Search Results - "NORIS, Patrizia"

Hereditary thrombocytopenias: a growing list of disorders by Noris, Patrizia, Pecci, Alessandro

“…The introduction of high throughput sequencing (HTS) techniques greatly improved the knowledge of inherited thrombocytopenias (ITs) over the last few years. A…”
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Platelet count and aging by Balduini, Carlo L, Noris, Patrizia

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Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial by Zaninetti, Carlo, Gresele, Paolo, Bertomoro, Antonella, Klersy, Catherine, De Candia, Erica, Veneri, Dino, Barozzi, Serena, Fierro, Tiziana, Alberelli, Maria Adele, Musella, Valeria, Noris, Patrizia, Fabris, Fabrizio, Balduini, Carlo L, Pecci, Alessandro

“…Patients with inherited thrombocytopenias often require platelet transfusions to raise their platelet count before surgery or other invasive procedures;…”
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Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation by Bluteau, Dominique, Balduini, Alessandra, Balayn, Nathalie, Currao, Manuela, Nurden, Paquita, Deswarte, Caroline, Leverger, Guy, Noris, Patrizia, Perrotta, Silverio, Solary, Eric, Vainchenker, William, Debili, Najet, Favier, Remi, Raslova, Hana

“…Point mutations in the 5' UTR of ankyrin repeat domain 26 (ANKRD26) are associated with familial thrombocytopenia 2 (THC2) and a predisposition to leukemia…”
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Anemia in patients with Covid-19: pathogenesis and clinical significance by Bergamaschi, Gaetano, Borrelli de Andreis, Federica, Aronico, Nicola, Lenti, Marco Vincenzo, Barteselli, Chiara, Merli, Stefania, Pellegrino, Ivan, Coppola, Luigi, Cremonte, Elisa Maria, Croce, Gabriele, Mordà, Francesco, Lapia, Francesco, Ferrari, Sara, Ballesio, Alessia, Parodi, Alessandro, Calabretta, Francesca, Ferrari, Maria Giovanna, Fumoso, Federica, Gentile, Antonella, Melazzini, Federica, Di Sabatino, Antonio

“…COVID-19 patients typically present with lower airway disease, although involvement of other organ systems is usually the rule. Hematological manifestations…”
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Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families by 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

“…Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of autosomal dominant thrombocytopenia and only 2 families were known…”
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Bleeding risk of surgery and its prevention in patients with inherited platelet disorders by Orsini, Sara, Noris, Patrizia, Bury, Loredana, Heller, Paula G, Santoro, Cristina, Kadir, Rezan A, Butta, Nora C, Falcinelli, Emanuela, Cid, Ana Rosa, Fabris, Fabrizio, Fouassier, Marc, Miyazaki, Koji, Lozano, Maria Luisa, Zúñiga, Pamela, Flaujac, Claire, Podda, Gian Marco, Bermejo, Nuria, Favier, Remi, Henskens, Yvonne, De Maistre, Emmanuel, De Candia, Erica, Mumford, Andrew D, Ozdemir, Gul Nihal, Eker, Ibrahim, Nurden, Paquita, Bayart, Sophie, Lambert, Michele P, Bussel, James, Zieger, Barbara, Tosetto, Alberto, Melazzini, Federica, Glembotsky, Ana C, Pecci, Alessandro, Cattaneo, Marco, Schlegel, Nicole, Gresele, Paolo

“…Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of…”
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Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia by Melazzini, Federica, Palombo, Flavia, Balduini, Alessandra, De Rocco, Daniela, Marconi, Caterina, Noris, Patrizia, Gnan, Chiara, Pippucci, Tommaso, Bozzi, Valeria, Faleschini, Michela, Barozzi, Serena, Doubek, Michael, Di Buduo, Christian A, Kozubik, Katerina Stano, Radova, Lenka, Loffredo, Giuseppe, Pospisilova, Sarka, Alfano, Caterina, Seri, Marco, Balduini, Carlo L, Pecci, Alessandro, Savoia, Anna

“…ETV6-related thrombocytopenia is an autosomal dominant thrombocytopenia that has been recently identified in a few families and has been suspected to…”
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ANKRD26-related thrombocytopenia and myeloid malignancies by Noris, Patrizia, Favier, Remi, Alessi, Marie-Christine, Geddis, Amy E., Kunishima, Shinji, Heller, Paula G., Giordano, Paola, Niederhoffer, Karen Y., Bussel, James B., Podda, Gian Marco, Vianelli, Nicola, Kersseboom, Rogier, Pecci, Alessandro, Gnan, Chiara, Marconi, Caterina, Auvrignon, Anne, Cohen, William, Yu, Jennifer C., Iguchi, Akihiro, Miller Imahiyerobo, Allison, Boehlen, Francoise, Ghalloussi, Dorsaf, De Rocco, Daniela, Magini, Pamela, Civaschi, Elisa, Biino, Ginevra, Seri, Marco, Savoia, Anna, Balduini, Carlo L.

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ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism by Faleschini, Michela, Ammeti, Daniele, Papa, Nicole, Alfano, Caterina, Bottega, Roberta, Fontana, Giorgia, Capaci, Valeria, Zanchetta, Melania E, Pozzani, Federico, Montanari, Francesca, Petroni, Valeria, Giordano, Paola, Noris, Patrizia, Giona, Fiorina, Savoia, Anna

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Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2 by Pippucci, Tommaso, Savoia, Anna, Perrotta, Silverio, Pujol-Moix, Núria, Noris, Patrizia, Castegnaro, Giovanni, Pecci, Alessandro, Gnan, Chiara, Punzo, Francesca, Marconi, Caterina, Gherardi, Samuele, Loffredo, Giuseppe, De Rocco, Daniela, Scianguetta, Saverio, Barozzi, Serena, Magini, Pamela, Bozzi, Valeria, Dezzani, Luca, Di Stazio, Mariateresa, Ferraro, Marcella, Perini, Giovanni, Seri, Marco, Balduini, Carlo L.

“…THC2, an autosomal-dominant thrombocytopenia described so far in only two families, has been ascribed to mutations in MASTL or ACBD5. Here, we show that…”
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Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup by Marconi, Caterina, Pecci, Alessandro, Palombo, Flavia, Melazzini, Federica, Bottega, Roberta, Nardi, Elena, Bozzi, Valeria, Faleschini, Michela, Barozzi, Serena, Giangregorio, Tania, Magini, Pamela, Balduini, Carlo L, Savoia, Anna, Seri, Marco, Noris, Patrizia, Pippucci, Tommaso

“…Inherited thrombocytopenias (IT) are genetic diseases characterized by low platelet count, sometimes associated with congenital defects or a predisposition to…”
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A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly by Barozzi, Serena, Bozzi, Valeria, De Rocco, Daniela, Giangregorio, Tania, Noris, Patrizia, Savoia, Anna, Pecci, Alessandro

“…Bernard-Soulier syndrome (BSS) is an autosomal-recessive bleeding disorder caused by biallelic variants in the GP1BA, GP1BB, and GP9 genes encoding the…”
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Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations by Pecci, Alessandro, Gresele, Paolo, Klersy, Catherine, Savoia, Anna, Noris, Patrizia, Fierro, Tiziana, Bozzi, Valeria, Mezzasoma, Anna Maria, Melazzini, Federica, Balduini, Carlo L.

“…Platelet transfusion is currently the primary medical treatment for reducing thrombocytopenia in patients with inherited thrombocytopenias. To evaluate whether…”
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GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme by Bottega, Roberta, Marzollo, Antonio, Marinoni, Maddalena, Athanasakis, Emmanouil, Persico, Ilaria, Bianco, Anna Monica, Faleschini, Michela, Valencic, Erica, Simoncini, Daniela, Rossini, Linda, Corsolini, Fabio, La Bianca, Martina, Robustelli, Giuseppe, Gabelli, Maria, Agosti, Massimo, Biffi, Alessandra, Grotto, Paolo, Bozzi, Valeria, Noris, Patrizia, Burlina, Alberto B, D'Adamo, Adamo Pio, Tommasini, Alberto, Faletra, Flavio, Pastore, Annalisa, Savoia, Anna

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Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study by Noris, Patrizia, Klersy, Catherine, Gresele, Paolo, Giona, Fiorina, Giordano, Paola, Minuz, Pietro, Loffredo, Giuseppe, Pecci, Alessandro, Melazzini, Federica, Civaschi, Elisa, Mezzasoma, Annamaria, Piedimonte, Monica, Semeraro, Fabrizio, Veneri, Dino, Menna, Francesco, Ciardelli, Laura, Balduini, Carlo L.

“…Summary The most frequent forms of inherited thrombocytopenia (IT) are characterized by platelet size abnormalities and it has been suggested that this…”
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Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation by Faleschini, Michela, Papa, Nicole, Morel-Kopp, Marie-Christine, Marconi, Caterina, Giangregorio, Tania, Melazzini, Federica, Bozzi, Valeria, Seri, Marco, Noris, Patrizia, Pecci, Alessandro, Savoia, Anna, Bottega, Roberta

“…GFI1B is a transcription factor essential for the regulation of erythropoiesis and megakaryopoiesis, and pathogenic variants have been associated with…”
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ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization by Bottega, Roberta, Marconi, Caterina, Faleschini, Michela, Baj, Gabriele, Cagioni, Claudia, Pecci, Alessandro, Pippucci, Tommaso, Ramenghi, Ugo, Pardini, Simonetta, Ngu, Loretta, Baronci, Carlo, Kunishima, Shinji, Balduini, Carlo L., Seri, Marco, Savoia, Anna, Noris, Patrizia

“…Inherited thrombocytopenias (ITs) are a heterogeneous group of syndromic and nonsyndromic diseases caused by mutations affecting different genes. Alterations…”
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Fundamentals for a Systematic Approach to Mild and Moderate Inherited Bleeding Disorders: An EHA Consensus Report by Rodeghiero, Francesco, Pabinger, Ingrid, Ragni, Margaret, Abdul‐Kadir, Rezan, Berntorp, Erik, Blanchette, Victor, Bodó, Imre, Casini, Alessandro, Gresele, Paolo, Lassila, Riitta, Leebeek, Frank, Lillicrap, David, Mezzano, Diego, Noris, Patrizia, Srivastava, Alok, Tosetto, Alberto, Windyga, Jerzy, Zieger, Barbara, Makris, Mike, Key, Nigel

“…Healthy subjects frequently report minor bleedings that are frequently ‘background noise’ of normality rather than a true disorder. Nevertheless, unexpected or…”
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Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation) by Noris, Patrizia, Perrotta, Silverio, Bottega, Roberta, Pecci, Alessandro, Melazzini, Federica, Civaschi, Elisa, Russo, Sabina, Magrin, Silvana, Loffredo, Giuseppe, Di Salvo, Veronica, Russo, Giovanna, Casale, Maddalena, De Rocco, Daniela, Grignani, Claudio, Cattaneo, Marco, Baronci, Carlo, Dragani, Alfredo, Albano, Veronica, Jankovic, Momcilo, Scianguetta, Saverio, Savoia, Anna, Balduini, Carlo L

“…Bernard-Soulier syndrome is a very rare form of inherited thrombocytopenia that derives from mutations in GPIbα, GPIbβ, or GPIX and is typically inherited as a…”
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