De Bonis, Maria

De Bonis, Maria  

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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
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, Gabriella; Scambia, Giovanni; Capoluongo, Ettore
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, A; De Paolis, E; Concolino, P; De Bonis, M; Rizza, R; Canu, G; Scaglione, Gl; Mignone, F; Scambia, G; Zuppi, C; 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, A; De Bonis, M; De Paolis, E; Gentile, L; Santonocito, C; Concolino, P; Mignone, F; Capoluongo, E.
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