Mumford AD - Search Results

1

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD; NIHR BioResource; Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro E. Sivapalaratnam S, et al. Among authors: mumford ad. Blood. 2017 Jan 26;129(4):520-524. doi: 10.1182/blood-2016-08-732248. Epub 2016 Nov 14. Blood. 2017. PMID: 28064200 Free PMC article.

2

Fibrinogen Bbeta14 Arg-->Cys: further evidence for a role in thrombosis.

Vakalopoulou S, Mille-Baker B, Mumford A, Manning R, Laffan M. Vakalopoulou S, et al. Blood Coagul Fibrinolysis. 1999 Oct;10(7):403-8. Blood Coagul Fibrinolysis. 1999. PMID: 10695765

3

A Tyr346-->Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy.

Mumford AD, Laffan M, O'Donnell J, McVey JH, Johnson DJ, Manning RA, Kemball-Cook G. Mumford AD, et al. Br J Haematol. 2002 Aug;118(2):589-94. doi: 10.1046/j.1365-2141.2002.03617.x. Br J Haematol. 2002. PMID: 12139751 Free article.

4

A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome.

Albrecht C, McVey JH, Elliott JI, Sardini A, Kasza I, Mumford AD, Naoumova RP, Tuddenham EG, Szabo K, Higgins CF. Albrecht C, et al. Among authors: mumford ad. Blood. 2005 Jul 15;106(2):542-9. doi: 10.1182/blood-2004-05-2056. Epub 2005 Mar 24. Blood. 2005. PMID: 15790791 Free article.

5

FEIBA prophylaxis in haemophilia patients: a clinical update and treatment recommendations.

Perry D, Berntorp E, Tait C, Dolan G, Holme PA, Laffan M, Lassila R, Mumford A, Pasi J, Wilde J, Will A, Yee TT. Perry D, et al. Haemophilia. 2010 Jan;16(1):80-9. doi: 10.1111/j.1365-2516.2009.02104.x. Epub 2009 Sep 23. Haemophilia. 2010. PMID: 19780845

6

A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis.

Mumford AD, Dawood BB, Daly ME, Murden SL, Williams MD, Protty MB, Spalton JC, Wheatley M, Mundell SJ, Watson SP. Mumford AD, et al. Blood. 2010 Jan 14;115(2):363-9. doi: 10.1182/blood-2009-08-236976. Epub 2009 Oct 14. Blood. 2010. PMID: 19828703 Free PMC article.

7

F8 and F9 mutations fail to co-segregate in a family with co-incident haemophilia A and B.

Siddiq S, Morse C, Goodeve A, Panayi M, Tait RC, Mumford A. Siddiq S, et al. Haemophilia. 2011 Jan;17(1):e230-4. doi: 10.1111/j.1365-2516.2010.02396.x. Epub 2010 Sep 22. Haemophilia. 2011. PMID: 20860608

8

An intact PDZ motif is essential for correct P2Y12 purinoceptor traffic in human platelets.

Nisar S, Daly ME, Federici AB, Artoni A, Mumford AD, Watson SP, Mundell SJ. Nisar S, et al. Among authors: mumford ad. Blood. 2011 Nov 17;118(20):5641-51. doi: 10.1182/blood-2011-02-336826. Epub 2011 Sep 21. Blood. 2011. PMID: 21937696 Free PMC article.

9

Guidelines on the investigation and management of antiphospholipid syndrome.

Keeling D, Mackie I, Moore GW, Greer IA, Greaves M; British Committee for Standards in Haematology. Keeling D, et al. Br J Haematol. 2012 Apr;157(1):47-58. doi: 10.1111/j.1365-2141.2012.09037.x. Epub 2012 Feb 8. Br J Haematol. 2012. PMID: 22313321 Free article. Review. No abstract available.

10

Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia.

Shapiro SE, Phillips E, Manning RA, Morse CV, Murden SL, Laffan MA, Mumford AD. Shapiro SE, et al. Among authors: mumford ad. Br J Haematol. 2013 Jan;160(2):220-7. doi: 10.1111/bjh.12085. Epub 2012 Oct 15. Br J Haematol. 2013. PMID: 23061815 Free article.

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