Eight novel ADAMTS13 missense mutations in childhood and adult onset congenital TTP

Thrombotic thrombocytopenic purpura and pregnancy: presentation, management, and subsequent pregnancy outcomes
Scully, M., Thomas, M., Underwood, M., Watson, H., Langley, K., Camilleri, R., Clark, A., Creagh, D., Rayment, R., McDonald, V., Roy, A., Evans, G., McGuckin, S., Ni Ainle, F., Maclean, R., Lester, W., Nash, M., Scott, R. and O Brien P; collaborators of the UK TTP Registry 2014. Thrombotic thrombocytopenic purpura and pregnancy: presentation, management, and subsequent pregnancy outcomes. Blood. 124 (2), pp. 211-219. https://doi.org/10.1182/blood-2014-02-553131

A phenotype–genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom
Camilleri, R., Scully, M., Thomas, M., Mackie, I.J., Liesner, R., Chen, W., Manns, K. and Machin, S.J. 2012. A phenotype–genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom. Journal of Thrombosis and Haemostasis. 10 (9), pp. 1792-1801. https://doi.org/10.1111/j.1538-7836.2012.04852.x

ADAMTS-13 deficiency: can it cause chronic renal failure?
Bramham, K., Hilton, R., Horsfield, C., McDonald, V., Camilleri, R. and Hunt, B.J. 2011. ADAMTS-13 deficiency: can it cause chronic renal failure? Nephrology, Dialysis, Transplantation. 26 (2), pp. 742-744. https://doi.org/10.1093/ndt/gfq644

Thrombotic thrombocytopenic purpura (TTP) and pregnancy in the UK: identification of subtype, management and outcome of subsequent pregnancies
Thomas, M., Camilleri, R., Machin, S.J., Clark, A., Creagh, D., Evans, G. and Scully, M. 2011. Thrombotic thrombocytopenic purpura (TTP) and pregnancy in the UK: identification of subtype, management and outcome of subsequent pregnancies. British society for haemostasis and thrombosis (BSHT) scientific meeting. Brighton, UK

Thrombotic Thrombocytopenic Purpura (TTP) and pregnancy in the UK: indentification of subtype, manangement and outcome of subsequent pregnancies
Thomas, M., Camilleri, R., Machin, S.J., Clark, A., Creagh, D., Evans, G. and Scully, M. 2011. Thrombotic Thrombocytopenic Purpura (TTP) and pregnancy in the UK: indentification of subtype, manangement and outcome of subsequent pregnancies. XXIIIrd Congress of the International Society on Thrombosis and Haemostasis (ISTH),. Kyoto, Japan

Phenotype-genotype correlation in congenital TTP
Camilleri, R., Mackie, I.J., Liesner, R., Chen, W., Manns, K., Machin, S.J. and Scully, M. 2009. Phenotype-genotype correlation in congenital TTP. British Society for Haemostasis and Thrombosis, Scientific Meeting. Newcastle https://doi.org/10.1080/09537100903170182

Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura
Camilleri, R., Cohen, H., Mackie, I.J., Skully, M., Starke, R.D., Crawley, J.T.B., Lane, D.A. and Machin, S.J. 2008. Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura. Journal of Thrombosis and Haemostasis. 6 (2), pp. 331-338. https://doi.org/10.1111/j.1538-7836.2008.02846.x

Three interesting cases demonstrating the continued heterogeneity of ADAMTS13 abnormalities
Camilleri, R., Mackie, I.J., Liesner, R., Chen, W., Manns, K., Hunt, B.J., Machin, S.J. and Scully, M. 2008. Three interesting cases demonstrating the continued heterogeneity of ADAMTS13 abnormalities. British Society for Haemostasis & Thrombosis Annual Meeting. Nottingham, UK.

Six adult onset TTP patients with several ADAMTS13 polymorphisms and a missense mutation (R1060W) that exhibits defective secretion in vitro
Camilleri, R., Cohen, H., Mackie, I.J., Scully, M., Starke, R.D., Crawley, J.T.B., Lane, D.A. and Machin, S.J. 2007. Six adult onset TTP patients with several ADAMTS13 polymorphisms and a missense mutation (R1060W) that exhibits defective secretion in vitro. XXIst Congress of the International Society on Thrombosis and Haemostasis. Geneva, Switzerland

The ADAMTS13 missense mutant R1060W, found in six patients with adult onset TTP, exhibits a secretion defect in vitro
Camilleri, R., Mackie, I.J., Scully, M., Starke, R.D., Crawley, J.T.B., Lane, D.A., Machin, S.J. and Cohen, H. 2006. The ADAMTS13 missense mutant R1060W, found in six patients with adult onset TTP, exhibits a secretion defect in vitro. British society for haemostasis and thrombosis (BSHT) scientific meeting. Jersey, UK

A novel mutation in the ADAMTS13 gene of patients with adult onset TTP
Camilleri, R., Mackie, I.J., Scully, M., Machin, S.J. and Cohen, H. 2005. A novel mutation in the ADAMTS13 gene of patients with adult onset TTP. British society for haemostasis and thrombosis (BSHT) scientific meeting. Chester, UK

A genetic basis for adult onset TTP?
Camilleri, R., Mackie, I.J., Scully, M., Machin, S.J. and Cohen, H. 2005. A genetic basis for adult onset TTP? American society of haematology 47th annual meeting. Atlanta, Georgia, USA.

ADAMTS13 gene mutations and polymorphisms in acquired thrombotic thrombocytopenic purpura (TTP) patients
Camilleri, R., Mackie, I.J., Scully, M., Machin, S.J. and Cohen, H. 2005. ADAMTS13 gene mutations and polymorphisms in acquired thrombotic thrombocytopenic purpura (TTP) patients. XXth Congress of the international society on thrombosis and haemostasis. Sydney, Australia

No association between pulmonary embolism or deep vein thrombosis and the –455G/A β-fibrinogen gene polymorphism
Camilleri, R. and Cohen, H. 2005. No association between pulmonary embolism or deep vein thrombosis and the –455G/A β-fibrinogen gene polymorphism. Blood Coagulation & Fibrinolysis. 16 (3), pp. 193-198.

The anticardiolipin assay is required for sensitive screening for antiphospholipid antibodies
Nash, M.J., Camilleri, R., Kunka, S., Mackie, I.J., Machin, S.J. and Cohen, H. 2004. The anticardiolipin assay is required for sensitive screening for antiphospholipid antibodies. Journal of Thrombosis and Haemostasis. 2 (7), pp. 1077-1081. https://doi.org/10.1111/j.1538-7836.2004.00810.x

–455G/A β-fibrinogen gene polymorphism, factor V Leiden, prothrombin G20210A mutation and MTHFR C677T, and placental vascular complications
Camilleri, R., Peebles, D., Portmann, C., Everington, T. and Cohen, H. 2004. –455G/A β-fibrinogen gene polymorphism, factor V Leiden, prothrombin G20210A mutation and MTHFR C677T, and placental vascular complications. Blood Coagulation & Fibrinolysis. 15 (2), pp. 139-147.

ADAMTS13 gene mutations and polymorphisms in thrombotic thrombocytopenic purpura patients
Camilleri, R., Mackie, I.J. and Cohen, H. 2004. ADAMTS13 gene mutations and polymorphisms in thrombotic thrombocytopenic purpura patients. British society for haemostasis and thrombosis (BSHT) scientific meeting. Edinburgh, UK

Lack of association of β2-glycoprotein I polymorphisms Val247Leu and Trp316Ser with antiphospholipid antibodies in patients with thrombosis and pregnancy complications
Camilleri, R., Mackie, I.J., Humphries, S.E., Machin, S.J. and Cohen, H. 2003. Lack of association of β2-glycoprotein I polymorphisms Val247Leu and Trp316Ser with antiphospholipid antibodies in patients with thrombosis and pregnancy complications. British Journal of Haematology. 120 (6), pp. 1066-1072. https://doi.org/10.1046/j.1365-2141.2003.04187.x

Paradoxical association between the 316 Trp to Ser beta 2-glycoprotein I (Beta2GPI) polymorphism and anti-Beta2GPI antibodies
Nash, M.J., Camilleri, R., Liesner, R., Mackie, I.J., Machin, S.J. and Cohen, H. 2003. Paradoxical association between the 316 Trp to Ser beta 2-glycoprotein I (Beta2GPI) polymorphism and anti-Beta2GPI antibodies. British Journal of Haematology. 120 (3), pp. 529-531. https://doi.org/10.1046/j.1365-2141.2003.04130.x

A proposed ISTH revised classification for the antiphospholipid syndrome
Nash, M.J., Camilleri, R., Kunka, S., Mackie, I.J., Machin, S.J. and Cohen, H. 2003. A proposed ISTH revised classification for the antiphospholipid syndrome. XIXth Congress of the International Society on Thrombosis and Haemostasis (ISTH),. Birmingham, UK

Reduction in stillbirth and IUGR with aspirin +/- low molecular weight heparin treatment in pregnancy
Everington, T., Peebles, D., Camilleri, R., Maguire, N. and Cohen, H. 2003. Reduction in stillbirth and IUGR with aspirin +/- low molecular weight heparin treatment in pregnancy. XIXth Congress of the International Society on Thrombosis and Haemostasis (ISTH),. Birmingham, UK

Venous thromboembolism and the –455G/A β-fibrinogen gene polymorphism
Camilleri, R. and Cohen, H. 2003. Venous thromboembolism and the –455G/A β-fibrinogen gene polymorphism. XIXth Congress of the International Society on Thrombosis and Haemostasis (ISTH),. Birmingham, UK

–455G/A β-fibrinogen gene polymorphism and venous thromboembolism
Camilleri, R. and Cohen, H. 2003. –455G/A β-fibrinogen gene polymorphism and venous thromboembolism. 43rd annual scientific meeting, British society for haematology (BSH). Glasgow, UK

The expression of prion protein by endothelial cells: a source of the plasma form of prion protein?
Starke, R., Drummond, O., MacGregor, I., Biggerstaff, J., Gale, R., Camilleri, R., Mackie, I.J., Machin, S.J. and Harrison, P. 2002. The expression of prion protein by endothelial cells: a source of the plasma form of prion protein? British Journal of Haematology. 119 (3), pp. 863-873. https://doi.org/10.1046/j.1365-2141.2002.03847.x

Ser316Ser β2-glycoprotein I variant with reduced binding to phospholipid associated with anti-β2-glycoprotein I antibodies in a patient with pregnancy complications
Camilleri, R., Nash, M.J., Liesner, R., Mackie, I.J., Machin, S.J. and Cohen, H. 2002. Ser316Ser β2-glycoprotein I variant with reduced binding to phospholipid associated with anti-β2-glycoprotein I antibodies in a patient with pregnancy complications. 10th International congress on antiphospholipid antibodies. Taormina, Sicily, Italy

Placental vascular complications and the G-455A β-fibrinogen gene polymorphism
Portmann, C., Camilleri, R., Peebles, D. and Cohen, H. 2001. Placental vascular complications and the G-455A β-fibrinogen gene polymorphism. XVIIIth Congress of the international society on thrombosis and haemostasis (ISTH). Paris, France

Clinical significance of β2-glycoprotein I polymorphisms Val247Leu and Trp316Ser in an antiphospholipid syndrome (APS) population
Camilleri, R., Al-Mulla, N., Mackie, I.J., Humphries, S.E. and Cohen, H. 2001. Clinical significance of β2-glycoprotein I polymorphisms Val247Leu and Trp316Ser in an antiphospholipid syndrome (APS) population. British society for haemostasis and thrombosis (BSHT) scientific meeting. Bath, UK

Lack of a protective effect of the β2-glycoprotein I Trp316Ser polymorphism on the development of primary antiphospholipid syndrome
Camilleri, R., Al-Mulla, N., Mackie, I.J. and Cohen, H. 2001. Lack of a protective effect of the β2-glycoprotein I Trp316Ser polymorphism on the development of primary antiphospholipid syndrome. XVIIIth Congress of the international society on thrombosis and haemostasis (ISTH). Paris, France

Clinical significance of β2-glycoprotein I polymorphisms Trp316Ser and Val247Leu in a PAPS population
Camilleri, R., Al-Mulla, N., Mackie, I.J. and Cohen, H. 2001. Clinical significance of β2-glycoprotein I polymorphisms Trp316Ser and Val247Leu in a PAPS population. European forum for antiphospholipid antibodies. Utrecht, Netherlands

The β2-glycoprotein I Trp316Ser polymorphism does not protect against the development of primary antiphospholipid syndrome
Camilleri, R., Al-Mulla, N., Mackie, I.J. and Cohen, H. 2001. The β2-glycoprotein I Trp316Ser polymorphism does not protect against the development of primary antiphospholipid syndrome. 41st Annual Scientific Meeting, British society for haematology (BSH). Harrogate, UK