Inherited thrombocytopenias: an updated guide for clinicians

Authors: Pecci, Alessandro, Balduini, Carlo L.

Source: In Blood Reviews July 2021 48

Spontaneous splenic rupture due to extramedullary haematopoiesis in a patient with inherited thrombocytopenia

Authors: Zaninetti, Carlo, Sacco, Clara, Rahal, Daoud, Barozzi, Serena, Balduini, Carlo L., Lodigiani, Corrado, Pecci, Alessandro

Source: Blood transfusion. 19(3):257-260

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN626435619&indx=1&recIds=ETOCRN626435619

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

Authors: Marconi, Caterina, Di Buduo, Christian A. ^*, LeVine, Kellie ^*, Barozzi, Serena ^*, Faleschini, Michela, Bozzi, Valeria, Palombo, Flavia, McKinstry, Spencer, Lassandro, Giuseppe, Giordano, Paola, Noris, Patrizia, Balduini, Carlo L., Savoia, Anna, Balduini, Alessandra, Pippucci, Tommaso, Seri, Marco ^*, Katsanis, Nicholas, Pecci, Alessandro

Source: In Blood 21 March 2019 133(12):1346-1357

Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases

Authors: Balduini, Alessandra, Raslova, Hana, Di Buduo, Christian A., Donada, Alessandro, Ballmaier, Matthias, Germeshausen, Manuela, Balduini, Carlo L.

Source: In European Journal of Medical Genetics November 2018 61(11):715-722

Prevalence of anemia in hospitalized internal medicine patients: Correlations with comorbidities and length of hospital stay

Authors: Zaninetti, Carlo, Klersy, Catherine, Scavariello, Concetta, Bastia, Raffaella, Balduini, Carlo L., Invernizzi, Rosangela

Source: In European Journal of Internal Medicine May 2018 51:11-17

EDA fibronectin—TLR4 axis sustains megakaryocyte expansion and inflammation in bone marrow fibrosis

Authors: Malara, Alessandro, Gruppi, Cristian, Abbonante, Vittorio, Cattaneo, Daniele, De Marco, Luigi, Massa, Margherita, Iurlo, Alessandra, Gianelli, Umberto, Balduini, Carlo L., Tira, Maria E.

Source: Journal of experimental medicine. 216(3):587-604

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN619232160&indx=1&recIds=ETOCRN619232160

Efficacy and safety of thalidomide for the treatment of severe recurrent epistaxis in hereditary haemorrhagic telangiectasia: results of a non-randomised, single-centre, phase 2 study

Authors: Invernizzi, Rosangela, Quaglia, Federica, Klersy, Catherine, Pagella, Fabio, Ornati, Federica, Chu, Francesco, Matti, Elina, Spinozzi, Giuseppe, Plumitallo, Sara, Grignani, Pierangela, Olivieri, Carla, Bastia, Raffaella, Bellistri, Francesca, Danesino, Cesare, Benazzo, Marco, Balduini, Carlo L

Source: In The Lancet Haematology November 2015 2(11):e465-e473

Inherited thrombocytopenias—recent advances in clinical and molecular aspects

Authors: Balduini, Carlo L., Melazzini, Federica, Pecci, Alessandro

Source: Platelets. 28(1):3-13

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100105854358.0x000001&indx=1&recIds=ETOCvdc_100105854358.0x000001

Eltrombopag in preparation for surgery in patients with severe MYH9‐related thrombocytopenia

Authors: Zaninetti, Carlo, Barozzi, Serena, Bozzi, Valeria, Gresele, Paolo, Balduini, Carlo L., Pecci, Alessandro

Source: American journal of hematology. 94(8):E199-E201

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100085004270.0x000001&indx=1&recIds=ETOCvdc_100085004270.0x000001

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

Authors: Noris, Patrizia, Biino, Ginevra, Pecci, Alessandro, Civaschi, Elisa, Savoia, Anna, Seri, Marco, Melazzini, Federica, Loffredo, Giuseppe, Russo, Giovanna, Bozzi, Valeria, Notarangelo, Lucia Dora, Gresele, Paolo, Heller, Paula G., Pujol-Moix, Nuria, Kunishima, Shinji, Cattaneo, Marco, Bussel, James, De Candia, Erica, Cagioni, Claudia, Ramenghi, Ugo, Barozzi, Serena, Fabris, Fabrizio, Balduini, Carlo L. ^*

Source: In Blood 7 August 2014 124(6):e4-e10

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

Authors: Noris, Patrizia, Melazzini, Federica, Balduini, Carlo L.

Source: Platelets. 27(7):607-612

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100105854325.0x000001&indx=1&recIds=ETOCvdc_100105854325.0x000001

Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome

Authors: Larocca, Luigi M., Heller, Paula G., Podda, Gianmarco, Pujol-Moix, Nuria, Glembotsky, Ana C., Pecci, Alessandro, Alberelli, Maria Adele, Balduini, Carlo L., Landolfi, Raffaele, Cattaneo, Marco, De Candia, Erica

Source: Platelets. 26(8):751-757

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100105854069.0x000001&indx=1&recIds=ETOCvdc_100105854069.0x000001

A population-based study of an Italian genetic isolate reveals that mean platelet volume is not a risk factor for thrombosis

Authors: Biino, Ginevra, Portas, Laura, Murgia, Federico, Vaccargiu, Simona, Parracciani, Debora, Pirastu, Mario, Balduini, Carlo L.

Source: In Thrombosis Research April 2012 129(4):e8-e13

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

Authors: Noris, Patrizia, Perrotta, Silverio, Seri, Marco, Pecci, Alessandro, Gnan, Chiara, Loffredo, Giuseppe, Pujol-Moix, Nuria, Zecca, Marco, Scognamiglio, Francesca, De Rocco, Daniela, Punzo, Francesca, Melazzini, Federica, Scianguetta, Saverio, Casale, Maddalena, Marconi, Caterina, Pippucci, Tommaso, Amendola, Giovanni, Notarangelo, Lucia D., Klersy, Catherine, Civaschi, Elisa, Balduini, Carlo L., Savoia, Anna

Source: In Blood 16 June 2011 117(24):6673-6680

Research at the heart of hematology: thrombocytopenias and platelet function disorders

Authors: Balduini, Carlo L., Melazzini, Federica

Source: Haematologica. 102(2):203-205

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN609726244&indx=1&recIds=ETOCRN609726244

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

Authors: Pecci, Alessandro, Gresele, Paolo, Klersy, Catherine, Savoia, Anna, Noris, Patrizia, Fierro, Tiziana, Bozzi, Valeria, Mezzasoma, Anna Maria, Melazzini, Federica, Balduini, Carlo L.

Source: In Blood 23 December 2010 116(26):5832-5837

A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect

Authors: Vettore, Silvia, De Rocco, Daniela, Gerber, Bernhard, Scandellari, Raffaella, Bianco, Anna Monica, Balduini, Carlo L., Pecci, Alessandro, Fabris, Fabrizio, Savoia, Anna

Source: In European Journal of Medical Genetics 2010 53(5):256-260

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

Authors: Balduini, Carlo L., Noris, Patrizia

Source: Haematologica. 101(1):2-4

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN604486037&indx=1&recIds=ETOCRN604486037

Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene

Authors: De Rocco, Daniela, Pujol-Moix, Nuria, Pecci, Alessandro, Faletra, Flavio, Bozzi, Valeria, Balduini, Carlo L., Savoia, Anna

Source: In European Journal of Medical Genetics 2009 52(4):191-194

Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains

Authors: Marigo, Valeria, Nigro, Alessandra, Pecci, Alessandro, Montanaro, Donatella, Di Stazio, Mariateresa, Balduini, Carlo L., Savoia, Anna ^*

Source: In Genomics June 2004 83(6):1125-1133