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Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, Greinacher A, Epstein CJ, Glucksman MJ, Martignetti JA. Heath KE, et al. Among authors: white jg. Am J Hum Genet. 2001 Nov;69(5):1033-45. doi: 10.1086/324267. Epub 2001 Oct 4. Am J Hum Genet. 2001. PMID: 11590545 Free PMC article.
May-Hegglin anomaly: a rare cause of thrombocytopenia.
Greinacher A, Bux J, Kiefel V, White JG, Mueller-Eckhardt C. Greinacher A, et al. Among authors: white jg. Eur J Pediatr. 1992 Sep;151(9):668-71. doi: 10.1007/BF01957570. Eur J Pediatr. 1992. PMID: 1396928
Fechtner syndrome: physiologic analysis of macrothrombocytopenia.
McBane RD, Elliott MA, White JG, Charlesworth JE, Costopoulos MG, Owen WG, Nichols WL. McBane RD, et al. Among authors: white jg. Blood Coagul Fibrinolysis. 2000 Apr;11(3):243-7. Blood Coagul Fibrinolysis. 2000. PMID: 10870804
Characterisation of the p.A1461D mutation causing von Willebrand disease type 2B with severe thrombocytopenia, circulating giant platelets, and defective α-granule secretion.
Langer F, Obser T, Oyen F, Spath B, Holstein K, Greinacher A, White JG, Budde U, Bokemeyer C, Schneppenheim R. Langer F, et al. Among authors: white jg. Thromb Haemost. 2014 Apr 1;111(4):777-9. doi: 10.1160/TH13-06-0462. Epub 2013 Dec 12. Thromb Haemost. 2014. PMID: 24337418 No abstract available.
Sebastian syndrome: case report and review of the literature.
Young G, Luban NL, White JG. Young G, et al. Among authors: white jg. Am J Hematol. 1999 May;61(1):62-5. doi: 10.1002/(sici)1096-8652(199905)61:1<62::aid-ajh11>3.0.co;2-a. Am J Hematol. 1999. PMID: 10331513 Free article. Review.
774 results