Genuardi, Maurizio
Genuardi, Maurizio
ROMA - Dipartimento di Scienze della vita e sanità pubblica
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making
2022-01-01 Leoni, C.; Paradiso, F. V.; Foschi, N.; Tedesco, M.; Pierconti, F.; Silvaroli, S.; Diego, M. D.; Birritella, L.; Pantaleoni, F.; Rendeli, C.; Onesimo, R.; Viscogliosi, G.; Bassi, P.; Nanni, L.; Genuardi, M.; Tartaglia, M.; Zampino, G.
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families
2021-01-01 Capoluongo, E; De Matteis, E; Cucinotto, I; Ronzino, G; Santonocito, C; Tornesello, A; De Giorgio, Mr; Lucci Cordisco, E; Minucci, A; Genuardi, M.
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis
2021-01-01 Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, V.; Pucci, C.; Musto, E.; Pane, M.; Mercuri, E. M.; Neri, G.; Genuardi, M.; Chiurazzi, P.; Zollino, M.
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis
2021-01-01 Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, V.; Pucci, C.; Musto, E.; Pane, M.; Mercuri, E. M.; Neri, G.; Genuardi, M.; Chiurazzi, P.; Zollino, M.
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization
2021-01-01 Tabolacci, E; Molinario, C; Marangi, G; Nobile, V; Arena, V; Mendes, Mi; Smith, Dec; Salomons, Gs; Tana, M; Costa, S; Vento, G; Genuardi, M.
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families
2020-01-01 Capoluongo, E.; De Matteis, E.; Cucinotto, I.; Ronzino, G.; Santonocito, C.; Tornesello, A.; De Giorgio, M. R.; Lucci Cordisco, E.; Minucci, A.; Genuardi, M.
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
2020-01-01 Nobile, V.; Palumbo, F.; Lanni, S.; Ghisio, V.; Vitali, A.; Castagnola, M.; Marzano, V.; Maulucci, G.; De Angelis, C.; De Spirito, M.; Pacini, L.; D'Andrea, L.; Ragno, R.; Stazi, G.; Valente, S.; Mai, A.; Chiurazzi, P.; Genuardi, M.; Neri, G.; Tabolacci, E.
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report
2020-01-01 Novelli, V.; Bisignani, A.; Pelargonio, G.; Primiano, G.; Narducci, M. L.; Palmieri, V.; Tiziano, F. D.; Zeppilli, P.; Servidei, S.; Crea, F.; Genuardi, M.
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers
2020-01-01 Marangi, G.; Garcovich, S.; Di Sante, G.; Orteschi, D.; Frangella, S.; Scaldaferri, F.; Genuardi, M.; Peris, K.; Gurrieri, F.; Zollino, M.
Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy
2020-01-01 Pastorino, R.; Basile, M.; Tognetto, A.; Di Marco, M.; Grossi, A.; Lucci-Cordisco, E.; Scaldaferri, F.; de Censi, A.; Federici, A.; Villari, P.; Genuardi, M.; Ricciardi, W.; Boccia, S.
Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3
2020-01-01 Buccarelli, Mariachiara; Lulli, Valentina; Giuliani, Alessandro; Signore, Michele; Martini, Maurizio; D'Alessandris, Quintino G; Giannetti, Stefano; Novelli, Agnese; Ilari, Ramona; Giurato, Giorgio; Boe, Alessandra; Castellani, Giorgia; Spartano, Serena; Marangi, Giuseppe; Biffoni, Mauro; Genuardi, Maurizio; Pallini, Roberto; Marziali, Giovanna; Ricci-Vitiani, Lucia
DNA Methylation in the Diagnosis of Monogenic Diseases.
2020-01-01 Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, F; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, F; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, E; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, E; Torrente, I; Genuardi, M; Neri, G; Riccio, A.
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization
2020-01-01 Tabolacci, E.; Molinario, C.; Marangi, G.; Nobile, V.; Arena, V.; Mendes, M. I.; Smith, D. E. C.; Salomons, G. S.; Tana, M.; Costa, S.; Vento, G.; Genuardi, M.
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1
2020-01-01 Pastorino, L; Andreotti, V; Dalmasso, B; Vanni, I; Ciccarese, G; Mandalà, M; Spadola, G; Pizzichetta, Ma; Ponti, G; Tibiletti, Mg; Sala, E; Genuardi, M; Chiurazzi, P; Maccanti, G; Manoukian, S; Sestini, S; Danesi, R; Zampiga, V; La Starza, R; Stanganelli, I; Ballestrero, A; Mastracci, L; Grillo, F; Sciallero, S; Cecchi, F; Tanda, Et; Spagnolo, F; Queirolo, P; Italian Melanoma Intergroup, (IMI); Goldstein, Am; Bruno, W; Ghiorzo, P.
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach
2020-01-01 Di Pietro, Maria Luisa; Zace, Drieda; Orfino, Alessia; Romana Di Raimo, Francesca; Poscia, Andrea; De Matteis, Elisabetta; Turchetti, Daniela; Godino, Lea; Bertonazzi, Benedetta; Franiuk, Marzena; Bruzzone, Carla; Varesco, Liliana; Lucci Cordisco, Emanuela; Genuardi, Maurizio
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles
2020-01-01 Leoni, C.; Guerriero, C.; Onesimo, R.; Coco, V.; Di Ruscio, C.; Acampora, A.; Esposito, I.; Romano, A.; Tartaglia, M.; Genuardi, M.; Zampino, G.
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families
2020-01-01 Tabolacci, Elisabetta; Pietrobono, Roberta; Maneri, Giulia; Remondini, Laura; Nobile, Veronica; Della Monica, Matteo; Pomponi, Maria Grazia; Genuardi, Maurizio; Neri, Giovanni; Chiurazzi, Pietro
Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias
2020-01-01 Narducci, M. L.; Pelargonio, G.; La Rosa, G.; Inzani, F.; d'Amati, G.; Novelli, V.; Marano, R.; Perna, F.; Bencardino, G.; Pinnacchio, G.; Genuardi, M.; Cammarano, M.; Palmieri, V.; Zeppilli, P.; Crea, F.
The current practice of lynch syndrome diagnosis and management in Italy: A qualitative assessment
2020-01-01 Tognetto, A.; Pastorino, R.; Castorina, S.; Condorelli, D. F.; Decensi, A.; De Vito, C.; Magnano, A.; Scaldaferri, F.; Villari, P.; Genuardi, M.; Boccia, S.
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report
2019-01-01 Grippaudo, Cristina; Cafiero, Concetta; D'Apolito, Isabella; Re, Agnese; Genuardi, Maurizio; Chiurazzi, Pietro; Frazier-Bowers, Sylvia A.
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2022 | Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making | Leoni, C.; Paradiso, F. V.; Foschi, N.; Tedesco, M.; Pierconti, F.; Silvaroli, S.; Diego, M. D.; Birritella, L.; Pantaleoni, F.; Rendeli, C.; Onesimo, R.; Viscogliosi, G.; Bassi, P.; Nanni, L.; Genuardi, M.; Tartaglia, M.; Zampino, G. | |
| 1-gen-2021 | 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, Mr; Lucci Cordisco, E; Minucci, A; Genuardi, M. | |
| 1-gen-2021 | Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis | Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, V.; Pucci, C.; Musto, E.; Pane, M.; Mercuri, E. M.; Neri, G.; Genuardi, M.; Chiurazzi, P.; Zollino, M. | |
| 1-gen-2021 | Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis | Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, V.; Pucci, C.; Musto, E.; Pane, M.; Mercuri, E. M.; Neri, G.; Genuardi, M.; Chiurazzi, P.; Zollino, M. | |
| 1-gen-2021 | Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization | Tabolacci, E; Molinario, C; Marangi, G; Nobile, V; Arena, V; Mendes, Mi; Smith, Dec; Salomons, Gs; Tana, M; Costa, S; Vento, G; Genuardi, M. | |
| 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 | Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene | Nobile, V.; Palumbo, F.; Lanni, S.; Ghisio, V.; Vitali, A.; Castagnola, M.; Marzano, V.; Maulucci, G.; De Angelis, C.; De Spirito, M.; Pacini, L.; D'Andrea, L.; Ragno, R.; Stazi, G.; Valente, S.; Mai, A.; Chiurazzi, P.; Genuardi, M.; Neri, G.; Tabolacci, E. | |
| 1-gen-2020 | Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report | Novelli, V.; Bisignani, A.; Pelargonio, G.; Primiano, G.; Narducci, M. L.; Palmieri, V.; Tiziano, F. D.; Zeppilli, P.; Servidei, S.; Crea, F.; Genuardi, M. | |
| 1-gen-2020 | Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers | Marangi, G.; Garcovich, S.; Di Sante, G.; Orteschi, D.; Frangella, S.; Scaldaferri, F.; Genuardi, M.; Peris, K.; Gurrieri, F.; Zollino, M. | |
| 1-gen-2020 | Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy | Pastorino, R.; Basile, M.; Tognetto, A.; Di Marco, M.; Grossi, A.; Lucci-Cordisco, E.; Scaldaferri, F.; de Censi, A.; Federici, A.; Villari, P.; Genuardi, M.; Ricciardi, W.; Boccia, S. | |
| 1-gen-2020 | Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3 | Buccarelli, Mariachiara; Lulli, Valentina; Giuliani, Alessandro; Signore, Michele; Martini, Maurizio; D'Alessandris, Quintino G; Giannetti, Stefano; Novelli, Agnese; Ilari, Ramona; Giurato, Giorgio; Boe, Alessandra; Castellani, Giorgia; Spartano, Serena; Marangi, Giuseppe; Biffoni, Mauro; Genuardi, Maurizio; Pallini, Roberto; Marziali, Giovanna; Ricci-Vitiani, Lucia | |
| 1-gen-2020 | DNA Methylation in the Diagnosis of Monogenic Diseases. | Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, F; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, F; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, E; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, E; Torrente, I; Genuardi, M; Neri, G; Riccio, A. | |
| 1-gen-2020 | Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization | Tabolacci, E.; Molinario, C.; Marangi, G.; Nobile, V.; Arena, V.; Mendes, M. I.; Smith, D. E. C.; Salomons, G. S.; Tana, M.; Costa, S.; Vento, G.; Genuardi, M. | |
| 1-gen-2020 | Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 | Pastorino, L; Andreotti, V; Dalmasso, B; Vanni, I; Ciccarese, G; Mandalà, M; Spadola, G; Pizzichetta, Ma; Ponti, G; Tibiletti, Mg; Sala, E; Genuardi, M; Chiurazzi, P; Maccanti, G; Manoukian, S; Sestini, S; Danesi, R; Zampiga, V; La Starza, R; Stanganelli, I; Ballestrero, A; Mastracci, L; Grillo, F; Sciallero, S; Cecchi, F; Tanda, Et; Spagnolo, F; Queirolo, P; Italian Melanoma Intergroup, (IMI); Goldstein, Am; Bruno, W; Ghiorzo, P. | |
| 1-gen-2020 | Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach | Di Pietro, Maria Luisa; Zace, Drieda; Orfino, Alessia; Romana Di Raimo, Francesca; Poscia, Andrea; De Matteis, Elisabetta; Turchetti, Daniela; Godino, Lea; Bertonazzi, Benedetta; Franiuk, Marzena; Bruzzone, Carla; Varesco, Liliana; Lucci Cordisco, Emanuela; Genuardi, Maurizio | |
| 1-gen-2020 | Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles | Leoni, C.; Guerriero, C.; Onesimo, R.; Coco, V.; Di Ruscio, C.; Acampora, A.; Esposito, I.; Romano, A.; Tartaglia, M.; Genuardi, M.; Zampino, G. | |
| 1-gen-2020 | Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families | Tabolacci, Elisabetta; Pietrobono, Roberta; Maneri, Giulia; Remondini, Laura; Nobile, Veronica; Della Monica, Matteo; Pomponi, Maria Grazia; Genuardi, Maurizio; Neri, Giovanni; Chiurazzi, Pietro | |
| 1-gen-2020 | Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias | Narducci, M. L.; Pelargonio, G.; La Rosa, G.; Inzani, F.; d'Amati, G.; Novelli, V.; Marano, R.; Perna, F.; Bencardino, G.; Pinnacchio, G.; Genuardi, M.; Cammarano, M.; Palmieri, V.; Zeppilli, P.; Crea, F. | |
| 1-gen-2020 | The current practice of lynch syndrome diagnosis and management in Italy: A qualitative assessment | Tognetto, A.; Pastorino, R.; Castorina, S.; Condorelli, D. F.; Decensi, A.; De Vito, C.; Magnano, A.; Scaldaferri, F.; Villari, P.; Genuardi, M.; Boccia, S. | |
| 1-gen-2019 | A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report | Grippaudo, Cristina; Cafiero, Concetta; D'Apolito, Isabella; Re, Agnese; Genuardi, Maurizio; Chiurazzi, Pietro; Frazier-Bowers, Sylvia A. |