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Page 1
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: balduini cl. Hum Mutat. 2014 Sep;35(9):1033-45. doi: 10.1002/humu.22607. Epub 2014 Jul 15. Hum Mutat. 2014. PMID: 24934643 Review.
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: balduini cl. Hum Mutat. 2008 Mar;29(3):409-17. doi: 10.1002/humu.20661. Hum Mutat. 2008. PMID: 18059020
Genetics of familial forms of thrombocytopenia.
Balduini CL, Savoia A. Balduini CL, et al. Hum Genet. 2012 Dec;131(12):1821-32. doi: 10.1007/s00439-012-1215-x. Epub 2012 Aug 11. Hum Genet. 2012. PMID: 22886561 Review.
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: balduini cl. Haematologica. 2013 Jun;98(6):868-74. doi: 10.3324/haematol.2012.075861. Epub 2012 Oct 25. Haematologica. 2013. PMID: 23100277 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: balduini cl. 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.
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: balduini cl. 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.
Inherited thrombocytopenias: molecular mechanisms.
Balduini CL, Savoia A. Balduini CL, et al. Semin Thromb Hemost. 2004 Oct;30(5):513-23. doi: 10.1055/s-2004-835672. Semin Thromb Hemost. 2004. PMID: 15497094 Review.
300 results