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MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A. Seri M, et al. Among authors: gresele p. Medicine (Baltimore). 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. Medicine (Baltimore). 2003. PMID: 12792306 Free article.
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, Gresele P, Lethagen S, Fabris F, Dufour C, Granata A, Doubek M, Pecoraro C, Koivisto PA, Heller PG, Iolascon A, Alvisi P, Schwabe D, De Candia E, Rocca B, Russo U, Ramenghi U, Noris P, Seri M, Balduini CL, Savoia A. Pecci A, et al. Among authors: gresele p. Hum Mutat. 2008 Mar;29(3):409-17. doi: 10.1002/humu.20661. Hum Mutat. 2008. PMID: 18059020
Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families.
Gresele P, Falcinelli E, Giannini S, D'Adamo P, D'Eustacchio A, Corazzi T, Mezzasoma AM, Di Bari F, Guglielmini G, Cecchetti L, Noris P, Balduini CL, Savoia A. Gresele P, et al. Haematologica. 2009 May;94(5):663-9. doi: 10.3324/haematol.2008.002246. Epub 2009 Mar 31. Haematologica. 2009. PMID: 19336737 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: gresele p. PLoS One. 2012;7(4):e35986. doi: 10.1371/journal.pone.0035986. Epub 2012 Apr 25. PLoS One. 2012. PMID: 22558294 Free PMC article.
Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study.
Noris P, Klersy C, Gresele P, Giona F, Giordano P, Minuz P, Loffredo G, Pecci A, Melazzini F, Civaschi E, Mezzasoma A, Piedimonte M, Semeraro F, Veneri D, Menna F, Ciardelli L, Balduini CL; Italian Gruppo di Studio delle Piastrine. Noris P, et al. Among authors: gresele p. Br J Haematol. 2013 Jul;162(1):112-9. doi: 10.1111/bjh.12349. Epub 2013 Apr 25. Br J Haematol. 2013. PMID: 23617394 Free PMC article.
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A. Pecci A, et al. Among authors: gresele p. Hum Mutat. 2014 Feb;35(2):236-47. doi: 10.1002/humu.22476. Epub 2013 Dec 12. Hum Mutat. 2014. PMID: 24186861 Free PMC article.
368 results