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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
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.
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.
Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J. Noetzli L, et al. Among authors: balduini c. Nat Genet. 2015 May;47(5):535-538. doi: 10.1038/ng.3253. Epub 2015 Mar 25. Nat Genet. 2015. PMID: 25807284 Free PMC article.
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Noris P, Ramenghi U, Loffredo G, Fabris F, Momi S, Magrini U, Pirastu M, Savoia A, Balduini C, Gresele P; Italian Registry for MYH9-releated diseases. Pecci A, et al. Among authors: balduini c. PLoS One. 2012;7(4):e35986. doi: 10.1371/journal.pone.0035986. Epub 2012 Apr 25. PLoS One. 2012. PMID: 22558294 Free PMC article.
359 results