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Page 1
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.
CD4+ T-cell clones specific for wild-type factor VIII: a molecular mechanism responsible for a higher incidence of inhibitor formation in mild/moderate hemophilia A.
Jacquemin M, Vantomme V, Buhot C, Lavend'homme R, Burny W, Demotte N, Chaux P, Peerlinck K, Vermylen J, Maillere B, van der Bruggen P, Saint-Remy JM. Jacquemin M, et al. Among authors: peerlinck k. Blood. 2003 Feb 15;101(4):1351-8. doi: 10.1182/blood-2002-05-1369. Epub 2002 Oct 17. Blood. 2003. PMID: 12393451 Free 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 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.
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: peerlinck k. 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.
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.
The factor VIII treatment history of non-severe hemophilia A.
Abdi A, Kloosterman FR, Eckhardt CL, Male C, Castaman G, Fischer K, Beckers EAM, Kruip MJHA, Peerlinck K, Mancuso ME, Santoro C, Hay CR, Platokouki H, van der Bom JG, Gouw SC, Fijnvandraat K, Hart DP; INSIGHT Study Group. Abdi A, et al. Among authors: peerlinck k. J Thromb Haemost. 2020 Dec;18(12):3203-3210. doi: 10.1111/jth.15076. Epub 2020 Sep 28. J Thromb Haemost. 2020. PMID: 32877570 Free PMC article.
Valoctocogene Roxaparvovec Gene Therapy for Hemophilia A.
Ozelo MC, Mahlangu J, Pasi KJ, Giermasz A, Leavitt AD, Laffan M, Symington E, Quon DV, Wang JD, Peerlinck K, Pipe SW, Madan B, Key NS, Pierce GF, O'Mahony B, Kaczmarek R, Henshaw J, Lawal A, Jayaram K, Huang M, Yang X, Wong WY, Kim B; GENEr8-1 Trial Group. Ozelo MC, et al. Among authors: peerlinck k. N Engl J Med. 2022 Mar 17;386(11):1013-1025. doi: 10.1056/NEJMoa2113708. N Engl J Med. 2022. PMID: 35294811 Clinical Trial.
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift A, Dorfmüller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, Treacy C, Yates K, Bogaard H, Church C, Coghlan G, Condliffe R, Corris PA, Gibbs S, Girerd B, Holden S, Humbert M, Kiely DG, Lawrie A, Machado R, MacKenzie Ross R, Moledina S, Montani D, Newnham M, Peacock A, Pepke-Zaba J, Rayner-Matthews P, Shamardina O, Soubrier F, Southgate L, Suntharalingam J, Toshner M, Trembath R, Vonk Noordegraaf A, Wilkins MR, Wort SJ, Wharton J; NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH; Gräf S, Morrell NW. Hadinnapola C, et al. Circulation. 2017 Nov 21;136(21):2022-2033. doi: 10.1161/CIRCULATIONAHA.117.028351. Epub 2017 Sep 28. Circulation. 2017. PMID: 28972005 Free PMC article.
191 results