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Items: 1 to 50 of 113

1.

Eltrombopag for the treatment of inherited thrombocytopenias: a phase 2 clinical trial.

Zaninetti C, Gresele P, Bertomoro A, Klersy C, De Candia E, Veneri D, Barozzi S, Fierro T, Alberelli MA, Musella V, Noris P, Fabris F, Balduini CL, Pecci A.

Haematologica. 2019 Jul 4. pii: haematol.2019.223966. doi: 10.3324/haematol.2019.223966. [Epub ahead of print]

2.

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.

Marconi C, Di Buduo CA, LeVine K, Barozzi S, Faleschini M, Bozzi V, Palombo F, McKinstry S, Lassandro G, Giordano P, Noris P, Balduini CL, Savoia A, Balduini A, Pippucci T, Seri M, Katsanis N, Pecci A.

Blood. 2019 Mar 21;133(12):1346-1357. doi: 10.1182/blood-2018-07-859496. Epub 2018 Dec 27.

PMID:
30591527
3.

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.

Faleschini M, Melazzini F, Marconi C, Giangregorio T, Pippucci T, Cigalini E, Pecci A, Bottega R, Ramenghi U, Siitonen T, Seri M, Pastore A, Savoia A, Noris P.

Br J Haematol. 2018 Oct;183(2):276-288. doi: 10.1111/bjh.15531. Epub 2018 Oct 23.

PMID:
30351444
4.

Laboratory monitoring of P2Y12 inhibitors: communication from the SSC of the ISTH.

Frelinger AL 3rd, Gachet C, Mumford AD, Noris P, Mezzano D, Harrison P, Gresele P; Subcommittee on Platelet Physiology.

J Thromb Haemost. 2018 Nov;16(11):2341-2346. doi: 10.1111/jth.14282. Epub 2018 Oct 3. No abstract available.

PMID:
30284374
5.

MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.

Zaninetti C, De Rocco D, Giangregorio T, Bozzi V, Demeter J, Leoni P, Noris P, Ryhänen S, Barozzi S, Pecci A, Savoia A.

Hamostaseologie. 2019 Feb;39(1):87-94. doi: 10.1055/s-0038-1645840. Epub 2018 Jul 11.

PMID:
29996171
6.

Hereditary thrombocytopenias: a growing list of disorders.

Noris P, Pecci A.

Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):385-399. doi: 10.1182/asheducation-2017.1.385. Review.

7.

A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

Noris P, Marconi C, De Rocco D, Melazzini F, Pippucci T, Loffredo G, Giangregorio T, Pecci A, Seri M, Savoia A.

Br J Haematol. 2018 Jun;181(5):698-701. doi: 10.1111/bjh.14694. Epub 2017 May 3. No abstract available.

PMID:
28466964
8.

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders.

Orsini S, Noris P, Bury L, Heller PG, Santoro C, Kadir RA, Butta NC, Falcinelli E, Cid AR, Fabris F, Fouassier M, Miyazaki K, Lozano ML, Zúñiga P, Flaujac C, Podda GM, Bermejo N, Favier R, Henskens Y, De Maistre E, De Candia E, Mumford AD, Ozdemir GN, Eker I, Nurden P, Bayart S, Lambert MP, Bussel J, Zieger B, Tosetto A, Melazzini F, Glembotsky AC, Pecci A, Cattaneo M, Schlegel N, Gresele P; European Hematology Association - Scientific Working Group (EHA-SWG) on thrombocytopenias and platelet function disorders.

Haematologica. 2017 Jul;102(7):1192-1203. doi: 10.3324/haematol.2016.160754. Epub 2017 Apr 6.

9.

Mutations of RUNX1 in families with inherited thrombocytopenia.

De Rocco D, Melazzini F, Marconi C, Pecci A, Bottega R, Gnan C, Palombo F, Giordano P, Coccioli MS, Glembotsky AC, Heller PG, Seri M, Savoia A, Noris P.

Am J Hematol. 2017 Jun;92(6):E86-E88. doi: 10.1002/ajh.24703. Epub 2017 Mar 24. No abstract available.

10.

New roles for mean platelet volume measurement in the clinical practice?

Noris P, Melazzini F, Balduini CL.

Platelets. 2016 Nov;27(7):607-612. Epub 2016 Sep 30. Review.

PMID:
27686008
11.

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.

Melazzini F, Palombo F, Balduini A, De Rocco D, Marconi C, Noris P, Gnan C, Pippucci T, Bozzi V, Faleschini M, Barozzi S, Doubek M, Di Buduo CA, Kozubik KS, Radova L, Loffredo G, Pospisilova S, Alfano C, Seri M, Balduini CL, Pecci A, Savoia A.

Haematologica. 2016 Nov;101(11):1333-1342. Epub 2016 Jun 30.

12.

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia.

Marconi C, Di Buduo CA, Barozzi S, Palombo F, Pardini S, Zaninetti C, Pippucci T, Noris P, Balduini A, Seri M, Pecci A.

Thromb Haemost. 2016 May 2;115(5):1076-9. doi: 10.1160/TH15-11-0884. Epub 2016 Jan 14. No abstract available.

PMID:
26769223
13.

Innovation in the field of thrombocytopenias: achievements since the beginning of the century and promises for the future.

Balduini CL, Noris P.

Haematologica. 2016 Jan;101(1):2-4. doi: 10.3324/haematol.2015.138149. No abstract available.

14.

Inherited thrombocytopenias.

Balduini CL, Noris P.

Hematology. 2015 Jul;20(6):374-5. doi: 10.1179/1024533215Z.000000000374. No abstract available.

PMID:
26084367
15.

Particulate cytoplasmic structures with high concentration of ubiquitin-proteasome accumulate in myeloid neoplasms.

Pecci A, Necchi V, Barozzi S, Vitali A, Boveri E, Elena C, Bernasconi P, Noris P, Solcia E.

J Hematol Oncol. 2015 Jun 18;8:71. doi: 10.1186/s13045-015-0169-6.

16.

Personalized reference intervals for platelet count reduce the number of subjects with unexplained thrombocytopenia.

Zaninetti C, Biino G, Noris P, Melazzini F, Civaschi E, Balduini CL.

Haematologica. 2015 Sep;100(9):e338-40. doi: 10.3324/haematol.2015.127597. Epub 2015 May 8. No abstract available.

17.

Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders.

Civaschi E, Klersy C, Melazzini F, Pujol-Moix N, Santoro C, Cattaneo M, Lavenu-Bombled C, Bury L, Minuz P, Nurden P, Cid AR, Cuker A, Latger-Cannard V, Favier R, Nichele I, Noris P; European Haematology Association - Scientific Working Group on Thrombocytopenias and Platelet Function Disorders.

Br J Haematol. 2015 Aug;170(4):559-63. doi: 10.1111/bjh.13458. Epub 2015 Apr 21.

PMID:
25899604
18.

A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders.

Mumford AD, Frelinger AL 3rd, Gachet C, Gresele P, Noris P, Harrison P, Mezzano D.

Thromb Haemost. 2015 Jul;114(1):14-25. doi: 10.1160/TH14-11-0999. Epub 2015 Apr 16. Review.

PMID:
25879272
19.

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.

Nat Genet. 2015 May;47(5):535-538. doi: 10.1038/ng.3253. Epub 2015 Mar 25.

20.

MYH9-related thrombocytopenia and intracranial bleedings: a complex clinical/surgical management and review of the literature.

Palandri F, Zoli M, Polverelli N, Noris P, Sollazzo D, Catani L, Vianelli N, Palandri G.

Br J Haematol. 2015 Sep;170(5):729-31. doi: 10.1111/bjh.13324. Epub 2015 Mar 8. Review. No abstract available. Erratum in: Br J Haematol. 2016 Jan;172(1):147.

PMID:
25752999
21.

Inherited thrombocytopenias in the era of personalized medicine.

Noris P, Balduini CL.

Haematologica. 2015 Feb;100(2):145-8. doi: 10.3324/haematol.2014.122549. No abstract available.

22.

β-1 tubulin R307H SNP alters microtubule dynamics and affects severity of a hereditary thrombocytopenia.

Basciano PA, Matakas J, Pecci A, Civaschi E, Cagioni C, Bompiani N, Burger P, Christos P, Snyder JP, Bussel J, Balduini CL, Giannakakou P, Noris P.

J Thromb Haemost. 2015 Apr;13(4):651-9. doi: 10.1111/jth.12824. Epub 2015 Jan 22.

23.

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.

Bottega R, Marconi C, Faleschini M, Baj G, Cagioni C, Pecci A, Pippucci T, Ramenghi U, Pardini S, Ngu L, Baronci C, Kunishima S, Balduini CL, Seri M, Savoia A, Noris P.

Blood. 2015 Jan 29;125(5):869-72. doi: 10.1182/blood-2014-08-594531. Epub 2014 Oct 31.

24.

Small red blood cells mimicking platelets.

Noris P, Balduini CL.

Blood. 2014 Jun 26;123(26):4014. No abstract available.

25.

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.

Blood. 2014 Aug 7;124(6):e4-e10. doi: 10.1182/blood-2014-03-564328. Epub 2014 Jul 2.

26.

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.

Hum Mutat. 2014 Sep;35(9):1033-45. doi: 10.1002/humu.22607. Epub 2014 Jul 15. Review.

PMID:
24934643
27.

Platelet count and aging.

Balduini CL, Noris P.

Haematologica. 2014 Jun;99(6):953-5. doi: 10.3324/haematol.2014.106260. No abstract available.

28.

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.

Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, Fabris F, Favier R, Gresele P, Latger-Cannard V, Cuker A, Nurden P, Greinacher A, Cattaneo M, De Candia E, Pecci A, Hurtaud-Roux MF, Glembotsky AC, Muñiz-Diaz E, Randi ML, Trillot N, Bury L, Lecompte T, Marconi C, Savoia A, Balduini CL, Bayart S, Bauters A, Benabdallah-Guedira S, Boehlen F, Borg JY, Bottega R, Bussel J, De Rocco D, de Maistre E, Faleschini M, Falcinelli E, Ferrari S, Ferster A, Fierro T, Fleury D, Fontana P, James C, Lanza F, Le Cam Duchez V, Loffredo G, Magini P, Martin-Coignard D, Menard F, Mercier S, Mezzasoma A, Minuz P, Nichele I, Notarangelo LD, Pippucci T, Podda GM, Pouymayou C, Rigouzzo A, Royer B, Sie P, Siguret V, Trichet C, Tucci A, Saposnik B, Veneri D; European Hematology Association – Scientific Working Group on Thrombocytopenias and Platelet Function Disorders.

Haematologica. 2014 Aug;99(8):1387-94. doi: 10.3324/haematol.2014.105924. Epub 2014 Apr 24.

29.

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.

Bluteau D, Balduini A, Balayn N, Currao M, Nurden P, Deswarte C, Leverger G, Noris P, Perrotta S, Solary E, Vainchenker W, Debili N, Favier R, Raslova H.

J Clin Invest. 2014 Feb;124(2):580-91. doi: 10.1172/JCI71861. Epub 2014 Jan 16.

30.

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.

Hum Mutat. 2014 Feb;35(2):236-47. doi: 10.1002/humu.22476. Epub 2013 Dec 12.

31.

ANKRD26-related thrombocytopenia and myeloid malignancies.

Noris P, Favier R, Alessi MC, Geddis AE, Kunishima S, Heller PG, Giordano P, Niederhoffer KY, Bussel JB, Podda GM, Vianelli N, Kersseboom R, Pecci A, Gnan C, Marconi C, Auvrignon A, Cohen W, Yu JC, Iguchi A, Miller Imahiyerobo A, Boehlen F, Ghalloussi D, De Rocco D, Magini P, Civaschi E, Biino G, Seri M, Savoia A, Balduini CL.

Blood. 2013 Sep 12;122(11):1987-9. doi: 10.1182/blood-2013-04-499319. No abstract available.

32.

Mean platelet volume for distinguishing between inherited thrombocytopenias and immune thrombocytopenia--response to Beyan.

Balduini CL, Noris P.

Br J Haematol. 2013 Nov;163(3):413-4. doi: 10.1111/bjh.12504. Epub 2013 Aug 16. No abstract available.

PMID:
23952106
33.

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.

Br J Haematol. 2013 Jul;162(1):112-9. doi: 10.1111/bjh.12349. Epub 2013 Apr 25.

34.

Diagnosis and management of inherited thrombocytopenias.

Balduini CL, Pecci A, Noris P.

Semin Thromb Hemost. 2013 Mar;39(2):161-71. doi: 10.1055/s-0032-1333540. Epub 2013 Feb 8. Review.

PMID:
23397552
35.

Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia.

Necchi V, Balduini A, Noris P, Barozzi S, Sommi P, di Buduo C, Balduini CL, Solcia E, Pecci A.

Thromb Haemost. 2013 Feb;109(2):263-71. doi: 10.1160/TH12-07-0497. Epub 2012 Dec 6.

PMID:
23223974
36.

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.

Eur J Med Genet. 2013 Jan;56(1):7-12. doi: 10.1016/j.ejmg.2012.10.009. Epub 2012 Oct 30.

37.

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.

Haematologica. 2013 Jun;98(6):868-74. doi: 10.3324/haematol.2012.075861. Epub 2012 Oct 25.

38.

Inherited thrombocytopenias: the evolving spectrum.

Balduini CL, Pecci A, Noris P.

Hamostaseologie. 2012;32(4):259-70. doi: 10.5482/ha12050001. Epub 2012 Sep 13. Review.

PMID:
22972471
39.

Safety and efficacy of low-dose fondaparinux (1.5 mg) for the prevention of venous thromboembolism in acutely ill medical patients with renal impairment: the FONDAIR study.

Ageno W, Riva N, Noris P, Di Nisio M, La Regina M, Arioli D, Ria L, Monzani V, Cuppini S, Lupia E, Giorgi Pierfranceschi M, Dentali F; FONDAIR study group.

J Thromb Haemost. 2012 Nov;10(11):2291-7. doi: 10.1111/j.1538-7836.2012.04908.x. Erratum in: J Thromb Haemost. 2016 Jan;14(1):225. Pierfranceschi, M G [corrected to Giorgi Pierfranceschi, M].

40.

Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type.

Noris P, Valli R, Pecci A, Marletta C, Invernizzi R, Mare L, Balduini CL, Maserati E.

Eur J Haematol. 2012 Oct;89(4):345-9. doi: 10.1111/j.1600-0609.2012.01833.x. Epub 2012 Aug 3.

PMID:
22775407
41.

International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country.

Glembotsky AC, Marta RF, Pecci A, De Rocco D, Gnan C, Espasandin YR, Goette NP, Negro F, Noris P, Savoia A, Balduini CL, Molinas FC, Heller PG.

J Thromb Haemost. 2012 Aug;10(8):1653-61. doi: 10.1111/j.1538-7836.2012.04805.x.

42.

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.

PLoS One. 2012;7(4):e35986. doi: 10.1371/journal.pone.0035986. Epub 2012 Apr 25.

43.

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).

Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, Russo S, Magrin S, Loffredo G, Di Salvo V, Russo G, Casale M, De Rocco D, Grignani C, Cattaneo M, Baronci C, Dragani A, Albano V, Jankovic M, Scianguetta S, Savoia A, Balduini CL.

Haematologica. 2012 Jan;97(1):82-8. doi: 10.3324/haematol.2011.050682. Epub 2011 Sep 20.

44.

Investigational drugs in thrombotic thrombocytopenic purpura.

Noris P, Balduini CL.

Expert Opin Investig Drugs. 2011 Aug;20(8):1087-98. doi: 10.1517/13543784.2011.588599. Epub 2011 Jun 10. Review.

PMID:
21657946
45.

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, Pujol-Moix N, Zecca M, Scognamiglio F, De Rocco D, Punzo F, Melazzini F, Scianguetta S, Casale M, Marconi C, Pippucci T, Amendola G, Notarangelo LD, Klersy C, Civaschi E, Balduini CL, Savoia A.

Blood. 2011 Jun 16;117(24):6673-80. doi: 10.1182/blood-2011-02-336537. Epub 2011 Apr 5.

46.

Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro.

Balduini A, Malara A, Balduini CL, Noris P.

Platelets. 2011;22(4):308-11. doi: 10.3109/09537104.2010.547960. Epub 2011 Feb 15. No abstract available.

PMID:
21322749
47.

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL.

Am J Hum Genet. 2011 Jan 7;88(1):115-20. doi: 10.1016/j.ajhg.2010.12.006.

48.

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.

Savoia A, Pastore A, De Rocco D, Civaschi E, Di Stazio M, Bottega R, Melazzini F, Bozzi V, Pecci A, Magrin S, Balduini CL, Noris P.

Haematologica. 2011 Mar;96(3):417-23. doi: 10.3324/haematol.2010.032631. Epub 2010 Dec 20.

49.

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations.

Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T, Bozzi V, Mezzasoma AM, Melazzini F, Balduini CL.

Blood. 2010 Dec 23;116(26):5832-7. doi: 10.1182/blood-2010-08-304725. Epub 2010 Sep 15.

50.

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.

Thromb Haemost. 2010 Apr;103(4):826-32. doi: 10.1160/TH09-08-0593. Epub 2010 Feb 19.

PMID:
20174760

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