Search Results - "Bottone, Gabriella"

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome by Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Aughey, Gabriel N., Al Mutairi, Fuad, Accogli, Andrea, Zara, Federico, Tariq, Huma, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, El Said, Huda G., Al Shalan, Maha, Khang, Rin, Elbendary, Hasnaa M., Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Hannah, Michael G., Bertini, Enrico, Aguennouz, Mhammed, Groppa, Stanislav, Kathom, Hadil, Tincheva, Radka, Verrotti, Alberto, Macaya, Alfons, Garavaglia, Barbara, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Rana, Nuzhat N., Atawneh, Osama, Zuccotti, Gian V., Marseglia, Gian L., Shaikh, Farooq, Corsello, Giovanni, Mangano, Salvatore, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Zollo, Massimo, Berni-Canani, Roberto, Sisto, Antonio, Strano, Federica, Di Francesco, Ludovica, Salayev, Kamran, Xiromerisiou, Georgia, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Di Rosa, Gabriella, Pettoello-Mantovani, Massimo, Tazir, Meriem, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Saadi, Nebal W., Maccarone, Rita, Kara, Majdi, Karimiani, Ehsan G., Seri, Marco, Di-Falco, Giovanna, Barrano, Giuseppe, Operto, Francesca F., Valenzise, Mariella, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Shashkin, Chingiz, Koneyev, Kairgali, Pagnamenta, Alistair T., Corsello, Antonio, Dallapiccola, Bruno, Alobeid, Eman, Mankad, Kshitij, Ghayoor-Karimiani, Ehsan, Chung, Wendy K., Green, Rachel, Alkuraya, Fowzan S., Jepson, James E.C., Houlden, Henry

“…The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were…”
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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease by Calì, Elisa, Lin, Sheng-Jia, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, El Khorassani, Mohamed, Groppa, Stanislav, Karashova, Blagovesta Marinova, Di Rosa, Gabriella, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Veggiotti, Pierangelo, Savasta, Salvatore, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Ibrahim, Shahnaz, Kirmani, Salman, Atawneh, Osama, Lim, Shen-Yang, Shaikh, Farooq, Scardamaglia, Annarita, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Zollo, Massimo, Heimer, Gali, Alkuraya, Fowzan S., Guliyeva, Ulviyya, Salayev, Kamran, Fiorillo, Chiara, Rissotto, Federico, Gagliano, Antonella, Chimenz, Roberto, Gitto, Eloisa, Cuppari, Caterina, Magrinelli, Francesca, Zagaroli, Luca, Caloisi, Claudia, Fabiano, Cecilia, Bottone, Gabriella, Di Fabio, Sandra, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Zaki, Maha S., Kara, Majdi, Specchio, Nicola, Karimiani, Ehsan G., Salih, Ahmed M., David, Emanuele, Curró, Riccardo, Iezzi, Maria Laura, Iapadre, Giulia, Brancati, Francesco, Di Falco, Giovanna, Operto, Francesca F., Valenzise, Mariella, Della Rocca, Ylenia, Alesse, Edoardo, Pironti, Erica, Amore, Greta, Ceravolo, Giorgia, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Parisi, Pasquale, Genomics, Queen Square, Andrea Accogli, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Nardello, Rosaria, Ognibene, Marzia, Ruggieri, Martino, Zara, Federico, Abi Warde, Marie Therese, Gerard, Benedicte, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Varshney, Gaurav, Salpietro, Vincenzo

“…The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27)…”
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Pediatric Epidemic of Salmonella enterica Serovar Typhimurium in the Area of L'Aquila, Italy, Four Years after a Catastrophic Earthquake by Nigro, Giovanni, Bottone, Gabriella, Maiorani, Daniela, Trombatore, Fabiana, Falasca, Silvana, Bruno, Gianfranco

“…A Salmonella enterica epidemic occurred in children of the area of L'Aquila (Central Italy, Abruzzo region) between June 2013 and October 2014, four years…”
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Risk factors associated with complications/sequelae of acute and subacute haematogenous osteomyelitis: an Italian multicenter study by Chiappini, Elena, Krzysztofiak, Andrzej, Bozzola, Elena, Gabiano, Clara, Esposito, Susanna, Lo Vecchio, Andrea, Govoni, Maria Rita, Vallongo, Cristina, Dodi, Icilio, Castagnola, Elio, Rossi, Nadia, Valentini, Piero, Cardinale, Fabio, Salvini, Filippo, Bona, Gianni, Bossi, Grazia, Olivieri, Alma Nunzia, Russo, Fiorella, Fossali, Emilio, Bottone, Gabriella, Dellepiane, Marta, De Martino, Maurizio, Villani, Alberto, Galli, Luisa

“…Acute/subacute haematogenous osteomyelitis (AHOM/SAHOM) are potentially devastating diseases. Updated information about the epidemiology, management and…”
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Pediatric Tuberculosis in Italian Children: Epidemiological and Clinical Data from the Italian Register of Pediatric Tuberculosis by Galli, Luisa, Lancella, Laura, Tersigni, Chiara, Venturini, Elisabetta, Chiappini, Elena, Bergamini, Barbara Maria, Codifava, Margherita, Venturelli, Cristina, Tosetti, Giulia, Marabotto, Caterina, Cursi, Laura, Boccuzzi, Elena, Garazzino, Silvia, Tovo, Pier Angelo, Pinon, Michele, Le Serre, Daniele, Castiglioni, Laura, Lo Vecchio, Andrea, Guarino, Alfredo, Bruzzese, Eugenia, Losurdo, Giuseppe, Castagnola, Elio, Bossi, Grazia, Marseglia, Gian Luigi, Esposito, Susanna, Bosis, Samantha, Grandolfo, Rita, Fiorito, Valentina, Valentini, Piero, Buonsenso, Danilo, Domenici, Raffaele, Montesanti, Marco, Salvini, Filippo Maria, Riva, Enrica, Dodi, Icilio, Maschio, Francesca, Abbagnato, Luisa, Fiumana, Elisa, Fornabaio, Chiara, Ballista, Patrizia, Portelli, Vincenzo, Bottone, Gabriella, Palladino, Nicola, Valenzise, Mariella, Vecchi, Barbara, Di Gangi, Maria, Lupi, Carla, Villani, Alberto, de Martino, Maurizio

“…Tuberculosis (TB) is one of the leading causes of death worldwide. Over the last decades, TB has also emerged in the pediatric population. Epidemiologic data…”
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Outbreak of unusual Salmonella enterica serovar Typhimurium monophasic variant 1,4 [5],12:i:-, Italy, June 2013 to September 2014 by Cito, Francesca, Baldinelli, Francesca, Calistri, Paolo, Di Giannatale, Elisabetta, Scavia, Gaia, Orsini, Massimiliano, Iannetti, Simona, Sacchini, Lorena, Mangone, Iolanda, Candeloro, Luca, Conte, Annamaria, Ippoliti, Carla, Morelli, Daniela, Migliorati, Giacomo, Barile, Nadia Beatrice, Marfoglia, Cristina, Salucci, Stefania, Cammà, Cesare, Marcacci, Maurilia, Ancora, Massimo, Dionisi, Anna Maria, Owczartek, Slawomir, Luzzi, Ida

“…Monophasic variant of Salmonella enterica subspecies enterica serovar Typhimurium (monophasic S. Typhimurium), with antigenic structure 1,4,[5],12:i:-, appears…”
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Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study by Raucci, Umberto, Parisi, Pasquale, Vanacore, Nicola, La Penna, Francesco, Ferro, Valentina, Calistri, Lucia, Bondone, Claudia, Midulla, Fabio, Suppiej, Agnese, Falsaperla, Raffaele, Cordelli, Duccio Maria, Palmieri, Antonella, Verrotti, Alberto, Becciani, Sabrina, Aguzzi, Sonia, Mastrangelo, Mario, Pelizza, Federica, Greco, Filippo, Carbonari, Giulia, Tallone, Ramona, Bottone, Gabriella, Trenta, Italo, Masi, Stefano, Villa, Maria Pia, Reale, Antonino

“…Abstract Background Acute diplopia (AD) is an uncommon and distressing symptom of numerous ocular and neurological conditions, with potentially serious…”
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Trace element content in human milk during lactation of preterm newborns by Aquilio, E, Spagnoli, R, Seri, S, Bottone, G, Spennati, G

“…The present study has been finalized to perform the content of Zn, Cu, Cr, Se, Mn, F, Mo, Ni, and B in the preterm human milk over 21 d of lactation. Trace…”
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