Search Results - "De Rocco, Daniela"

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder by Savoia, Anna, De Rocco, Daniela, Panza, Emanuele, Bozzi, Valeria, Scandellari, Raffaella, Loffredo, Giuseppe, Mumford, Andrew, Heller, Paula G, Noris, Patrizia, De Groot, Marco R, Giani, Marisa, Freddi, Paolo, Scognamiglio, Francesca, Riondino, Silvia, Pujol-Moix, Núria, Fabris, Fabrizio, Seri, Marco, Balduini, Carlo L, Pecci, Alessandro

“…MYH9-related disease ( MYH9-RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive…”
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MYH9 gene mutations associated with bleeding by Savoia, Anna, De Rocco, Daniela, Pecci, Alessandro

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Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene by Marzollo, Antonio, Zampieri, Stefania, Barozzi, Serena, Yousaf, Muhammad Abrar, Quartararo, Jade, De Rocco, Daniela, Faleschini, Michela, Marconi, Caterina, Ceccatelli Berti, Camilla, Bozzi, Valeria, Russo, Giovanna, Giordano, Paola, Goffrini, Paola, Bresolin, Silvia, Pastore, Annalisa, Savoia, Anna, Pecci, Alessandro

“…Thrombocytopenia 4 (THC4) is an autosomal-dominant thrombocytopenia caused by mutations in CYCS, the gene encoding cytochrome c (CYCS), a small haeme protein…”
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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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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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Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim by 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

“…Congenital amegakaryocytic thrombocytopenia (CAMT) is an inherited disorder characterized at birth by thrombocytopenia with reduced megakaryocytes, which…”
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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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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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Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia by 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

“…Fanconi anemia is a rare disease characterized by congenital malformations, aplastic anemia, and predisposition to cancer. Despite the consolidated role of the…”
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Renin Angiotensin System, COVID-19 and Male Fertility: Any Risk for Conceiving? by Pascolo, Lorella, Zito, Gabriella, Zupin, Luisa, Luppi, Stefania, Giolo, Elena, Martinelli, Monica, De Rocco, Daniela, Crovella, Sergio, Ricci, Giuseppe

“…The current knowledge concerning the connection between severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and the renin-angiotensin system (RAS)…”
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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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Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency by Bottega, Roberta, Pecci, Alessandro, De Candia, Erica, Pujol-Moix, Nuria, Heller, Paula G, Noris, Patrizia, De Rocco, Daniela, Podda, Gian Marco, Glembotsky, Ana C, Cattaneo, Marco, Balduini, Carlo L, Savoia, Anna

“…The gray platelet syndrome is a rare inherited bleeding disorder characterized by macrothrombocytopenia and deficiency of alpha (α)-granules in platelets. The…”
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Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations by SAVOIA, Anna, PASTORE, Annalisa, BALDUINI, Carlo L, NORIS, Patrizia, DE ROCCO, Daniela, CIVASCHI, Elisa, DI STAZIO, Mariateresa, BOTTEGA, Roberta, MELAZZINI, Federica, BOZZI, Valeria, PECCI, Alessandro, MAGRIN, Silvana

“…Bernard-Soulier syndrome is a severe bleeding disease due to a defect of GPIb/IX/V, a platelet complex that binds the von Willebrand factor. Due to the rarity…”
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Somatic, hematologic phenotype, long‐term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology–Oncology) by Svahn, Johanna, Bagnasco, Francesca, Cappelli, Enrico, Onofrillo, Daniela, Caruso, Silvia, Corsolini, Fabio, De Rocco, Daniela, Savoia, Anna, Longoni, Daniela, Pillon, Marta, Marra, Nicoletta, Ramenghi, Ugo, Farruggia, Piero, Locasciulli, Anna, Addari, Carmen, Cerri, Carla, Mastrodicasa, Elena, Casazza, Gabriella, Verzegnassi, Federico, Riccardi, Francesca, Haupt, Riccardo, Barone, Angelica, Cesaro, Simone, Cugno, Chiara, Dufour, Carlo

“…We analyzed 97 Fanconi anemia patients from a clinic/biological database for genotype, somatic, and hematologic phenotype, adverse hematological events, solid…”
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Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing by Nicchia, Elena, Benedicenti, Francesco, Rocco, Daniela De, Greco, Chiara, Bottega, Roberta, Inzana, Francesca, Faleschini, Michela, Bonin, Serena, Cappelli, Enrico, Mogni, Massimo, Stanzial, Franco, Svahn, Johanna, Dufour, Carlo, Savoia, Anna

“…Background Fanconi anemia (FA) is a rare genetic disease characterized by congenital malformations, aplastic anemia and increased risk of developing…”
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Fanconi anemia patients are more susceptible to infection with tumor virus SV40 by Comar, Manola, De Rocco, Daniela, Cappelli, Enrico, Zanotta, Nunzia, Bottega, Roberta, Svahn, Johanna, Farruggia, Piero, Misuraca, Aldo, Corsolini, Fabio, Dufour, Carlo, Savoia, Anna

“…Fanconi anemia (FA) is a recessive DNA repair disease characterized by a high predisposition to developing neoplasms. DNA tumor polyomavirus simian virus 40…”
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MYH9 -related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations by De Rocco, Daniela, Zieger, Barbara, Platokouki, Helen, Heller, Paula G, Pastore, Annalisa, Bottega, Roberta, Noris, Patrizia, Barozzi, Serena, Glembotsky, Ana C, Pergantou, Helen, Balduini, Carlo L, Savoia, Anna, Pecci, Alessandro

“…Abstract MYH9 -related disease ( MYH9- RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9 , the gene encoding for the heavy chain…”
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Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology by De Rocco, D., Bottega, R., Cappelli, E., Cavani, S., Criscuolo, M., Nicchia, E., Corsolini, F., Greco, C., Borriello, A., Svahn, J., Pillon, M., Mecucci, C., Casazza, G., Verzegnassi, F., Cugno, C., Locasciulli, A., Farruggia, P., Longoni, D., Ramenghi, U., Barberi, W., Tucci, F., Perrotta, S., Grammatico, P., Hanenberg, H., Ragione, F. D., Dufour, C., Savoia, A.

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Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA by Kahr, Walter H A, Savoia, Anna, Pluthero, Fred G, Li, Ling, Christensen, Hilary, De Rocco, Daniela, Traivaree, Chanchai, Butchart, Sheila E, Curtin, Julie, Stollar, Elliott J, Forman-Kay, Julie D, Blanchette, Victor S

“…Heterozygous mutations in MYH9, which encodes non-muscle myosin heavy chain IIA (MHC-IIA), result in autosomal dominant inherited MYH9-related disorders…”
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