raha-Chowdhury, R. and Worwood, M. 1996. A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis. Human Genetics 97(2), pp. 228-231. (10.1007/BF02265271)
- Wood, N. R., Standen, G. R., Bowen, D. J., Cumming, A., Lush, C., Lee, R. and Bidwell, J. 1996. UHG-based mutation screening in type 2B von Willebrand's disease: detection of a candidate mutation Ser547Phe. Thrombosis and Haemostasis 75(2), pp. 363-367.
- Evans, B. A. J., Bowen, D. J., Smith, P. J., Clayton, P. E. and Gregory, J. W. 1996. A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. Journal of Medical Genetics 33(2), pp. 143-147. (10.1136/jmg.33.2.143)
- Raha-Chowdhury, R. et al. 1995. New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Human Molecular Genetics 4(10), pp. 1869-1874. (10.1093/hmg/4.10.1869)
- Aslam, S., Poon, M., Yee, V. C., Bowen, D. J. and Standen, G. R. 1995. Factor XIIIA calgary: a candidate missense mutation (Leu667Pro) in the beta barrel 2 domain of the factor XIIIA subunit. British Journal of Haematology 91(2), pp. 452-457. (10.1111/j.1365-2141.1995.tb05321.x)
- Raha-Chowdhury, R., Bowen, D. J., Burnett, A. K. and Worwood, M. 1995. Allelic associations and homozygosity at loci from HLA-B to D6S299 in genetic haemochromatosis. Journal of Medical Genetics 32(6), pp. 446-452. (10.1136/jmg.32.6.446)
- Figueiredo, M. S., Bowen, D. J., Silva, W. A. and Zago, M. A. 1994. Factor IX gene haplotypes in Brazilian Blacks and characterization of unusual Ddel alleles. British Journal of Haematology 87(4), pp. 789-796. (10.1111/j.1365-2141.1994.tb06739.x)
- Worwood, M., Raha-Chowdhury, R., Dorak, M. T., Darke, C., Bowen, D. J. and Burnett, A. K. 1994. Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype. British Journal of Haematology 86(4), pp. 863-866. (10.1111/j.1365-2141.1994.tb04843.x)
- Standen, G. R. and Bowen, D. J. 1993. Factor XIII ABristol 1: detection of a nonsense mutation (Arg171→+stop codon) in factor XIII A subunit deficiency. British Journal of Haematology 85(4), pp. 769-772. (10.1111/j.1365-2141.1993.tb03221.x)
- Bowen, D. J., Thomas, P., Webb, C. E., Bignell, P., Peake, I. R. and Bloom, A. L. 1991. Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction. British Journal of Haematology 77(4), pp. 559-560. (10.1111/j.1365-2141.1991.tb08626.x)
- Palmer, E., Gray, L. C., Stott, M., Bowen, D. J. and Van Den Berg, C. W. 2012. Roles of promoter and 3′ untranslated motifs in expression of the human C5a receptor. Molecular Immunology 52(2), pp. 88-95. (10.1016/j.molimm.2012.04.012)
- Davies, J. A., Hathaway, L. S., Collins, P. W. and Bowen, D. J. 2012. von Willebrand factor: demographics of plasma protein level in a large blood donor cohort from South Wales in the United Kingdom [Letter]. Haemophilia 18(3), pp. e79-e81. (10.1111/j.1365-2516.2012.02782.x)
- Harris, R., Van Den Berg, C. W. and Bowen, D. J. 2012. ASGR1 and ASGR2, the genes that encode the asialoglycoprotein receptor (Ashwell receptor), are expressed in peripheral blood monocytes and show interindividual differences in transcript profile. Molecular Biology International 2012 (10.1155/2012/283974)
- Bowen, D. J. 2010. Sugar targets VWF for the chop (Comment on McGrath et al). Blood 115(13), pp. 2565. (10.1182/blood-2009-12-256925)
- Sutherland, M. S. et al. 2009. A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. Blood 114(5), pp. 1091-1098. (10.1182/blood-2008-08-173278)
- De Brasi, C. D. and Bowen, D. J. 2008. Molecular characteristics of the intron 22 homologs of the coagulation factor VIII gene: an update [Letter]. Journal of Thrombosis and Haemostatis 6(10), pp. 1822-1824. (10.1111/j.1538-7836.2008.03094.x)
- Millar, C. M. et al. 2008. Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations. Thrombosis and Haemostasis 99(5), pp. 916-924. (10.1160/TH07-09-0565)
- Kingston, J., Bowen, D. J., Sweeney, M. C., Lawless, S., Jackson, H. and Worwood, M. 2007. Heteroduplex analysis for the three common HFE variants: methodology, reliablity and analysis of over 5000 requests for testing. Journal of Clinical Pathology 60(11), pp. 1244-1248. (10.1136/jcp.2006.042010)
- Green, P., Hill, M. and Bowen, D. J. 2007. Duplications involving int22h-1 of the factor VIII gene: a cause for concern in genetic testing for hemophilia A? [Letter]. Journal of Thrombosis and Haemostasis 5(10), pp. 2155-2156. (10.1111/j.1538-7836.2007.02697.x)
- Bowen, D. J. and Bowley, S. 2007. Improved visualisation of high-molecular-weight von Willebrand factor multimers. Thrombosis and Haemostasis 97(6), pp. 1051-1052. (10.1160/TH06-12-0726)
- Davies, J. A. and Bowen, D. J. 2007. The association between the L1565 variant of von Willebrand factor and susceptibility to proteolysis by ADAMTS13. Haematologica 92(2), pp. 240-243. (10.3324/haematol.10633)
- Davies, J. A., Collins, P. W., Hathaway, L. S. and Bowen, D. J. 2007. von Willebrand factor: evidence for variable clearance in vivo according to Y/C1584 phenotype and ABO blood group. Journal of Thrombosis and Haemostatis 6(1), pp. 97-103. (10.1111/j.1538-7836.2007.02809.x)
- Davies, J. A., Collins, P. W., Hathaway, L. S. and Bowen, D. J. 2006. The effect of von Willebrand factor Y/C1584 on in vivo protein level and function, and interaction with ABO blood group. Blood 109(7), pp. 2840-2846. (10.1182/blood-2006-07-035105)
- Cumming, A. et al. 2006. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Journal of Thrombosis and Haemostasis 96, pp. 630-641. (10.1160/TH06-07-0383)
- Bowen, D. J. and Collins, P. W. 2006. Insights into von Willebrand factor proteolysis: clinical implications [Review]. British Journal of Haematology 133(5), pp. 457-467. (10.1111/j.1365-2141.2006.06096.x)
- Haj, M. A., Murch, N., Bowen, D. J., Sati, H. I., Beddal, A., Benton, A. and Collins, P. W. 2006. Cefotaxime as the potential cause of transient acquired von Willebrand syndrome. European Journal of Haematology 76(5), pp. 440-443. (10.1111/j.0902-4441.2006.t01-1-EJH2386.x)
- Bowen, D. J. et al. 2005. The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype. British Journal of Haematology 128(6), pp. 830-836. (10.1111/j.1365-2141.2005.05375.x)
- Belli, C., Bowen, D. J., De Brasi, C. and Larripa, I. 2004. A single, multiplex analysis for all relevant activating NRAS gene mutations using heteroduplex generators. British Journal of Haematology 126(4), pp. 602-605. (10.1111/j.1365-2141.2004.05079.x)
- Bowen, D. J. 2004. Increased susceptibility of von Willebrand factor to proteolysis by ADAMTS13: should the multimer profile be normal or type 2A? [Letter]. Blood -New York- 103(8), article number: 3246. (10.1182/blood-2004-01-0376)
- Carter, K., Bowen, D. J., McCune, C. A. and Worwood, M. 2004. Response to Langlois et al (LE 01059). British Journal of Haematology 124(4), pp. 556-557. (10.1046/j.1365-2141.2003.04798.x)
- Bowen, D. J. and Collins, P. W. 2004. An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13. Blood 103(3), pp. 941-947. (10.1182/blood-2003-05-1505)
- Bowen, D. J. 2003. Genome-wide linkage analysis of von Willebrand factor plasma levels implicates the ABO locus as a principal determinant: should we overlook ADAMTS13?. Thrombosis and Haemostasis 90(5), pp. 961.
- Brown, S. A., Eldridge, A., Collins, P. W. and Bowen, D. J. 2003. Increased clearance of von Willebrand factor antigen post-DDAVP in Type 1 von Willebrand disease: is it a potential pathogenic process?. Journal Of Thrombosis And Haemostasis 1(8), pp. 1714-1717. (10.1046/j.1538-7836.2003.00359.x)
- Carter, K., Bowen, D. J., McCune, C. A. and Worwood, M. 2003. Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis. British Journal of Haematology 122(2), pp. 326-332. (10.1046/j.1365-2141.2003.04436.x)
- Bowen, D. J. 2003. An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13. Journal of Thrombosis and Haemostasis 1(1), pp. 33-40. (10.1046/j.1538-7836.2003.00007.x)
- Bowen, D. J. and Keeney, S. 2003. Unleashing the long-distance PCR for detection of the intron 22 inversion of the factor VIII gene in severe haemophilia A [Letter]. Thrombosis and Haemostasis 89(1), pp. 201-202.
- Bowen, D. J. 2003. An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13. Journal of Thrombosis and Haemostatis 1(1), pp. 33-40. (10.1046/j.1538-7836.2003.00007.x)
- Rogers, S. A., Bowen, D. J., Ling, M., Thomson, P., Wang, Z. and Lim, S. H. 2002. Identification and characterization of a novel gene encoding a SEREX antigen in chronic myeloid leukaemia. British Journal of Haematology 119(1), pp. 112-114. (10.1046/j.1365-2141.2002.03775.x)
- Brown, S. A., Bowen, D. J., Hallett, M. B., Giddings, J. C. and Collins, P. W. 2002. Factor VIIa induced release of von Willebrand factor from human umbilical vein endothelial cells by a tyrosine kinase dependent pathway. Journal of Thrombosis and Haemostasis 87, pp. 1057-1061.
- Brown, S. A., Collins, P. W. and Bowen, D. J. 2002. Heterogeneous detection of A-antigen on von Willebrand factor derived from platelets, endothelial cells and plasma. Thrombosis and Haemostasis 87(6), pp. 990-996.
- Bowen, D. J. 2002. Haemophilia A and haemophilia B: molecular insights [Review. Corrected version]. Molecular Pathology 55(2), pp. 127-144. (10.1136/mp.55.2.127)
- Bowen, D. J. 2002. Haemophilia A and haemophilia B: molecular insights [review]. Molecular Pathology 55(1), pp. 1-18. (10.1136/mp.55.1.1)
- De Brasi, C. D., Bowen, D. J., Collins, P. W. and Larripa, I. B. 2002. The CpG island in intron 22 of the factor VIII gene is predominantly methylated on the X chromosome of human males. Journal of Human Genetics 47(5), pp. 239-242. (10.1007/s100380200032)
- De Brasi, C. D., Bowen, D. J., Collins, P. W. and Larripa, I. B. 2002. The CpG island in intron 22 of the factor VIII gene is predominantly methylated on the X chromosome of human males. Journal of Human Genetics 47(5), pp. 239-242.
- Bowen, D. J., MacLean, R. M., Pellard, S. and Collins, P. W. 2001. High concentrations of coagulation factor VIII and thrombosis: Is the factor VIII-binding domain of von Willebrand factor implicated?. British Journal of Haematology 113(3), pp. 655-657. (10.1046/j.1365-2141.2001.02830.x)
- Bowen, D. J., De Brasi, C. D., Larripa, I. B. and Collins, P. W. 2000. A new polymorphism in the human factor VIII gene: implications for linkage analysis in haemophilia A and for the evolution of int22h sequences. British Journal of Haematology 111(2), pp. 544-548. (10.1111/j.1365-2141.2000.02373.x)
- Bowen, D. J. 2000. An effective route for the isolation of human genetic loci exemplified using the BglI restriction fragment length polymorphism of the factor VIII gene. Thrombosis and Haemostasis 83(3), pp. 512-513.
- De Brasi, C. D., Bowen, D. J., Collins, P. W. and Larripa, I. B. 1999. Specific analysis of the intron 22 XbaI polymorphism of the human factor VIII gene using long-distance PCR. British Journal of Haematology 107(3), pp. 566-568. (10.1046/j.1365-2141.1999.01731.x)
- MacLean, R. M., Feeney, G. P., Bowley, S. J., Bowen, D. J., Worwood, M. and Collins, P. W. 1999. Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease?. British Journal of Haematology 107(1), pp. 210-212. (10.1046/j.1365-2141.1999.01663.x)
- Clark, Z. E., Bowen, D. J., Whatley, S. D., Bellamy, M. F., Collins, P. W. and McDowell, I. F. 1998. Genotyping method for methylenetetrahydrofolate reductase (C677T thermolabile variant) using heteroduplex technology [Technical Brief]. Clinical Chemistry 44(11), pp. 2360-2362.
- Howarth, A. and Bowen, D. J. 1998. Linkage analysis in haemophilia A: simultaneous genotyping of two polymorphisms of the human factor VIII gene using induced heteroduplex formation. Haemophilia 4(6), pp. 812-819. (10.1046/j.1365-2516.1998.00202.x)
- Bowen, D. J., Standen, G. R., Mazurier, C., Gaucher, C., Cumming, A., Keeney, S. and Bidwell, J. 1998. Type 2N von Willebrand Disease: Rapid Genetic Diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F) – Detection of a Novel Candidate Type 2N Mutation: C2810T (R854W). Thrombosis and Haemostasis 80(1), pp. 32-36.
- Culpan, D., Goodeve, A., Bowen, D. J., Standen, G. and Bidwell, J. 1998. Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis. Clinical and Laboratory Haematology 20(3), pp. 177-178. (10.1046/j.1365-2257.1998.00111.x)
- Bowen, D. J., Bowley, S., John, M. and Collins, P. W. 1998. Factor V Leiden (G1691A), the Prothrombin 3’-Untranslated Region Variant (G20210A) and Thermolabile Methylenetetra-hydrofolate Reductase (C677T): A Single Genetic Test Genotypes all Three Loci – Determination of Frequencies in the S. Wales Population. Thrombosis and Haemostasis 79(5), pp. 949-954.
- Jackson, H. A., Bowen, D. J. and Worwood, M. 1997. Rapid genetic screening for haemochromatosis using heteroduplex technology. British Journal of Haematology 98(4), pp. 856-859. (10.1046/j.1365-2141.1997.3193136.x)
- Bowen, D. J. and Standen, G. 1997. Genetic detection of factor V Leiden: the question of specificity [Letter]. British Journal of Haematology 97(3), pp. 691-692.
- Bowen, D. J., Standen, G. R., Granville, S., Bowley, S., Wood, N. A. and Bidwell, J. 1997. Genetic diagnosis of factor V Leiden using heteroduplex technology. Thrombosis and Haemostasis 77(1), pp. 119-122.
- Aslam, S., Bowen, D. J., Mandalaki, T., Gialeraki, R. and Standen, G. R. 1996. Factor XIIIA subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the A subunit gene. American Journal of Hematology 53(2), pp. 77-80. (10.1002/(SICI)1096-8652(199610)53:2<77::AID-AJH4>3.0.CO;2-0)
- Bowen, D. J. and Hampton, K. K. 1996. Analysis of the BglI restriction fragment length polymorphism in the human factor VIII gene using “virtual PCR”– a novel approach employing the polymerase chain reaction in the absence of sequence information for the locus. Human Genetics 98(2), pp. 219-222. (10.1007/s004390050195)
- Bowen, D. J., Raha-Chowdhury, R. and Worwood, M. 1996. A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis. Human Genetics 97(2), pp. 228-231. (10.1007/BF02265271)
- Wood, N. R., Standen, G. R., Bowen, D. J., Cumming, A., Lush, C., Lee, R. and Bidwell, J. 1996. UHG-based mutation screening in type 2B von Willebrand's disease: detection of a candidate mutation Ser547Phe. Thrombosis and Haemostasis 75(2), pp. 363-367.
- Evans, B. A. J., Bowen, D. J., Smith, P. J., Clayton, P. E. and Gregory, J. W. 1996. A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. Journal of Medical Genetics 33(2), pp. 143-147. (10.1136/jmg.33.2.143)
- Raha-Chowdhury, R. et al. 1995. New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Human Molecular Genetics 4(10), pp. 1869-1874. (10.1093/hmg/4.10.1869)
- Aslam, S., Poon, M., Yee, V. C., Bowen, D. J. and Standen, G. R. 1995. Factor XIIIA calgary: a candidate missense mutation (Leu667Pro) in the beta barrel 2 domain of the factor XIIIA subunit. British Journal of Haematology 91(2), pp. 452-457. (10.1111/j.1365-2141.1995.tb05321.x)
- Raha-Chowdhury, R., Bowen, D. J., Burnett, A. K. and Worwood, M. 1995. Allelic associations and homozygosity at loci from HLA-B to D6S299 in genetic haemochromatosis. Journal of Medical Genetics 32(6), pp. 446-452. (10.1136/jmg.32.6.446)
- Figueiredo, M. S., Bowen, D. J., Silva, W. A. and Zago, M. A. 1994. Factor IX gene haplotypes in Brazilian Blacks and characterization of unusual Ddel alleles. British Journal of Haematology 87(4), pp. 789-796. (10.1111/j.1365-2141.1994.tb06739.x)
- Worwood, M., Raha-Chowdhury, R., Dorak, M. T., Darke, C., Bowen, D. J. and Burnett, A. K. 1994. Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype. British Journal of Haematology 86(4), pp. 863-866. (10.1111/j.1365-2141.1994.tb04843.x)
- Standen, G. R. and Bowen, D. J. 1993. Factor XIII ABristol 1: detection of a nonsense mutation (Arg171→+stop codon) in factor XIII A subunit deficiency. British Journal of Haematology 85(4), pp. 769-772. (10.1111/j.1365-2141.1993.tb03221.x)
- Bowen, D. J., Thomas, P., Webb, C. E., Bignell, P., Peake, I. R. and Bloom, A. L. 1991. Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction. British Journal of Haematology 77(4), pp. 559-560. (10.1111/j.1365-2141.1991.tb08626.x)
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