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Page 1
Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms.
Cartwright A, Webster SJ, de Jong A, Dirven RJ, Bloomer LDS, Al-Buhairan AM, Budde U, Halldén C, Habart D, Goudemand J, Peake IR, Eikenboom JCJ, Goodeve AC, Hampshire DJ. Cartwright A, et al. Among authors: hampshire dj. Blood Adv. 2020 Jul 14;4(13):2979-2990. doi: 10.1182/bloodadvances.2018027813. Blood Adv. 2020. PMID: 32609846 Free PMC article.
von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.
Hickson N, Hampshire D, Winship P, Goudemand J, Schneppenheim R, Budde U, Castaman G, Rodeghiero F, Federici AB, James P, Peake I, Eikenboom J, Goodeve A; MCMDM-1VWD and ZPMCB-VWD study groups. Hickson N, et al. J Thromb Haemost. 2010 Sep;8(9):1986-93. doi: 10.1111/j.1538-7836.2010.03927.x. J Thromb Haemost. 2010. PMID: 20492463 Free PMC article.
Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort.
Hampshire DJ, Burghel GJ, Goudemand J, Bouvet LC, Eikenboom JC, Schneppenheim R, Budde U, Peake IR, Goodeve AC; EU-VWD and ZPMCB-VWD study groups. Hampshire DJ, et al. Haematologica. 2010 Dec;95(12):2163-5. doi: 10.3324/haematol.2010.027177. Epub 2010 Sep 17. Haematologica. 2010. PMID: 20851871 Free PMC article. No abstract available.
p.P2063S: a neutral VWF variant masquerading as a mutation.
Hampshire DJ, Goodeve AC. Hampshire DJ, et al. Ann Hematol. 2014 Mar;93(3):505-6. doi: 10.1007/s00277-013-1817-y. Epub 2013 Jun 18. Ann Hematol. 2014. PMID: 23775583 Free PMC article. No abstract available.
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E. Simeoni I, et al. Among authors: hampshire dj. Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15. Blood. 2016. PMID: 27084890 Free PMC article.
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