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Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.
Megy K, Downes K, Simeoni I, Bury L, Morales J, Mapeta R, Bellissimo DB, Bray PF, Goodeve AC, Gresele P, Lambert M, Reitsma P, Ouwehand WH, Freson K; Subcommittee on Genomics in Thrombosis and Hemostasis. Megy K, et al. Among authors: goodeve ac. J Thromb Haemost. 2019 Aug;17(8):1253-1260. doi: 10.1111/jth.14479. Epub 2019 Jun 9. J Thromb Haemost. 2019. PMID: 31179617 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: goodeve ac. 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.
Nomenclature of genetic variants in hemostasis.
Goodeve AC, Reitsma PH, McVey JH; Working Group on Nomenclature of the Scientific and Standardisation Committee of the International Society on Thrombosis and Haemostasis. Goodeve AC, et al. J Thromb Haemost. 2011 Apr;9(4):852-5. doi: 10.1111/j.1538-7836.2011.04191.x. J Thromb Haemost. 2011. PMID: 21595097 Free article. No abstract available.
Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States.
Flood VH, Christopherson PA, Gill JC, Friedman KD, Haberichter SL, Bellissimo DB, Udani RA, Dasgupta M, Hoffmann RG, Ragni MV, Shapiro AD, Lusher JM, Lentz SR, Abshire TC, Leissinger C, Hoots WK, Manco-Johnson MJ, Gruppo RA, Boggio LN, Montgomery KT, Goodeve AC, James PD, Lillicrap D, Peake IR, Montgomery RR. Flood VH, et al. Among authors: goodeve ac. Blood. 2016 May 19;127(20):2481-8. doi: 10.1182/blood-2015-10-673681. Epub 2016 Feb 9. Blood. 2016. PMID: 26862110 Free PMC article.
Genetic testing for von Willebrand disease: the case for.
Peake IR, Goodeve AC. Peake IR, et al. Among authors: goodeve ac. J Thromb Haemost. 2010 Jan;8(1):13-6. doi: 10.1111/j.1538-7836.2009.03670.x. Epub 2009 Oct 26. J Thromb Haemost. 2010. PMID: 19874454 Free article. No abstract available.
Genomics of bleeding disorders.
Goodeve AC, Pavlova A, Oldenburg J. Goodeve AC, et al. Haemophilia. 2014 May;20 Suppl 4(0 4):50-3. doi: 10.1111/hae.12424. Haemophilia. 2014. PMID: 24762275 Free PMC article. Review.
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.
136 results