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6. A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. Guéguen P; Rouault K; Chen JM; Raguénès O; Fichou Y; Hardy E; Gobin E; Pan-Petesch B; Kerbiriou M; Trouvé P; Marcorelles P; Abgrall JF; Le Maréchal C; Férec C PLoS One; 2013; 8(9):e74728. PubMed ID: 24069336 [TBL] [Abstract][Full Text] [Related]
8. May-Hegglin anomaly: a rare cause of thrombocytopenia. Greinacher A; Bux J; Kiefel V; White JG; Mueller-Eckhardt C Eur J Pediatr; 1992 Sep; 151(9):668-71. PubMed ID: 1396928 [TBL] [Abstract][Full Text] [Related]
9. Failure to mobilize intracellular calcium in response to thrombin in a patient with familial thrombocytopathy characterized by macrothrombocytopenia and abnormal platelet membrane complexes. Parker RI; Bray GL; McKeown LP; White JG J Lab Clin Med; 1993 Oct; 122(4):441-9. PubMed ID: 8228559 [TBL] [Abstract][Full Text] [Related]
10. Genetic thrombocytopenia with autosomal dominant transmission: a review of 54 cases. Najean Y; Lecompte T Br J Haematol; 1990 Feb; 74(2):203-8. PubMed ID: 2317455 [TBL] [Abstract][Full Text] [Related]
11. Sustained thrombocytopenia in mice: serial studies of megakaryocytes and platelets. Stenberg PE; Levin J; Corash L Exp Hematol; 1990 Feb; 18(2):124-32. PubMed ID: 2303104 [TBL] [Abstract][Full Text] [Related]
12. The first Japanese family with Sebastian platelet syndrome. Tsurusawa M; Kawakami N; Sawada K; Kunishima S; Agata H; Fujimoto T Int J Hematol; 1999 Apr; 69(3):206-10. PubMed ID: 10222662 [TBL] [Abstract][Full Text] [Related]
13. Studies on a patient with thrombocytopenia, giant platelets and a platelet membrane glycoprotein Ib with reduced amount of sialic acid. Aakhus AM; Stavem P; Hovig T; Pedersen TM; Solum NO Br J Haematol; 1990 Mar; 74(3):320-9. PubMed ID: 2334639 [TBL] [Abstract][Full Text] [Related]
14. Autologous platelet kinetics in patients with severe thrombocytopenia: discrimination between disorders of production and destruction. Tomer A; Hanson SR; Harker LA J Lab Clin Med; 1991 Dec; 118(6):546-54. PubMed ID: 1744503 [TBL] [Abstract][Full Text] [Related]
15. A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction. Miyashita N; Onozawa M; Hayasaka K; Yamada T; Migita O; Hata K; Okada K; Goto H; Nakagawa M; Hashimoto D; Kahata K; Kondo T; Kunishima S; Teshima T Ann Hematol; 2018 Apr; 97(4):629-640. PubMed ID: 29380037 [TBL] [Abstract][Full Text] [Related]
16. The Wistar Furth rat: an animal model of hereditary macrothrombocytopenia. Jackson CW; Hutson NK; Steward SA; Ashmun RA; Davis DS; Edwards HH; Rehg JE; Dockter ME Blood; 1988 Jun; 71(6):1676-86. PubMed ID: 3285908 [TBL] [Abstract][Full Text] [Related]
17. Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia I ultrastructure. White JG; Nichols WL; Steensma DP Platelets; 2007 Jun; 18(4):273-83. PubMed ID: 17538848 [TBL] [Abstract][Full Text] [Related]
18. Bernard-Soulier syndrome: quantitative characterization of megakaryocytes and platelets by flow cytometric and platelet kinetic measurements. Tomer A; Scharf RE; McMillan R; Ruggeri ZM; Harker LA Eur J Haematol; 1994 Apr; 52(4):193-200. PubMed ID: 8005229 [TBL] [Abstract][Full Text] [Related]
19. Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Greinacher A; Nieuwenhuis HK; White JG Blut; 1990 Nov; 61(5):282-8. PubMed ID: 2176899 [TBL] [Abstract][Full Text] [Related]
20. Sebastian platelet syndrome: a hereditary macrothrombocytopenia. Rodriguez V; Nichols WL; Charlesworth JE; White JG Mayo Clin Proc; 2003 Nov; 78(11):1416-21. PubMed ID: 14601703 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]