Sfoglia per Autore
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
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.
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
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-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 | 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-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-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 |
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