Search Results - "PEAKE, I. R."

Identification of novel FLT‐3 Asp835 mutations in adult acute myeloid leukaemia by Abu‐Duhier, F. M., Goodeve, A. C., Wilson, G. A., Care, R. S., Peake, I. R., Reilly, J. T.

“…Genomic DNA from 97 cases of adult de novo acute myeloid leukaemia (AML) was screened using polymerase chain reaction (PCR) and conformation‐sensitive gel…”
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FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group by ABU-DUHIER, F. M, GOODEVE, A. C, WILSON, G. A, GARI, M. A, PEAKE, I. R, REES, D. C, VANDENBERGHE, E. A, WINSHIP, P. R, REILLY, J. T

“…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…”
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Validation of a rapid test (VWF-LIA) for the quantitative determination of von Willebrand factor antigen in type 1 von Willebrand disease diagnosis within the European multicenter study MCMDM-1VWD by Castaman, G, Tosetto, A, Cappelletti, A, Goodeve, A, Federici, A.B, Batlle, J, Meyer, D, Goudemand, J, Eikenboom, J.C.J, Schneppenheim, R, Budde, U, Ingerslev, J, Lethagen, S, Hill, F, Peake, I.R, Rodeghiero, F

“…Abstract Background Accurate measurement of von Willebrand factor (VWF) is a critical requirement for the diagnosis of von Willebrand disease (VWD). Aim of the…”
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Management of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization by Pasi, K. J., Collins, P. W., Keeling, D. M., Brown, S. A., Cumming, A. M., Dolan, G. C., Hay, C. R. M., Hill, F. G. H., Laffan, M., Peake, I. R.

“…von Willebrand disease (VWD) is the commonest inherited bleeding disorder. The aim of therapy for VWD is to correct the two defects of haemostasis in this…”
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The diagnosis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization by Laffan, M., Brown, S. A., Collins, P. W., Cumming, A. M., Hill, F. G. H., Keeling, D., Peake, I. R., Pasi, K. J.

“…von Willebrand disease (VWD) is the commonest inherited bleeding disorder. However, despite an increasing understanding of the pathophysiology of VWD, the…”
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Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis by Williams, I J, Abuzenadah, A, Winship, P R, Preston, F E, Dolan, G, Wright, J, Peake, I R, Goodeve, A C

“…Causative mutations in the factor VIII gene of seven unrelated patients with severe haemophilia A were identified using the mutation screening procedure…”
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Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor by SADLER, J. E., BUDDE, U., EIKENBOOM, J. C. J., FAVALORO, E. J., HILL, F. G. H., HOLMBERG, L., INGERSLEV, J., LEE, C. A., LILLICRAP, D., MANNUCCI, P. M., MAZURIER, C., MEYER, D., NICHOLS, W. L., NISHINO, M., PEAKE, I. R., RODEGHIERO, F., SCHNEPPENHEIM, R., RUGGERI, Z. M., SRIVASTAVA, A., MONTGOMERY, R. R., FEDERICI, A. B.

“…von Willebrand disease (VWD) is a bleeding disorder caused by inherited defects in the concentration, structure, or function of von Willebrand factor (VWF)…”
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Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S by Makris, Michael, Leach, Michael, Beauchamp, Nick J., Daly, Martina E., Cooper, Peter C., Hampton, Kingsley K., Bayliss, Pauline, Peake, Ian R., Miller, George J., Preston, F. Eric

“…Protein S deficiency is a recognized risk factor for venous thrombosis. Of all the inherited thrombophilic conditions, it remains the most difficult to…”
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Antithrombins Wibble and Wobble (T85M/K) : Archetypal conformational diseases with in vivo latent-transition, thrombosis, and heparin activation by BEAUCHAMP, N. J, PIKE, R. N, CARRELL, R. W, DALY, M, BUTLER, L, MAKRIS, M, DAFFORN, T. R, ZHOU, A, FITTON, H. L, PRESTON, F. E, PEAKE, I. R

“…The inherent variability of conformational diseases is demonstrated by two families with different mutations of the same conserved aminoacid in antithrombin…”
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Co-inheritance of the 20210A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia by Makris, M, Preston, F E, Beauchamp, N J, Cooper, P C, Daly, M E, Hampton, K K, Bayliss, P, Peake, I R, Miller, G J

“…The presence of the 20210A allele of the prothrombin (PT) gene has recently been shown to be a risk factor for venous thromboembolism. This is probably…”
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Genomic structure of human FLT3: implications for mutational analysis by Abu‐Duhier, F. M., Goodeve, A. C., Wilson, G. A., Care, R. S., Peake, I. R., Reilly, J. T.

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Genetic testing for von Willebrand disease: the case for by PEAKE, I. R., GOODEVE, A. C.

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In silico analysis highlights the copy number variation mechanism responsible for the historically reported VWF exon 42 deletion by Cartwright, A., Peake, I. R., Goodeve, A. C., Hampshire, D. J.

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Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency--partial/complete deletions and rearrangement of the antithrombin gene by Beauchamp, N J, Makris, M, Preston, F E, Peake, I R, Daly, M E

“…The molecular basis of quantitative antithrombin deficiency was investigated in four families predicted to have major antithrombin gene rearrangements. A 1,442…”
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A framework for genetic service provision for haemophilia and other inherited bleeding disorders by Ludlam, C. A., Pasi, K. J., Bolton-Maggs, P., Collins, P. W., Cumming, A. M., Dolan, G., Fryer, A., Harrington, C., Hill, F. G. H., Peake, I. R., Perry, D. J., Skirton, H., Smith, M.

“…This framework document offers guidance to patients, doctors, nurses, laboratory scientists, funders and hospitals on the provision of clinical and laboratory…”
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A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis by Hinks, J. L., Winship, P. R., Makris, M., Preston, F. E., Peake, I. R., Goodeve, A. C.

“…Conformation sensitive gel electrophoresis (CSGE) was confirmed as an effective procedure for screening the factor IX (FIX) gene by detecting 10/10 previously…”
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Are aberrant BCR-ABL transcripts more common than previously thought? by WILSON, G. A, VANDENBERGHE, E. A, POLLITT, R. C, REES, D. C, GOODEVE, A. C, PEAKE, I. R, REILLY, J. T

“…We report the use of multiplex polymerase chain reaction (PCR), using 4% polyacrylamide gel electrophoresis (PAGE) for the detection of BCR-ABL transcripts in…”
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Two novel type 2N von Willebrand disease–causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor by Allen, Simon, Abuzenadah, Adel M., Blagg, Joanna L., Hinks, Joanna, Nesbitt, I. Mandy, Goodeve, Anne C., Gursel, Turkiz, Ingerslev, Jørgen, Peake, Ian R., Daly, Martina E.

“…Two novel mutations, a T-to-C transition at nucleotide 2612 and a T-to-G transversion at nucleotide 3923 of the von Willebrand factor (vWF) complementary DNA,…”
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Mutations in PTPN11 are uncommon in adult myelodysplastic syndromes and acute myeloid leukaemia by Johan, M. F., Bowen, D. T., Frew, M. E., Goodeve, A. C., Wilson, G. A., Peake, I. R., Reilly, J. T.

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Influence of the −675 4G/5G dimorphism of the plasminogen activator inhibitor 1 promoter on thrombotic risk in patients with factor V Leiden by Visanji, J. M., Seargent, J., Tahri, D., Croft, S. A., Makris, M., Preston, F. E., Peake, I. R., Daly, M. E.

“…Elevated plasminogen activator inhibitor 1 (PAI‐1) levels are associated with venous thromboembolism, although their significance is unclear. PAI‐1 levels are…”
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