De Bonis, Maria
De Bonis, Maria
Enhanced Detection of BRCA Copy Number Alterations Within a Commercial HRD Assay: Implications for Precision Oncology in Ovarian Cancer
2026 De Bonis, Maria; Iapicca, P.; De Paolis, Elisa; Brisighelli, Francesca; Evangelista, J.; Perrucci, A.; Ricciardi Tenore, C.; Maneri, G.; Concolino, Paola; Piermattei, A.; Mozzetta, I.; Pasciuto, Tina; Preziosi, A.; Giaco, L.; Duranti, S.; Nero, Camilla; Fagotti, Anna; Minucci, Angelo
Benefit from maintenance with PARP inhibitor in newly diagnosed ovarian cancer according to BRCA1/2 mutation type and site: a multicenter real-world study
2025 Marchetti, Claudia; Fagotti, Anna; Fruscio, R.; Cassani, C.; Incorvaia, L.; Perri, M. T.; Sassu, Carolina Maria; Camnasio, C. A.; Giudice, E.; Minucci, Angelo; Seca, M.; Arbustini, E.; Vertechy, L.; De Bonis, Maria; Boccia, Serena Maria; Giannarelli, Diana; Salutari, Vanda; Distefano, Mimosa; Ferrandina, Maria Gabriella; Nero, Camilla; Musacchio, L.; Russo, A.; Scambia, Giovanni; Lorusso, Domenica
Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study
2025 Perrucci, A.; De Bonis, Maria; Maneri, G.; Ricciardi Tenore, C.; Concolino, Paola; Corsi, M.; Conca, A.; Evangelista, J.; Piermattei, Angelo; Nero, Camilla; Giaco, L.; De Paolis, Elisa; Fagotti, Anna; Minucci, Angelo
Identification of a False-positive Multiplex Ligation-dependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay
2024 Concolino, Paola; De Paolis, Elisa; Rinelli, M.; Maneri, G.; Brisighelli, Francesca; Trozzi, Rita; Duranti, S.; Giaco, L.; Piane, M.; Preziosi, A.; Panfili, A.; Scambia, Giovanni; Nero, Camilla; De Bonis, Maria; Minucci, Angelo
Multiple Sclerosis Onset before and after COVID-19 Vaccination: Can HLA Haplotype Be Determinant?
2024 Bianco, Assunta; Di Sante, Gabriele; Colò, Francesca; De Arcangelis, Valeria; Cicia, Alessandra; Del Giacomo, Paola; De Bonis, Maria; Morganti, Tommaso Giuseppe; Carlomagno, Vincenzo; Lucchini, Matteo; Minucci, Angelo; Calabresi, Paolo; Mirabella, Massimiliano
The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?
2024 Chiloiro, Sabrina; Capoluongo, Ettore Domenico; Costanza, Flavia; Minucci, Angelo; Giampietro, Antonella; Infante, Amato; Milardi, Domenico; Ricciardi Tenore, C.; De Bonis, Maria; Gaudino, Simona; Rindi, Guido; Olivi, Alessandro; De Marinis, L.; Pontecorvi, Alfredo; Doglietto, Francesco; Bianchi, Antonio
A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH)
2018 De Paolis, Elisa; Minucci, Angelo; De Bonis, Maria; Scaglione, Giovanni Luca; Gervasoni, Jacopo; Primiano, Aniello; Ferraro, Pietro Manuel; Cappellani, Daniele; Marcocci, Claudio; Gambaro, Giovanni; Capoluongo, Ettore Domenico
A whole germline BRCA2 gene deletion: How to learn from CNV in silico analysis
2018 Scaglione, Giovanni Luca; Concolino, Paola; De Bonis, Maria; De Paolis, Elisa; Minucci, Angelo; Ferrandina, Maria Gabriella; Scambia, Giovanni; Capoluongo, Ettore Domenico
Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory
2017 Minucci, Angelo; De Paolis, Elisa; Concolino, Paola; De Bonis, Maria; Rizza, Roberta; Canu, Giulia; Scaglione, Giovanni Luca; Mignone, F; Scambia, Giovanni; Zuppi, Cecilia; Capoluongo, Ettore Domenico
High Resolution Melting Analysis is Very Useful to Identify Breast Cancer Type 1 Susceptibility Protein (BRCA1) c.4964\_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA
2017 Minucci, Angelo; De Bonis, Maria; De Paolis, Elisa; Gentile, Leonarda; Santonocito, Concetta; Concolino, P; Mignone, F; Capoluongo, Ettore Domenico
Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome
2017 Concolino, P; Rizza, R; Hackmann, K; Minucci, A; Scaglione, Gl; De Bonis, M; Costella, A; Zuppi, C; Schrock, E; Capoluongo, E.
Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G > A/c.7008-2A > T genotype
2016 Minucci, Angelo; De Bonis, Maria; Costella, Alessandra; Scambia, Giovanni; Scandurra, Giuseppa; Capoluongo, Ettore Domenico
Red blood cell PK deficiency: An update of PK-LR gene mutation database
2016 Canu, Giulia; De Bonis, Maria; Minucci, Angelo; Capoluongo, Ettore Domenico
Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome
2015 Minucci, Angelo; Ruggiero, Antonio; Canu, Giulia; Maurizi, Palma; De Bonis, Maria; Concolino, Paola; De Luca, Daniele; Capoluongo, Ettore Domenico
Is capillary electrophoresis on microchip devices able to genotype uridine diphosphate glucuronosyltransferase 1A1 TATA-box polymorphisms?
2014 Minucci, Angelo; Canu, Giulia; De Bonis, Maria; Delibato, E; Capoluongo, Ettore Domenico
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2026 | Enhanced Detection of BRCA Copy Number Alterations Within a Commercial HRD Assay: Implications for Precision Oncology in Ovarian Cancer | De Bonis, Maria; Iapicca, P.; De Paolis, Elisa; Brisighelli, Francesca; Evangelista, J.; Perrucci, A.; Ricciardi Tenore, C.; Maneri, G.; Concolino, Paola; Piermattei, A.; Mozzetta, I.; Pasciuto, Tina; Preziosi, A.; Giaco, L.; Duranti, S.; Nero, Camilla; Fagotti, Anna; Minucci, Angelo | |
| 1-gen-2025 | Benefit from maintenance with PARP inhibitor in newly diagnosed ovarian cancer according to BRCA1/2 mutation type and site: a multicenter real-world study | Marchetti, Claudia; Fagotti, Anna; Fruscio, R.; Cassani, C.; Incorvaia, L.; Perri, M. T.; Sassu, Carolina Maria; Camnasio, C. A.; Giudice, E.; Minucci, Angelo; Seca, M.; Arbustini, E.; Vertechy, L.; De Bonis, Maria; Boccia, Serena Maria; Giannarelli, Diana; Salutari, Vanda; Distefano, Mimosa; Ferrandina, Maria Gabriella; Nero, Camilla; Musacchio, L.; Russo, A.; Scambia, Giovanni; Lorusso, Domenica | |
| 1-gen-2025 | Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study | Perrucci, A.; De Bonis, Maria; Maneri, G.; Ricciardi Tenore, C.; Concolino, Paola; Corsi, M.; Conca, A.; Evangelista, J.; Piermattei, Angelo; Nero, Camilla; Giaco, L.; De Paolis, Elisa; Fagotti, Anna; Minucci, Angelo | |
| 1-gen-2024 | Identification of a False-positive Multiplex Ligation-dependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay | Concolino, Paola; De Paolis, Elisa; Rinelli, M.; Maneri, G.; Brisighelli, Francesca; Trozzi, Rita; Duranti, S.; Giaco, L.; Piane, M.; Preziosi, A.; Panfili, A.; Scambia, Giovanni; Nero, Camilla; De Bonis, Maria; Minucci, Angelo | |
| 1-gen-2024 | Multiple Sclerosis Onset before and after COVID-19 Vaccination: Can HLA Haplotype Be Determinant? | Bianco, Assunta; Di Sante, Gabriele; Colò, Francesca; De Arcangelis, Valeria; Cicia, Alessandra; Del Giacomo, Paola; De Bonis, Maria; Morganti, Tommaso Giuseppe; Carlomagno, Vincenzo; Lucchini, Matteo; Minucci, Angelo; Calabresi, Paolo; Mirabella, Massimiliano | |
| 1-gen-2024 | The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype? | Chiloiro, Sabrina; Capoluongo, Ettore Domenico; Costanza, Flavia; Minucci, Angelo; Giampietro, Antonella; Infante, Amato; Milardi, Domenico; Ricciardi Tenore, C.; De Bonis, Maria; Gaudino, Simona; Rindi, Guido; Olivi, Alessandro; De Marinis, L.; Pontecorvi, Alfredo; Doglietto, Francesco; Bianchi, Antonio | |
| 1-gen-2018 | A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH) | De Paolis, Elisa; Minucci, Angelo; De Bonis, Maria; Scaglione, Giovanni Luca; Gervasoni, Jacopo; Primiano, Aniello; Ferraro, Pietro Manuel; Cappellani, Daniele; Marcocci, Claudio; Gambaro, Giovanni; Capoluongo, Ettore Domenico | |
| 1-gen-2018 | A whole germline BRCA2 gene deletion: How to learn from CNV in silico analysis | Scaglione, Giovanni Luca; Concolino, Paola; De Bonis, Maria; De Paolis, Elisa; Minucci, Angelo; Ferrandina, Maria Gabriella; Scambia, Giovanni; Capoluongo, Ettore Domenico | |
| 1-gen-2017 | Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory | Minucci, Angelo; De Paolis, Elisa; Concolino, Paola; De Bonis, Maria; Rizza, Roberta; Canu, Giulia; Scaglione, Giovanni Luca; Mignone, F; Scambia, Giovanni; Zuppi, Cecilia; Capoluongo, Ettore Domenico | |
| 1-gen-2017 | High Resolution Melting Analysis is Very Useful to Identify Breast Cancer Type 1 Susceptibility Protein (BRCA1) c.4964\_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA | Minucci, Angelo; De Bonis, Maria; De Paolis, Elisa; Gentile, Leonarda; Santonocito, Concetta; Concolino, P; Mignone, F; Capoluongo, Ettore Domenico | |
| 1-gen-2017 | Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome | Concolino, P; Rizza, R; Hackmann, K; Minucci, A; Scaglione, Gl; De Bonis, M; Costella, A; Zuppi, C; Schrock, E; Capoluongo, E. | |
| 1-gen-2016 | Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G > A/c.7008-2A > T genotype | Minucci, Angelo; De Bonis, Maria; Costella, Alessandra; Scambia, Giovanni; Scandurra, Giuseppa; Capoluongo, Ettore Domenico | |
| 1-gen-2016 | Red blood cell PK deficiency: An update of PK-LR gene mutation database | Canu, Giulia; De Bonis, Maria; Minucci, Angelo; Capoluongo, Ettore Domenico | |
| 1-gen-2015 | Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome | Minucci, Angelo; Ruggiero, Antonio; Canu, Giulia; Maurizi, Palma; De Bonis, Maria; Concolino, Paola; De Luca, Daniele; Capoluongo, Ettore Domenico | |
| 1-gen-2014 | Is capillary electrophoresis on microchip devices able to genotype uridine diphosphate glucuronosyltransferase 1A1 TATA-box polymorphisms? | Minucci, Angelo; Canu, Giulia; De Bonis, Maria; Delibato, E; Capoluongo, Ettore Domenico |