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Page 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: peerlinck k. 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.
Deletion of alanine 2201 in the FVIII C2 domain results in mild hemophilia A by impairing FVIII binding to VWF and phospholipids and destroys a major FVIII antigenic determinant involved in inhibitor development.
d'Oiron R, Lavergne JM, Lavend'homme R, Benhida A, Bordet JC, Negrier C, Peerlinck K, Vermylen J, Saint-Remy JM, Jacquemin M. d'Oiron R, et al. Among authors: peerlinck k. Blood. 2004 Jan 1;103(1):155-7. doi: 10.1182/blood-2003-04-1321. Epub 2003 Sep 11. Blood. 2004. PMID: 12969981 Free article.
Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia A.
Eckhardt CL, van Velzen AS, Peters M, Astermark J, Brons PP, Castaman G, Cnossen MH, Dors N, Escuriola-Ettingshausen C, Hamulyak K, Hart DP, Hay CR, Haya S, van Heerde WL, Hermans C, Holmström M, Jimenez-Yuste V, Keenan RD, Klamroth R, Laros-van Gorkom BA, Leebeek FW, Liesner R, Mäkipernaa A, Male C, Mauser-Bunschoten E, Mazzucconi MG, McRae S, Meijer K, Mitchell M, Morfini M, Nijziel M, Oldenburg J, Peerlinck K, Petrini P, Platokouki H, Reitter-Pfoertner SE, Santagostino E, Schinco P, Smiers FJ, Siegmund B, Tagliaferri A, Yee TT, Kamphuisen PW, van der Bom JG, Fijnvandraat K; INSIGHT Study Group. Eckhardt CL, et al. Among authors: peerlinck k. Blood. 2013 Sep 12;122(11):1954-62. doi: 10.1182/blood-2013-02-483263. Epub 2013 Aug 7. Blood. 2013. PMID: 23926300 Free article.
Transcriptional diversity during lineage commitment of human blood progenitors.
Chen L, Kostadima M, Martens JHA, Canu G, Garcia SP, Turro E, Downes K, Macaulay IC, Bielczyk-Maczynska E, Coe S, Farrow S, Poudel P, Burden F, Jansen SBG, Astle WJ, Attwood A, Bariana T, de Bono B, Breschi A, Chambers JC, Consortium B, Choudry FA, Clarke L, Coupland P, van der Ent M, Erber WN, Jansen JH, Favier R, Fenech ME, Foad N, Freson K, van Geet C, Gomez K, Guigo R, Hampshire D, Kelly AM, Kerstens HHD, Kooner JS, Laffan M, Lentaigne C, Labalette C, Martin T, Meacham S, Mumford A, Nürnberg S, Palumbo E, van der Reijden BA, Richardson D, Sammut SJ, Slodkowicz G, Tamuri AU, Vasquez L, Voss K, Watt S, Westbury S, Flicek P, Loos R, Goldman N, Bertone P, Read RJ, Richardson S, Cvejic A, Soranzo N, Ouwehand WH, Stunnenberg HG, Frontini M, Rendon A. Chen L, et al. Science. 2014 Sep 26;345(6204):1251033. doi: 10.1126/science.1251033. Science. 2014. PMID: 25258084 Free PMC article.
Factor VIII inhibitor: affinity is the clue.
Jacquemin M, Peerlinck K. Jacquemin M, et al. Among authors: peerlinck k. Blood. 2015 Feb 12;125(7):1056-8. doi: 10.1182/blood-2014-12-618991. Blood. 2015. PMID: 25678435 Free article. No abstract available.
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Westbury SK, Turro E, Greene D, Lentaigne C, Kelly AM, Bariana TK, Simeoni I, Pillois X, Attwood A, Austin S, Jansen SB, Bakchoul T, Crisp-Hihn A, Erber WN, Favier R, Foad N, Gattens M, Jolley JD, Liesner R, Meacham S, Millar CM, Nurden AT, Peerlinck K, Perry DJ, Poudel P, Schulman S, Schulze H, Stephens JC, Furie B, Robinson PN, van Geet C, Rendon A, Gomez K, Laffan MA, Lambert MP, Nurden P, Ouwehand WH, Richardson S, Mumford AD, Freson K; BRIDGE-BPD Consortium. Westbury SK, et al. Among authors: peerlinck k. Genome Med. 2015 Apr 9;7(1):36. doi: 10.1186/s13073-015-0151-5. eCollection 2015. Genome Med. 2015. PMID: 25949529 Free PMC article.
Free hemoglobin: a boost to platelet thrombi.
Jacquemin M, Peerlinck K. Jacquemin M, et al. Among authors: peerlinck k. Blood. 2015 Nov 12;126(20):2262-3. doi: 10.1182/blood-2015-09-667642. Blood. 2015. PMID: 26564905 Free article. No abstract available.
191 results