Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development
Miolo, Gianmaria, Colavito, Davide, Della Puppa, Lara, Corona, Giuseppe
Published in Molecular syndromology (01.03.2024)
Published in Molecular syndromology (01.03.2024)
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Association between hsa-mir-146a genotype and tumor age-of-onset in BRCA1/BRCA2-negative familial breast and ovarian cancer patients
Pastrello, Chiara, Polesel, Jerry, Della Puppa, Lara, Viel, Alessandra, Maestro, Roberta
Published in Carcinogenesis (New York) (01.12.2010)
Published in Carcinogenesis (New York) (01.12.2010)
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Trabectedin may be a valuable treatment option for elderly patients with metastatic soft tissue sarcomas
Miolo, Gianmaria, Buonadonna, Angela, Lombardi, Davide, Scalone, Simona, Lauretta, Andrea, Della Puppa, Lara, Corona, Giuseppe
Published in Frontiers in oncology (25.07.2024)
Published in Frontiers in oncology (25.07.2024)
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Metabolic Clues to Bile Acid Patterns and Prolonged Survival in Patients with Metastatic Soft-Tissue Sarcoma Treated with Trabectedin
Miolo, Gianmaria, Buonadonna, Angela, Scalone, Simona, Lombardi, Davide, Della Puppa, Lara, Steffan, Agostino, Corona, Giuseppe
Published in Metabolites (26.09.2023)
Published in Metabolites (26.09.2023)
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Different molecular mechanisms underlie genomic deletions in the MLH1 Gene
Viel, Alessandra, Petronzelli, Fiorella, Puppa, Lara Della, Lucci-Cordisco, Emanuela, Fornasarig, Mara, Pucciarelli, Salvatore, Rovella, Valentina, Quaia, Michele, de Leon, Maurizio Ponz, Boiocchi, Mauro, Genuardi, Maurizio
Published in Human mutation (01.11.2002)
Published in Human mutation (01.11.2002)
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Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy
Cini, Giulia, Mezzavilla, Massimo, Della Puppa, Lara, Cupelli, Elisa, Fornasin, Alessio, D'Elia, Angela Valentina, Dolcetti, Riccardo, Damante, Giuseppe, Bertok, Sara, Miolo, Gianmaria, Maestro, Roberta, de Paoli, Paolo, Amoroso, Antonio, Viel, Alessandra
Published in BMC medical genetics (06.02.2016)
Published in BMC medical genetics (06.02.2016)
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Integrated analysis of unclassified variants in mismatch repair genes
Pastrello, Chiara, Pin, Elisa, Marroni, Fabio, Bedin, Chiara, Fornasarig, Mara, Tibiletti, Maria Grazia, Oliani, Cristina, De Leon, Maurizio Ponz, Urso, Emanuele Damiano, Puppa, Lara Della, Agostini, Marco, Viel, Alessandra
Published in Genetics in medicine (01.02.2011)
Published in Genetics in medicine (01.02.2011)
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Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations
Agata, Simona, Viel, Alessandra, Puppa, Lara Della, Cortesi, Laura, Fersini, Giusi, Callegaro, Monia, Palma, Maurizia Dalla, Dolcetti, Riccardo, Federico, Massimo, Venuta, Salvatore, Miolo, Gianmaria, D'Andrea, Emma, Montagna, Marco
Published in Genes chromosomes & cancer (01.09.2006)
Published in Genes chromosomes & cancer (01.09.2006)
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Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers
Miolo, GianMaria, Canzonieri, Vincenzo, De Giacomi, Clelia, Puppa, Lara Della, Dolcetti, Riccardo, Lombardi, Davide, Perin, Tiziana, Scalone, Simona, Veronesi, Andrea, Viel, Alessandra
Published in BMC cancer (10.10.2009)
Published in BMC cancer (10.10.2009)
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Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy
Miolo, GianMaria, Puppa, Lara Della, Santarosa, Manuela, De Giacomi, Clelia, Veronesi, Andrea, Bidoli, Ettore, Tibiletti, Maria Grazia, Viel, Alessandra, Dolcetti, Riccardo
Published in BMC cancer (09.06.2006)
Published in BMC cancer (09.06.2006)
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BRCA1 and BRCA2 genes: Role in hereditary breast and ovarian cancer in Italy
Santarosa, Manuela, Dolcetti, Riccardo, Magri, Maria Donatella, Crivellari, Diana, Tibiletti, Maria Grazia, Gallo, Angelo, Tumolo, Salvatore, Della Puppa, Lara, Furlan, Daniela, Boiocchi, Mauro, Viel, Alessandra
Published in International journal of cancer (24.09.1999)
Published in International journal of cancer (24.09.1999)
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Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation
ARETINI, Paolo, D'ANDREA, Emma, CALIGO, Maria Adelaide, CHIECO-BIANCHI, Luigi, CIPOLLINI, Giovanna, CRUCIANELLI, Rosella, D'AMICO, Cristina, FEDERICO, Massimo, GHIMENTI, Chiara, DE GIACOMI, Clelia, DE NICOLO, Arcangela, DELLA PUPPA, Lara, PASINI, Barbara, FERRARI, Sergio, FICORELLA, Corrado, IANDOLO, Davide, MANOUKIAN, Siranoush, MARCHETTI, Paolo, MARRONI, Fabio, MENIN, Chiara, MONTAGNA, Marco, OTTINI, Laura, PENSOTTI, Valeria, VIEL, Alessandra, PIEROTTI, Marco, RADICE, Paolo, SANTAROSA, Manuela, SILINGARDI, Vittorio, TURCHETTI, Daniela, BEVILACQUA, Generoso, PRESCIUTTINI, Silvano, MARIANI COSTANTINI, Renato, CORTESI, Laura, RICEVUTO, Enrico, AGATA, Simona, BISEGNA, Roberta, BOIOCCHI, Mauro
Published in Breast cancer research and treatment (01.09.2003)
Published in Breast cancer research and treatment (01.09.2003)
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Association of the germline BRCA2 missense variation Glu2663Lys with high sensitivity to trabectedin-based treatment in soft tissue sarcoma
Miolo, Gianmaria, Viel, Alessandra, Canzonieri, Vincenzo, Baresic, Tania, Buonadonna, Angela, Santeufemia, Davide Adriano, Lara, Della Puppa, Corona, Giuseppe
Published in Cancer biology & therapy (02.10.2016)
Published in Cancer biology & therapy (02.10.2016)
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Amsterdam criteria II and endometrial cancer index cases for an accurate selection of HNPCC families
Fornasarig, Mara, Viel, Alessandra, Bidoli, Ettore, Campagnutta, Elio, Minisini, Alessandro Marco, Cannizzaro, Renato, Della Puppa, Lara, Boiocchi, Mauro
Published in Tumori (01.01.2002)
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Published in Tumori (01.01.2002)
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FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor
Peterlongo, Paolo, Catucci, Irene, Colombo, Mara, Caleca, Laura, Mucaki, Eliseos, Bogliolo, Massimo, Marin, Maria, Damiola, Francesca, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, Dall'Olio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald, Sornin, Valérie, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M, Mitchell, Gillian, James, Paul A, Thompson, Ella, Marchetti, Marina, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio, Medici, Veronica, Marchi, Isabella, Federico, Massimo, Tognazzo, Silvia, Matricardi, Laura, Agata, Simona, Dolcetti, Riccardo, Puppa, Lara Della, Cini, Giulia, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard, Roversi, Gaia, Silvestri, Valentina, Rizzolo, Piera, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana, Tommasi, Stefania, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A, Renieri, Alessandra, Varesco, Liliana, Couch, Fergus J, Wang, Xianshu, Devilee, Peter, Hilbers, Florentine S, van Asperen, Christi J, Viel, Alessandra, Montagna, Marco, Cortesi, Laura, Diez, Orland, Balmaña, Judith, Hauke, Jan, Schmutzler, Rita K, Papi, Laura, Pujana, Miguel Angel, Lázaro, Conxi, Falanga, Anna, Offit, Kenneth, Vijai, Joseph, Campbell, Ian, Burwinkel, Barbara, Kvist, Anders, Ehrencrona, Hans, Mazoyer, Sylvie, Pizzamiglio, Sara, Verderio, Paolo, Surralles, Jordi, Rogan, Peter K, Radice, Paolo
Published in Human molecular genetics (2015)
Published in Human molecular genetics (2015)
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Prevalence ofBRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectableBRCA1 andBRCA2 point mutations
Agata, Simona, Viel, Alessandra, Puppa, Lara Della, Cortesi, Laura, Fersini, Giusi, Callegaro, Monia, Palma, Maurizia Dalla, Dolcetti, Riccardo, Federico, Massimo, Venuta, Salvatore, Miolo, Gianmaria, D'Andrea, Emma, Montagna, Marco
Published in Genes chromosomes & cancer (01.09.2006)
Published in Genes chromosomes & cancer (01.09.2006)
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Journal Article
Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in northeast of Italy
Miolo, GianMaria, Puppa, Lara Della, Santarosa, Manuela, De Giacomi, Clelia, Veronesi, Andrea, Bidoli, Ettore, Tibiletti, Maria Grazia, Viel, Alessandra, Dolcetti, Riccardo
Published in BMC cancer (01.01.2006)
Published in BMC cancer (01.01.2006)
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Journal Article
Different molecular mechanisms underlie genomic deletions in theMLH1 Gene
Viel, Alessandra, Petronzelli, Fiorella, Puppa, Lara Della, Lucci-Cordisco, Emanuela, Fornasarig, Mara, Pucciarelli, Salvatore, Rovella, Valentina, Quaia, Michele, de Leon, Maurizio Ponz, Boiocchi, Mauro, Genuardi, Maurizio
Published in Human mutation (01.11.2002)
Published in Human mutation (01.11.2002)
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Journal Article
Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer
Viel, A, Novella, E, Genuardi, M, Capozzi, E, Fornasarig, M, Pedroni, M, Santarosa, M, De Leon, M P, Della Puppa, L, Anti, M, Boiocchi, M
Published in International journal of oncology (01.09.1998)
Published in International journal of oncology (01.09.1998)
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