Steward, Colin - University of Bristol - School of Cellular and Molecular Medicine

研究领域

Barth Syndrome Identification, development of diagnostic tests and improving management of transplant complications Identification of new or rare genetic diseases and areas of under-diagnosis

近期论文

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Steward, C.G., Newbury-Ecob, R.A., Hastings, R., Smithson, S.F., Tsai-Goodman, B., Quarrell, O.W., Kulik, W., Wanders, R., Pennock, M., Williams, M., Cresswell, J.L., Gonzalez, I.L., Brennan, P. (2010) Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenat. Diagn. 30(10), 970-976. Mansour, S., Connell, F., Steward, C., Ostergaard, P., Brice, G., Smithson, S., Lunt, P., Jeffery, S., Dokal, I., Vulliamy, T., Gibson, B., Hodgson, S., Cottrell, S., Kiely, L., Tinworth, L., Kalidas, K., Mufti, G., Cornish, J., Keenan, R., Mortimer, P., Murday, V. (2010) Lymphoedema Research Consortium. Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Am. J. Med. Genet. A. 152A(9), 2287-2296. Steward, C.G. (2010) Hematopoietic stem cell transplantation for osteopetrosis. Pediatr. Clin. North Am. 57(1), 171-180. Hastings, R., Steward, C., Tsai-Goodman, B., Newbury-Ecob, R. (2009) Dysmorphology of Barth syndrome. Clin. Dysmorphol. 18(4), 185-187. Houtkooper, R.H., Rodenburg, R.J., Thiels, C., van Lenthe, H., Stet, F., Poll-The, B.T., Stone, J.E., Steward, C.G., Wanders, R.J., Smeitink, J., Kulik, W., Vaz, F.M. (2009) Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. Anal. Biochem. 387(2), 230-237. Millar, M.R., Johnson, G., Wilks, M., Skinner, R., Stoneham, S., Pizer, B., Hemsworth, S., Fogarty, A., Steward, C.G., Gilbert, R. and Hennessy, E.M. (2008) Molecular diagnosis of vascular access device-associated infection in children being treated for cancer or leukaemia. Clin. Microbiol. Infect. 14(3), 213-220. Kulik, W., van Lenthe, H., Stet, F.S., Houtkooper, R.H., Kemp, H., Stone, J.E., Steward, C.G., Wanders, R.J. and Vaz, F.M. (2008) Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome. Clin. Chem. 54(2), 371-378. Marks, D.I., Khattry, N., Cummins, M., Goulden, N., Green, A., Harvey, J., Hunt, L.P., Keen, L., Robinson, S.P., Steward, C.G. and Cornish, J.M. (2006) Haploidentical stem cell transplantation for children with acute leukaemia. Br. J. Haematol. 134(2), 196-201. Watzinger, F., Lion, T., Steward, C. (2006) Eurochimerism consortium. The RSD code: proposal for a nomenclature of allelic configurations in STR-PCR-based chimerism testing after allogeneic stem cell transplantation. Leukemia 20(8), 1448-1452. Steward, C.G., Jarisch, A. (2005) Haemopoietic stem cell transplantation for genetic disorders. Arch. Dis. Child. 90(12), 1259-1263.