Recent advances in the understanding and management of MYH9‐related inherited thrombocytopenias
Balduini, Carlo L., Pecci, Alessandro, Savoia, Anna
Published in British journal of haematology (01.07.2011)
Published in British journal of haematology (01.07.2011)
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Journal Article
Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia
Capaci, Valeria, Adam, Etai, Bar-Joseph, Ifat, Faleschini, Michela, Pecci, Alessandro, Savoia, Anna
Published in Haematologica (Roma) (01.05.2023)
Published in Haematologica (Roma) (01.05.2023)
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Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families
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
Published in Blood (16.06.2011)
Published in Blood (16.06.2011)
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Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia
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
Published in Haematologica (Roma) (01.11.2016)
Published in Haematologica (Roma) (01.11.2016)
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Journal Article
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations
Pecci, Alessandro, Klersy, Catherine, Gresele, Paolo, Lee, Kieran J.D., De Rocco, Daniela, Bozzi, Valeria, Russo, Giovanna, Heller, Paula G., Loffredo, Giuseppe, Ballmaier, Matthias, Fabris, Fabrizio, Beggiato, Eloise, Kahr, Walter H.A., Pujol-Moix, Nuria, Platokouki, Helen, Van Geet, Christel, Noris, Patrizia, Yerram, Preethi, Hermans, Cedric, Gerber, Bernhard, Economou, Marina, De Groot, Marco, Zieger, Barbara, De Candia, Erica, Fraticelli, Vincenzo, Kersseboom, Rogier, Piccoli, Giorgina B., Zimmermann, Stefanie, Fierro, Tiziana, Glembotsky, Ana C., Vianello, Fabrizio, Zaninetti, Carlo, Nicchia, Elena, Güthner, Christiane, Baronci, Carlo, Seri, Marco, Knight, Peter J., Balduini, Carlo L., Savoia, Anna
Published in Human mutation (01.02.2014)
Published in Human mutation (01.02.2014)
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Journal Article
ANKRD26-related thrombocytopenia and myeloid malignancies
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.
Published in Blood (12.09.2013)
Published in Blood (12.09.2013)
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Journal Article
Spectrum of the Mutations in Bernard-Soulier Syndrome
Savoia, Anna, Kunishima, Shinji, De Rocco, Daniela, Zieger, Barbara, Rand, Margaret L., Pujol-Moix, Nuria, Caliskan, Umran, Tokgoz, Huseyin, Pecci, Alessandro, Noris, Patrizia, Srivastava, Alok, Ward, Christopher, Morel-Kopp, Marie-Christine, Alessi, Marie-Christine, Bellucci, Sylvia, Beurrier, Philippe, de Maistre, Emmanuel, Favier, Rémi, Hézard, Nathalie, Hurtaud-Roux, Marie-Françoise, Latger-Cannard, Véronique, Lavenu-Bombled, Cécile, Proulle, Valérie, Meunier, Sandrine, Négrier, Claude, Nurden, Alan, Randrianaivo, Hanitra, Fabris, Fabrizio, Platokouki, Helen, Rosenberg, Nurit, HadjKacem, Basma, Heller, Paula G., Karimi, Mehran, Balduini, Carlo L., Pastore, Annalisa, Lanza, Francois
Published in Human mutation (01.09.2014)
Published in Human mutation (01.09.2014)
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Journal Article
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism
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
Published in Haematologica (Roma) (01.09.2022)
Published in Haematologica (Roma) (01.09.2022)
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Journal Article
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim
Pecci, Alessandro, Ragab, Iman, Bozzi, Valeria, De Rocco, Daniela, Barozzi, Serena, Giangregorio, Tania, Ali, Heba, Melazzini, Federica, Sallam, Mohamed, Alfano, Caterina, Pastore, Annalisa, Balduini, Carlo L, Savoia, Anna
Published in EMBO molecular medicine (01.01.2018)
Published in EMBO molecular medicine (01.01.2018)
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Journal Article
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup
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
Published in Haematologica (Roma) (01.07.2023)
Published in Haematologica (Roma) (01.07.2023)
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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
Barozzi, Serena, Bozzi, Valeria, De Rocco, Daniela, Giangregorio, Tania, Noris, Patrizia, Savoia, Anna, Pecci, Alessandro
Published in International journal of molecular sciences (01.10.2021)
Published in International journal of molecular sciences (01.10.2021)
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Journal Article
Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2
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.
Published in American journal of human genetics (07.01.2011)
Published in American journal of human genetics (07.01.2011)
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Journal Article
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations
Pecci, Alessandro, Gresele, Paolo, Klersy, Catherine, Savoia, Anna, Noris, Patrizia, Fierro, Tiziana, Bozzi, Valeria, Mezzasoma, Anna Maria, Melazzini, Federica, Balduini, Carlo L.
Published in Blood (23.12.2010)
Published in Blood (23.12.2010)
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GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
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
Published in Haematologica (Roma) (01.03.2022)
Published in Haematologica (Roma) (01.03.2022)
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Journal Article
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia
Bottega, Roberta, Nicchia, Elena, Cappelli, Enrico, Ravera, Silvia, De Rocco, Daniela, Faleschini, Michela, Corsolini, Fabio, Pierri, Filomena, Calvillo, Michaela, Russo, Giovanna, Casazza, Gabriella, Ramenghi, Ugo, Farruggia, Piero, Dufour, Carlo, Savoia, Anna
Published in Haematologica (Roma) (01.03.2018)
Published in Haematologica (Roma) (01.03.2018)
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