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Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA. Seri M, et al. Among authors: balduini cl. Nat Genet. 2000 Sep;26(1):103-5. doi: 10.1038/79063. Nat Genet. 2000. PMID: 10973259
Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano.
Balduini A, Malara A, Pecci A, Badalucco S, Bozzi V, Pallotta I, Noris P, Torti M, Balduini CL. Balduini A, et al. Among authors: balduini cl. J Thromb Haemost. 2009 Mar;7(3):478-84. doi: 10.1111/j.1538-7836.2008.03255.x. Epub 2008 Dec 4. J Thromb Haemost. 2009. PMID: 19067792 Free article.
Diagnosis and management of inherited thrombocytopenias.
Balduini CL, Pecci A, Noris P. Balduini CL, et al. Semin Thromb Hemost. 2013 Mar;39(2):161-71. doi: 10.1055/s-0032-1333540. Epub 2013 Feb 8. Semin Thromb Hemost. 2013. PMID: 23397552 Review.
Inherited thrombocytopenias: the evolving spectrum.
Balduini CL, Pecci A, Noris P. Balduini CL, et al. Hamostaseologie. 2012;32(4):259-70. doi: 10.5482/ha12050001. Epub 2012 Sep 13. Hamostaseologie. 2012. PMID: 22972471 Review.
234 results