RIZZO, ROBERTA
RIZZO, ROBERTA
SCIENZE BIOMEDICHE E BIOTECNOLOGICHE
Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy
2025-01-01 Falsaperla, Raffaele; Di Salvo, Eliana; Sapuppo, Annamaria; Barberi, Chiara; Sortino, Vincenzo; Fusto, Gaia; Rizzo, Roberta; Pappalardo, Xena Giada; Corsello, Giovanni; Ruggieri, Martino; Romano, Catia; Saccuzzo, Lucia; Fichera, Marco; Bonaglia, Maria Clara
Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1
2025-01-01 Lo Bianco, Manuela; Sipala, Federica; Pappalardo, Xena Giada; Fusto, Gaia; Rizzo, Roberta; Favata, Federico; Cimino, Carla; Marino, Silvia; Ruggieri, Martino; Suppiej, Agnese; Ronsisvalle, Simone; Falsaperla, Raffaele
Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
2022-01-01 Lavoro, Alessandro; Scalisi, Aurora; Candido, Saverio; Zanghì, Guido; Rizzo, Roberta; Gattuso, Giuseppe; Caruso, Giuseppe; Libra, Massimo; Falzone, Luca
Liquid Biopsy and Circulating Biomarkers for the Diagnosis of Precancerous and Cancerous Oral Lesions
2022-01-01 Gattuso, G.; Crimi, S.; Lavoro, A.; Rizzo, R.; Musumarra, G.; Gallo, S.; Facciponte, F.; Paratore, S.; Russo, A.; Bordonaro, R.; Isola, G.; Bianchi, A.; Libra, M.; Falzone, L.
Overview of the Clinical and Molecular Features of Legionella Pneumophila: Focus on Novel Surveillance and Diagnostic Strategies
2022-01-01 Gattuso, Giuseppe; Rizzo, Roberta; Lavoro, Alessandro; Spoto, Vincenzoleo; Porciello, Giuseppe; Montagnese, Concetta; Cinà, Diana; Cosentino, Alessia; Lombardo, Cinzia; Mezzatesta, Maria Lina; Salmeri, Mario
PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?
2025-01-01 Falsaperla, Raffaele; Sapuppo, Annamaria; Pappalardo, Xena Giada; Rizzo, Roberta; Rocca, Roberta; Fusto, Gaia; Marino, Silvia; Sortino, Vincenzo; Saccuzzo, Lucia; Ruggieri, Martino; Fichera, Marco
PURA-Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review
2024-01-01 Falsaperla, Raffaele; Sortino, Vincenzo; Schinocca, Marina Antonietta; Fusto, Gaia; Rizzo, Roberta; Barberi, Chiara; Ruggieri, Martino; Pappalardo, Xena Giada
The Many Faces of Child Abuse: How Clinical, Genetic and Epigenetic Correlates Help Us See the Full Picture
file da validare2025-01-01 Parano, Enrico; Pavone, Vito; Ruggieri, Martino; Castagnola, Iside; Ettore, Giuseppe; Fusto, Gaia; Rizzo, Roberta; Pavone, Piero
WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review
file da validare2026-01-01 Sapuppo, Annamaria; Rizzo, Roberta; Fusto, Gaia; Rocca, Roberta; Sortino, Vincenzo; Pappalardo, Xena Giada; Ruggieri, Martino; Falsaperla, Raffaele
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy | 1-gen-2025 | Falsaperla, Raffaele; Di Salvo, Eliana; Sapuppo, Annamaria; Barberi, Chiara; Sortino, Vincenzo; Fusto, Gaia; Rizzo, Roberta; Pappalardo, Xena Giada; Corsello, Giovanni; Ruggieri, Martino; Romano, Catia; Saccuzzo, Lucia; Fichera, Marco; Bonaglia, Maria Clara | |
| Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1 | 1-gen-2025 | Lo Bianco, Manuela; Sipala, Federica; Pappalardo, Xena Giada; Fusto, Gaia; Rizzo, Roberta; Favata, Federico; Cimino, Carla; Marino, Silvia; Ruggieri, Martino; Suppiej, Agnese; Ronsisvalle, Simone; Falsaperla, Raffaele | |
| Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families? | 1-gen-2022 | Lavoro, Alessandro; Scalisi, Aurora; Candido, Saverio; Zanghì, Guido; Rizzo, Roberta; Gattuso, Giuseppe; Caruso, Giuseppe; Libra, Massimo; Falzone, Luca | |
| Liquid Biopsy and Circulating Biomarkers for the Diagnosis of Precancerous and Cancerous Oral Lesions | 1-gen-2022 | Gattuso, G.; Crimi, S.; Lavoro, A.; Rizzo, R.; Musumarra, G.; Gallo, S.; Facciponte, F.; Paratore, S.; Russo, A.; Bordonaro, R.; Isola, G.; Bianchi, A.; Libra, M.; Falzone, L. | |
| Overview of the Clinical and Molecular Features of Legionella Pneumophila: Focus on Novel Surveillance and Diagnostic Strategies | 1-gen-2022 | Gattuso, Giuseppe; Rizzo, Roberta; Lavoro, Alessandro; Spoto, Vincenzoleo; Porciello, Giuseppe; Montagnese, Concetta; Cinà, Diana; Cosentino, Alessia; Lombardo, Cinzia; Mezzatesta, Maria Lina; Salmeri, Mario | |
| PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy? | 1-gen-2025 | Falsaperla, Raffaele; Sapuppo, Annamaria; Pappalardo, Xena Giada; Rizzo, Roberta; Rocca, Roberta; Fusto, Gaia; Marino, Silvia; Sortino, Vincenzo; Saccuzzo, Lucia; Ruggieri, Martino; Fichera, Marco | |
| PURA-Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review | 1-gen-2024 | Falsaperla, Raffaele; Sortino, Vincenzo; Schinocca, Marina Antonietta; Fusto, Gaia; Rizzo, Roberta; Barberi, Chiara; Ruggieri, Martino; Pappalardo, Xena Giada | |
| The Many Faces of Child Abuse: How Clinical, Genetic and Epigenetic Correlates Help Us See the Full Picture | 1-gen-2025 | Parano, Enrico; Pavone, Vito; Ruggieri, Martino; Castagnola, Iside; Ettore, Giuseppe; Fusto, Gaia; Rizzo, Roberta; Pavone, Piero | file da validare |
| WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review | 1-gen-2026 | Sapuppo, Annamaria; Rizzo, Roberta; Fusto, Gaia; Rocca, Roberta; Sortino, Vincenzo; Pappalardo, Xena Giada; Ruggieri, Martino; Falsaperla, Raffaele | file da validare |