Sfoglia per Autore
Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis
2020 Minucci, A.; Mazzuccato, G.; D'Indinosante, M.; Di Nardo, L.; Concolino, P.; De Bonis, M.; Urbani, A.; Scambia, G.; Fagotti, A.; Capoluongo, E.
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families
2020 Capoluongo, E.; De Matteis, E.; Cucinotto, I.; Ronzino, G.; Santonocito, C.; Tornesello, A.; De Giorgio, M. R.; Lucci Cordisco, E.; Minucci, A.; Genuardi, M.
Detecting Large Germline Rearrangements of BRCA1 by Next Generation Tumor Sequencing
2020 Minucci, Angelo; Mazzuccato, G.; Marchetti, Claudia; Pietragalla, A.; Scambia, Giovanni; Fagotti, Anna; Urbani, Andrea
Feasibility of tumor testing for BRCA status in high-grade serous ovarian cancer using fresh-frozen tissue based approach
2020 Marchetti, Claudia; Minucci, Angelo; D'Indinosante, Marco; Ergasti, Raffaella; Arcieri, M.; Capoluongo, Ettore Domenico; Pietragalla, A.; Caricato, C.; Scambia, Giovanni; Fagotti, Anna
BRCA testing delay during the COVID-19 pandemic: How to act?
2020 Minucci, Angelo; Scambia, Giovanni; De Bonis, M.; De Paolis, E.; Santonocito, Concetta; Fagotti, Anna; Capoluongo, Ettore Domenico; Concolino, Paola; Urbani, A.
High resolution melting profiles (HRMPs) obtained by magnetic induction cycler (MIC) have been used to monitor the BRCA2 status highlighted by next generation tumor sequencing (NGTS): a combined approach in a diagnostic environment
2020 Mazzuccato, G.; De Bonis, M.; Carboni, V.; Marchetti, Claudia; Urbani, Andrea; Scambia, Giovanni; Capoluongo, Ettore Domenico; Fagotti, Anna; Minucci, Angelo
Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant
2019 Minucci, Angelo; Lalle, M; De Leo, R; Mazzuccato, G; Scambia, Giovanni; Urbani, Andrea; Fagotti, Anna; Concolino, P; Capoluongo, E
Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients
2019 Rizza, R; Hackmann, K; Paris, I; Minucci, A; De Leo, R; Schrock, E; Urbani, A; Capoluongo, E; Gelli, G; Concolino, P
Prognostic factors value of germline and somatic brca in patients undergoing surgery for recurrent ovarian cancer with liver metastases
2019 Gallotta, Valerio; Conte, Caterina; D'Indinosante, Marco; Capoluongo, E.; Minucci, Angelo; De Rose, A. M.; Ardito, Francesco; Giuliante, Felice; Di Giorgio, A.; Zannoni, Gian Franco; Fagotti, Anna; Margreiter, C.; Scambia, Giovanni; Ferrandina, Maria Gabriella
Molecular basis of favism triggered by ingestion of frozen pumpkin cross-contaminated with fava beans
2019 Minucci, Angelo; Onori, Me; Mazzuccato, G; Urbani, Andrea; Capoluongo, E
A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass
2018 Ferraro, Pietro Manuel; Minucci, Angelo; Primiano, Aniello; De Paolis, Elisa; Gervasoni, Jacopo; Persichilli, Silvia; Naticchia, Alessandro; Capoluongo, Ettore Domenico; Gambaro, Giovanni
BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study
2018 Marchetti, Claudia; De Leo, Rossella; Musella, Angela; D'Indinosante, Marco; Capoluongo, Ettore Domenico; Minucci, Angelo; Benedetti Panici, Pierluigi; Scambia, Giovanni; Fagotti, Anna
In silico investigation of the molecular effects caused by R123H variant in secretory phospholipase A2-IIA associated with ARDS
2018 Righino, B; Minucci, A; Pirolli, D; Capoluongo, E; Conti, G; De Luca, D; De Rosa, Mc
High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report
2018 Costella, Alessandra; De Leo, Rossella; Guarino, Donatella; D'Indinosante, Marco; Concolino, Paola; Mazzuccato, Giorgia; Urbani, Andrea; Scambia, Giovanni; Capoluongo, Ettore Domenico; Fagotti, Anna; Minucci, Angelo
Medullary thyroid carcinoma with exon 2 p. L56M RET variant: Clinical particular features in two patients
2018 Paragliola, Rosa Maria; Lovicu, Rosa M.; Papi, Giampaolo; Capoluongo, Ettore Domenico; Minucci, Angelo; Canu, Giulia; Pontecorvi, Alfredo; Corsello, Salvatore Maria
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
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
UGT1A1 Polymorphism and Mortality Outcome after Allogeneic Stem Cell Transplantation with Busulfan Based Regimen
2017 Chiusolo, Patrizia; Minucci, Angelo; Metafuni, Elisabetta; Giammarco, Sabrina; Rossi, Monica; Minnella, Gessica; Zuppi, Cecilia; Urbani, Andrea; Bacigalupo, Andrea; Capoluongo, Ettore Domenico; Sica, Simona
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.
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
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2020 | Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis | Minucci, A.; Mazzuccato, G.; D'Indinosante, M.; Di Nardo, L.; Concolino, P.; De Bonis, M.; Urbani, A.; Scambia, G.; Fagotti, A.; Capoluongo, E. | |
| 1-gen-2020 | A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families | Capoluongo, E.; De Matteis, E.; Cucinotto, I.; Ronzino, G.; Santonocito, C.; Tornesello, A.; De Giorgio, M. R.; Lucci Cordisco, E.; Minucci, A.; Genuardi, M. | |
| 1-gen-2020 | Detecting Large Germline Rearrangements of BRCA1 by Next Generation Tumor Sequencing | Minucci, Angelo; Mazzuccato, G.; Marchetti, Claudia; Pietragalla, A.; Scambia, Giovanni; Fagotti, Anna; Urbani, Andrea | |
| 1-gen-2020 | Feasibility of tumor testing for BRCA status in high-grade serous ovarian cancer using fresh-frozen tissue based approach | Marchetti, Claudia; Minucci, Angelo; D'Indinosante, Marco; Ergasti, Raffaella; Arcieri, M.; Capoluongo, Ettore Domenico; Pietragalla, A.; Caricato, C.; Scambia, Giovanni; Fagotti, Anna | |
| 1-gen-2020 | BRCA testing delay during the COVID-19 pandemic: How to act? | Minucci, Angelo; Scambia, Giovanni; De Bonis, M.; De Paolis, E.; Santonocito, Concetta; Fagotti, Anna; Capoluongo, Ettore Domenico; Concolino, Paola; Urbani, A. | |
| 1-gen-2020 | High resolution melting profiles (HRMPs) obtained by magnetic induction cycler (MIC) have been used to monitor the BRCA2 status highlighted by next generation tumor sequencing (NGTS): a combined approach in a diagnostic environment | Mazzuccato, G.; De Bonis, M.; Carboni, V.; Marchetti, Claudia; Urbani, Andrea; Scambia, Giovanni; Capoluongo, Ettore Domenico; Fagotti, Anna; Minucci, Angelo | |
| 1-gen-2019 | Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant | Minucci, Angelo; Lalle, M; De Leo, R; Mazzuccato, G; Scambia, Giovanni; Urbani, Andrea; Fagotti, Anna; Concolino, P; Capoluongo, E | |
| 1-gen-2019 | Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients | Rizza, R; Hackmann, K; Paris, I; Minucci, A; De Leo, R; Schrock, E; Urbani, A; Capoluongo, E; Gelli, G; Concolino, P | |
| 1-gen-2019 | Prognostic factors value of germline and somatic brca in patients undergoing surgery for recurrent ovarian cancer with liver metastases | Gallotta, Valerio; Conte, Caterina; D'Indinosante, Marco; Capoluongo, E.; Minucci, Angelo; De Rose, A. M.; Ardito, Francesco; Giuliante, Felice; Di Giorgio, A.; Zannoni, Gian Franco; Fagotti, Anna; Margreiter, C.; Scambia, Giovanni; Ferrandina, Maria Gabriella | |
| 1-gen-2019 | Molecular basis of favism triggered by ingestion of frozen pumpkin cross-contaminated with fava beans | Minucci, Angelo; Onori, Me; Mazzuccato, G; Urbani, Andrea; Capoluongo, E | |
| 1-gen-2018 | A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass | Ferraro, Pietro Manuel; Minucci, Angelo; Primiano, Aniello; De Paolis, Elisa; Gervasoni, Jacopo; Persichilli, Silvia; Naticchia, Alessandro; Capoluongo, Ettore Domenico; Gambaro, Giovanni | |
| 1-gen-2018 | BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study | Marchetti, Claudia; De Leo, Rossella; Musella, Angela; D'Indinosante, Marco; Capoluongo, Ettore Domenico; Minucci, Angelo; Benedetti Panici, Pierluigi; Scambia, Giovanni; Fagotti, Anna | |
| 1-gen-2018 | In silico investigation of the molecular effects caused by R123H variant in secretory phospholipase A2-IIA associated with ARDS | Righino, B; Minucci, A; Pirolli, D; Capoluongo, E; Conti, G; De Luca, D; De Rosa, Mc | |
| 1-gen-2018 | High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report | Costella, Alessandra; De Leo, Rossella; Guarino, Donatella; D'Indinosante, Marco; Concolino, Paola; Mazzuccato, Giorgia; Urbani, Andrea; Scambia, Giovanni; Capoluongo, Ettore Domenico; Fagotti, Anna; Minucci, Angelo | |
| 1-gen-2018 | Medullary thyroid carcinoma with exon 2 p. L56M RET variant: Clinical particular features in two patients | Paragliola, Rosa Maria; Lovicu, Rosa M.; Papi, Giampaolo; Capoluongo, Ettore Domenico; Minucci, Angelo; Canu, Giulia; Pontecorvi, Alfredo; Corsello, Salvatore Maria | |
| 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-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-2017 | UGT1A1 Polymorphism and Mortality Outcome after Allogeneic Stem Cell Transplantation with Busulfan Based Regimen | Chiusolo, Patrizia; Minucci, Angelo; Metafuni, Elisabetta; Giammarco, Sabrina; Rossi, Monica; Minnella, Gessica; Zuppi, Cecilia; Urbani, Andrea; Bacigalupo, Andrea; Capoluongo, Ettore Domenico; Sica, Simona | |
| 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-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 |
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