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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone P, Breuning MH, Debili N, Deloukas P, Favier R, Fiedler J, Hobbs CM, Huang N, Hurles ME, Kiddle G, Krapels I, Nurden P, Ruivenkamp CA, Sambrook JG, Smith K, Stemple DL, Strauss G, Thys C, van Geet C, Newbury-Ecob R, Ouwehand WH, Ghevaert C. Albers CA, et al. Among authors: smethurst pa. Nat Genet. 2012 Feb 26;44(4):435-9, S1-2. doi: 10.1038/ng.1083. Nat Genet. 2012. PMID: 22366785 Free PMC article.
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: smethurst pa. 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.
Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populations by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms.
Watkins NA, O'Connor MN, Rankin A, Jennings N, Wilson E, Harmer IJ, Davies L, Smethurst PA, Dudbridge F, Farndale RW, Ouwehand WH. Watkins NA, et al. Among authors: smethurst pa. J Thromb Haemost. 2006 Jun;4(6):1197-205. doi: 10.1111/j.1538-7836.2006.01937.x. J Thromb Haemost. 2006. PMID: 16706959 Free article.
Collagen-mimetic peptides mediate flow-dependent thrombus formation by high- or low-affinity binding of integrin alpha2beta1 and glycoprotein VI.
Munnix IC, Gilio K, Siljander PR, Raynal N, Feijge MA, Hackeng TM, Deckmyn H, Smethurst PA, Farndale RW, Heemskerk JW. Munnix IC, et al. Among authors: smethurst pa. J Thromb Haemost. 2008 Dec;6(12):2132-42. doi: 10.1111/j.1538-7836.2008.03167.x. Epub 2008 Sep 29. J Thromb Haemost. 2008. PMID: 18826391 Free article.
Selective blockade of glycoprotein VI clustering on collagen helices.
O'Connor MN, Smethurst PA, Davies LW, Joutsi-Korhonen L, Onley DJ, Herr AB, Farndale RW, Ouwehand WH. O'Connor MN, et al. Among authors: smethurst pa. J Biol Chem. 2006 Nov 3;281(44):33505-10. doi: 10.1074/jbc.M606480200. Epub 2006 Sep 6. J Biol Chem. 2006. PMID: 16956881 Free article.
The low-frequency allele of the platelet collagen signaling receptor glycoprotein VI is associated with reduced functional responses and expression.
Joutsi-Korhonen L, Smethurst PA, Rankin A, Gray E, IJsseldijk M, Onley CM, Watkins NA, Williamson LM, Goodall AH, de Groot PG, Farndale RW, Ouwehand WH. Joutsi-Korhonen L, et al. Among authors: smethurst pa. Blood. 2003 Jun 1;101(11):4372-9. doi: 10.1182/blood-2002-08-2591. Epub 2003 Jan 30. Blood. 2003. PMID: 12560230 Free article.
47 results