MYH9 gene mutations associated with bleeding by Anna Savoia, Daniela De Rocco, Alessandro Pecci

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Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of <i>THPO</i> as a novel mechanism of congenital amegakaryocytic thrombocytopenia by Valeria Capaci, Etai Adam, Ifat Bar-Joseph, Michela Faleschini, Alessandro Pecci, Anna Savoia

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Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6 by Valeria Capaci, Melania Eva Zanchetta, Giorgia Fontana, Daniele Ammeti, Roberta Bottega, Michela Faleschini, Anna Savoia

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Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event by Ilaria Persico, Ilaria Fiscarelli, Ilaria Fiscarelli, Alessandra Pelle, Michela Faleschini, Barbara Pasini, Barbara Pasini, Anna Savoia, Roberta Bottega

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“CHildren with Inherited Platelet disorders Surveillance” (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncolo... by Giuseppe Lassandro, Valentina Palladino, Michela Faleschini, Angelica Barone, Gianluca Boscarol, Simone Cesaro, Elena Chiocca, Piero Farruggia, Fiorina Giona, Chiara Gorio, Angela Maggio, Maddalena Marinoni, Antonio Marzollo, Giuseppe Palumbo, Giuseppe Palumbo, Giovanna Russo, Paola Saracco, Marco Spinelli, Federico Verzegnassi, Francesca Morga, Anna Savoia, Anna Savoia, Paola Giordano

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Fanconi anemia patients are more susceptible to infection with tumor virus SV40. by Manola Comar, Manola Comar, Daniela De Rocco, Enrico Cappelli, Nunzia Zanotta, Roberta Bottega, Johanna Svahn, Piero Farruggia, Aldo Misuraca, Fabio Corsolini, Carlo Dufour, Anna Savoia

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Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel <I>GFI1B</I> germline mutation by Michela Faleschini, Nicole Papa, Marie-Christine Morel-Kopp, Caterina Marconi, Tania Giangregorio, Federica Melazzini, Valeria Bozzi, Marco Seri, Patrizia Noris, Alessandro Pecci, Anna Savoia, Roberta Bottega

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Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations by Anna Savoia, Annalisa Pastore, Daniela De Rocco, Elisa Civaschi, Mariateresa Di Stazio, Roberta Bottega, Federica Melazzini, Valeria Bozzi, Alessandro Pecci, Silvana Magrin, Carlo L. Balduini, Patrizia Noris

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Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim by Alessandro Pecci, Iman Ragab, Valeria Bozzi, Daniela De Rocco, Serena Barozzi, Tania Giangregorio, Heba Ali, Federica Melazzini, Mohamed Sallam, Caterina Alfano, Annalisa Pastore, Carlo L Balduini, Anna Savoia

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Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations by Anna Savoia, Carlo Dufour, Franco Locatelli, Patrizia Noris, Chiara Ambaglio, Vittorio Rosti, Marco Zecca, Simona Ferrari, Filomena di Bari, Anna Corcione, Mariateresa Di Stazio, Marco Seri, Carlo L. Balduini

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Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency by Roberta Bottega, Alessandro Pecci, Erica De Candia, Nuria Pujol-Moix, Paula G. Heller, Patrizia Noris, Daniela De Rocco, Gian Marco Podda, Ana C. Glembotsky, Marco Cattaneo, Carlo L. Balduini, Anna Savoia

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

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Dominant inheritance of a novel integrin β3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families by Paolo Gresele, Emanuela Falcinelli, Silvia Giannini, Pio D’Adamo, Angela D’Eustacchio, Teresa Corazzi, Anna Maria Mezzasoma, Filomena Di Bari, Giuseppe Guglielmini, Luca Cecchetti, Patrizia Noris, Carlo L. Balduini, Anna Savoia

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Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia by Roberta Bottega, Elena Nicchia, Enrico Cappelli, Silvia Ravera, Daniela De Rocco, Michela Faleschini, Fabio Corsolini, Filomena Pierri, Michaela Calvillo, Giovanna Russo, Gabriella Casazza, Ugo Ramenghi, Piero Farruggia, Carlo Dufour, Anna Savoia

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Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis by Ilaria Persico, Agnese Feresin, Michela Faleschini, Giorgia Fontana, Fabio Sirchia, Flavio Faletra, Martina La Bianca, Sarah Suergiu, Marcello Morgutti, Massimo Maschio, Adamo Pio D'Adamo, Karen S. Raraigh, Anna Savoia, Roberta Bottega

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Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup by Caterina Marconi, Alessandro Pecci, Flavia Palombo, Federica Melazzini, Roberta Bottega, Elena Nardi, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Tania Giangregorio, Pamela Magini, Carlo L. Balduini, Anna Savoia, Marco Seri, Patrizia Noris, Tommaso Pippucci

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Alteration of liver enzymes is a feature of the MYH9-related disease syndrome. by Alessandro Pecci, Ginevra Biino, Tiziana Fierro, Valeria Bozzi, Annamaria Mezzasoma, Patrizia Noris, Ugo Ramenghi, Giuseppe Loffredo, Fabrizio Fabris, Stefania Momi, Umberto Magrini, Mario Pirastu, Anna Savoia, Carlo Balduini, Paolo Gresele, Italian Registry for MYH9-releated diseases

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A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation by Ilaria Persico, Ilaria Persico, Ilaria Persico, Giorgia Fontana, Michela Faleschini, Melania Eva Zanchetta, Daniele Ammeti, Enrico Cappelli, Fabio Corsolini, Clara Mosa, Angela Guarina, Massimo Bogliolo, Massimo Bogliolo, Jordi Surrallés, Jordi Surrallés, Jordi Surrallés, Carlo Dufour, Piero Farruggia, Anna Savoia, Roberta Bottega

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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 Patrizia Noris, Silverio Perrotta, Roberta Bottega, Alessandro Pecci, Federica Melazzini, Elisa Civaschi, Sabina Russo, Silvana Magrin, Giuseppe Loffredo, Veronica Di Salvo, Giovanna Russo, Maddalena Casale, Daniela De Rocco, Claudio Grignani, Marco Cattaneo, Carlo Baronci, Alfredo Dragani, Veronica Albano, Momcilo Jankovic, Saverio Scianguetta, Anna Savoia, Carlo L. Balduini

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Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia by Federica Melazzini, Flavia Palombo, Alessandra Balduini, Daniela De Rocco, Caterina Marconi, Patrizia Noris, Chiara Gnan, Tommaso Pippucci, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Michael Doubek, Christian A. Di Buduo, Katerina Stano Kozubik, Lenka Radova, Giuseppe Loffredo, Sarka Pospisilova, Caterina Alfano, Marco Seri, Carlo L. Balduini, Alessandro Pecci, Anna Savoia

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