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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: heller pg. Hum Mutat. 2008 Mar;29(3):409-17. doi: 10.1002/humu.20661. Hum Mutat. 2008. PMID: 18059020
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, Mumford A, Heller PG, Noris P, De Groot MR, Giani M, Freddi P, Scognamiglio F, Riondino S, Pujol-Moix N, Fabris F, Seri M, Balduini CL, Pecci A. Savoia A, et al. Among authors: heller pg. Thromb Haemost. 2010 Apr;103(4):826-32. doi: 10.1160/TH09-08-0593. Epub 2010 Feb 19. Thromb Haemost. 2010. PMID: 20174760
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: heller pg. 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.
MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations.
De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, Balduini CL, Savoia A, Pecci A. De Rocco D, et al. Among authors: heller pg. Eur J Med Genet. 2013 Jan;56(1):7-12. doi: 10.1016/j.ejmg.2012.10.009. Epub 2012 Oct 30. Eur J Med Genet. 2013. PMID: 23123319 Free PMC article.
Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp MC, Alessi MC, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux MF, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Savoia A, et al. Among authors: heller pg. Hum Mutat. 2014 Sep;35(9):1033-45. doi: 10.1002/humu.22607. Epub 2014 Jul 15. Hum Mutat. 2014. PMID: 24934643 Review.
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.
Noris P, Biino G, Pecci A, Civaschi E, Savoia A, Seri M, Melazzini F, Loffredo G, Russo G, Bozzi V, Notarangelo LD, Gresele P, Heller PG, Pujol-Moix N, Kunishima S, Cattaneo M, Bussel J, De Candia E, Cagioni C, Ramenghi U, Barozzi S, Fabris F, Balduini CL. Noris P, et al. Among authors: heller pg. Blood. 2014 Aug 7;124(6):e4-e10. doi: 10.1182/blood-2014-03-564328. Epub 2014 Jul 2. Blood. 2014. PMID: 24990887 Free PMC article.
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.
Bottega R, Pecci A, De Candia E, Pujol-Moix N, Heller PG, Noris P, De Rocco D, Podda GM, Glembotsky AC, Cattaneo M, Balduini CL, Savoia A. Bottega R, et al. Among authors: heller pg. Haematologica. 2013 Jun;98(6):868-74. doi: 10.3324/haematol.2012.075861. Epub 2012 Oct 25. Haematologica. 2013. PMID: 23100277 Free PMC article.
68 results