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Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1
2020 Bigoni, S.; Marangi, G.; Frangella, S.; Panfili, A.; Ognibene, D.; Squeo, G. M.; Merla, G.; Zollino, M.
Cluster analysis in early axial spondyloarthritis predicts poor outcome in the presence of peripheral articular manifestations
2021 Costantino, Félicie; Aegerter, Philippe; Schett, Georg; De Craemer, Ann-Sophie; Molto, Anna; Van den Bosch, Filip; Elewaut, Dirk; Breban, Maxime; D'Agostino, Maria Antonietta
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS
2019 Lattante, Serena; Doronzio, Paolo Niccolo'; Marangi, Giuseppe; Conte, Amelia; Bisogni, Giulia; Bernardo, Daniela; Russo, Tommaso; Lamberti, Dante; Patrizi, Sara; Paolo Apollo, Francesco; Lunetta, Christian; Scarlino, Stefania; Pozzi, Laura; Zollino, Marcella; Riva, Nilo; Sabatelli, Mario
Constitutive expression of pathogenesis-related proteins and antioxydant enzyme activities triggers maize resistance towards Fusarium verticillioides
2016 Maschietto, Valentina; Lanubile, Alessandra; Leonardis, Silvana De; Marocco, Adriano; Paciolla, Costantino
CORRELATION BETWEEN THYMIDYLATE SYNTHASE (TS) mRNA EXPRESSION AND TS GENE PROMOTER POLYMORPHISMS IN PRIMARY COLORECTAL CANCER PATIENTS
2004 Morganti, Maria; Ciantelli, Monica; Giglioni, Beatrice; Putignano, Anna L.; Nobili, Stefania; Papi, Laura; Landini, Ida; Napoli, Cristina; Valanzano, Rosa; Cianchi, Fabio; Boddi, Vieri; Tonelli, Francesco; Cortesini, Camillo; Mazzei, Teresita; Genuardi, Maurizio; Mini, Enrico
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
2018 Lee, E.; Le, T.; Zhu, Y.; Elakis, G.; Turner, A.; Lo, W.; Venselaar, H.; Verrenkamp, C. -A.; Snow, N.; Mowat, D.; Kirk, E. P.; Sachdev, R.; Smith, J.; Brown, N. J.; Wallis, M.; Barnett, C.; Mckenzie, F.; Freckmann, M. -L.; Collins, F.; Chopra, M.; Gregersen, N.; Hayes, I.; Rajagopalan, S.; Tan, T. Y.; Stark, Z.; Savarirayan, R.; Yeung, A.; Ades, L.; Gattas, M.; Gibson, K.; Gabbett, M.; Amor, D. J.; Lattanzi, Wanda; Boyd, S.; Haan, E.; Gianoutsos, M.; Cox, T. C.; Buckley, M. F.; Roscioli, T.
The current practice of lynch syndrome diagnosis and management in Italy: A qualitative assessment
2020 Tognetto, A.; Pastorino, Roberta; Castorina, S.; Condorelli, D. F.; Decensi, A.; De Vito, C.; Magnano, A.; Scaldaferri, Franco; Villari, P.; Genuardi, Maurizio; Boccia, Stefania
Deep sequencing and pathway-focused analysis revealed multigene oncodriver signatures predicting survival outcomes in advanced colorectal cancer
2018 De Nicola, Francesca; Goeman, Frauke; Pallocca, Matteo; Sperati, Francesca; Pizzuti, Laura; Melucci, Elisa; Casini, Beatrice; Amoreo, Carla Azzurra; Gallo, Enzo; Diodoro, Maria Grazia; Buglioni, Simonetta; Mazzotta, Marco; Vici, Patrizia; Sergi, Domenico; Di Lauro, Luigi; Barba, Maddalena; Pescarmona, Edoardo; Ciliberto, Gennaro; De Maria Marchiano, Ruggero; Fanciulli, Maurizio; Maugeri-Saccà, Marcello
Defining the role of the CGGBP1 protein in FMR1 gene expression
2016 Goracci, Martina; Lanni, Stella; Mancano, Giorgia; Palumbo, Federica; Chiurazzi, Pietro; Neri, Giovanni; Tabolacci, Elisabetta
Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.
2016 Caroppo, P; Camuzat, A; Guillot Noel, L; Thomas Antérion, C; Couratier, P; Wong, Th; Teichmann, M; Golfier, V; Auriacombe, S; Belliard, S; Laurent, B; Lattante, Serena; Millecamps, S; Clot, F; Dubois, B; Van Swieten, Jc; Brice, A; Le Ber, I.
Detection of phylogenetically informative polymorphisms in the entire euchromatic portion of human Y chromosome from a Sardinian sample Evolutionary Biology
2015 Francalacci, Paolo; Sanna, Daria; Useli, Antonella; Berutti, Riccardo; Barbato, Mario; Whalen, Michael B.; Angius, Andrea; Sidore, Carlo; Alonso, Santos; Tofanelli, Sergio; Cucca, Francesco
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement
2019 Zollino, Marcella; Zweier, Christiane; Van Balkom, Ingrid D.; Sweetser, David A.; Alaimo, Joseph; Bijlsma, Emilia K.; Cody, Jannine; Elsea, Sarah H.; Giurgea, Irina; Macchiaiolo, Marina; Smigiel, Robert; Thibert, Ronald L.; Benoist, Ingrid; Clayton-Smith, Jill; De Winter, Channa F.; Deckers, Stijn; Gandhi, Anusha; Huisman, Sylvia; Kempink, Dagmar; Kruisinga, Frea; Lamacchia, Vittoria; Marangi, Giuseppe; Menke, Leonie; Mulder, Paul; Nordgren, Ann; Renieri, Alessandra; Routledge, Sue; Saunders, Carol J.; Stembalska, Agnieszka; Van Balkom, Hans; Whalen, Sandra; Hennekam, Raoul C.
Diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) - Reply
2004 Jass, J. R.; Roncucci, L.; Panz De Leon, M.; Benatti, P.; Borghi, F.; Pedrani, M.; Scarselli, A.; Di Gregorio, Cristina; Losi, L.; Viel, A.; Genuardi, Maurizio; Abbati, G.; Rassi, G.; Menigatti, M.; Panti, G.
Diagnostic and prognostic potential of the proteomic profiling of serum-derived extracellular vesicles in prostate cancer
2021 Signore, M.; Alfonsi, Romina; Federici, G.; Nanni, Simona; Addario, A.; Bertuccini, L.; Aiello, Antimo; Di Pace, A. L.; Sperduti, I.; Muto, G.; Giacobbe, A.; Collura, D.; Brunetto, L.; Simone, G.; Costantini, M.; Crino, L.; Rossi, S.; Tabolacci, C.; Diociaiuti, M.; Merlino, T.; Gallucci, M.; Sentinelli, S.; Papalia, R.; De Maria Marchiano, Ruggero; Bonci, D.
DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL
1995 Genuardi, M; Bardoni, B; Floridia, G; Chiurazzi, P; Scarano, G; Zollino, M; Garcea, N; Martinineri, M; Neri, G
Different molecular mechanisms underlie genomic deletions in the MLH1 gene
2002 Viel, A; Petronzelli, F; Della Puppa, L; Lucci-Cordisco, E; Fornasarig, M; Pucciarelli, S; Rovella, V; Quaia, M; de Leon, M; Boiocchi, M; Genuardi, Maurizio
DNA Methylation in the Diagnosis of Monogenic Diseases.
2020 Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, Fulvia; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, Fiorella; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, Eugenio; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, Elisabetta; Torrente, I; Genuardi, Maurizio; Neri, Giovanni; Riccio, A.
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability
1999 Riccio, A; Aaltonen, L; Godwin, A; Loukola, A; Percesepe, A; Salovaara, R; Masciullo, Valeria; Genuardi, Maurizio; Paravatou-Petsotas, M; Bassi, Daniela; Ruggeri, B; Klein-Szanto, A; Testa, J; Neri, G; Bellacosa, A
DOUBLE AUTOSOMAL/GONOSOMAL MOSAIC ANEUPLOIDY - STUDY OF NONDISJUNCTION IN 2 CASES WITH TRISOMY OF CHROMOSOME-8
1995 Debrasi, D; Genuardi, Maurizio; Dagostino, A; Calvieri, F; Tozzi, Claudio; Varrone, S; Neri, G
Dysbiosis, gut microbiota modulation and intestinal permeability in recurrent cystitis patients and concomitant gastrointestinal pathologies
2019 Graziani, Francesca; Scaldaferri, Franco; Talocco, C; Gervasoni, J; Persichilli, Silvia; Primiano, Aniello; Petito, Valentina; Quagliariello, A; Del Chierico, F; Putignani, L; Lopetuso, Loris Riccardo; Urbani, Andrea; Napoli, M; Gasbarrini, Antonio
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2020 | Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 | Bigoni, S.; Marangi, G.; Frangella, S.; Panfili, A.; Ognibene, D.; Squeo, G. M.; Merla, G.; Zollino, M. | |
| 1-gen-2021 | Cluster analysis in early axial spondyloarthritis predicts poor outcome in the presence of peripheral articular manifestations | Costantino, Félicie; Aegerter, Philippe; Schett, Georg; De Craemer, Ann-Sophie; Molto, Anna; Van den Bosch, Filip; Elewaut, Dirk; Breban, Maxime; D'Agostino, Maria Antonietta | |
| 1-gen-2019 | Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS | Lattante, Serena; Doronzio, Paolo Niccolo'; Marangi, Giuseppe; Conte, Amelia; Bisogni, Giulia; Bernardo, Daniela; Russo, Tommaso; Lamberti, Dante; Patrizi, Sara; Paolo Apollo, Francesco; Lunetta, Christian; Scarlino, Stefania; Pozzi, Laura; Zollino, Marcella; Riva, Nilo; Sabatelli, Mario | |
| 1-gen-2016 | Constitutive expression of pathogenesis-related proteins and antioxydant enzyme activities triggers maize resistance towards Fusarium verticillioides | Maschietto, Valentina; Lanubile, Alessandra; Leonardis, Silvana De; Marocco, Adriano; Paciolla, Costantino | |
| 1-gen-2004 | CORRELATION BETWEEN THYMIDYLATE SYNTHASE (TS) mRNA EXPRESSION AND TS GENE PROMOTER POLYMORPHISMS IN PRIMARY COLORECTAL CANCER PATIENTS | Morganti, Maria; Ciantelli, Monica; Giglioni, Beatrice; Putignano, Anna L.; Nobili, Stefania; Papi, Laura; Landini, Ida; Napoli, Cristina; Valanzano, Rosa; Cianchi, Fabio; Boddi, Vieri; Tonelli, Francesco; Cortesini, Camillo; Mazzei, Teresita; Genuardi, Maurizio; Mini, Enrico | |
| 1-gen-2018 | A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations | Lee, E.; Le, T.; Zhu, Y.; Elakis, G.; Turner, A.; Lo, W.; Venselaar, H.; Verrenkamp, C. -A.; Snow, N.; Mowat, D.; Kirk, E. P.; Sachdev, R.; Smith, J.; Brown, N. J.; Wallis, M.; Barnett, C.; Mckenzie, F.; Freckmann, M. -L.; Collins, F.; Chopra, M.; Gregersen, N.; Hayes, I.; Rajagopalan, S.; Tan, T. Y.; Stark, Z.; Savarirayan, R.; Yeung, A.; Ades, L.; Gattas, M.; Gibson, K.; Gabbett, M.; Amor, D. J.; Lattanzi, Wanda; Boyd, S.; Haan, E.; Gianoutsos, M.; Cox, T. C.; Buckley, M. F.; Roscioli, T. | |
| 1-gen-2020 | The current practice of lynch syndrome diagnosis and management in Italy: A qualitative assessment | Tognetto, A.; Pastorino, Roberta; Castorina, S.; Condorelli, D. F.; Decensi, A.; De Vito, C.; Magnano, A.; Scaldaferri, Franco; Villari, P.; Genuardi, Maurizio; Boccia, Stefania | |
| 1-gen-2018 | Deep sequencing and pathway-focused analysis revealed multigene oncodriver signatures predicting survival outcomes in advanced colorectal cancer | De Nicola, Francesca; Goeman, Frauke; Pallocca, Matteo; Sperati, Francesca; Pizzuti, Laura; Melucci, Elisa; Casini, Beatrice; Amoreo, Carla Azzurra; Gallo, Enzo; Diodoro, Maria Grazia; Buglioni, Simonetta; Mazzotta, Marco; Vici, Patrizia; Sergi, Domenico; Di Lauro, Luigi; Barba, Maddalena; Pescarmona, Edoardo; Ciliberto, Gennaro; De Maria Marchiano, Ruggero; Fanciulli, Maurizio; Maugeri-Saccà, Marcello | |
| 1-gen-2016 | Defining the role of the CGGBP1 protein in FMR1 gene expression | Goracci, Martina; Lanni, Stella; Mancano, Giorgia; Palumbo, Federica; Chiurazzi, Pietro; Neri, Giovanni; Tabolacci, Elisabetta | |
| 1-gen-2016 | Defining the spectrum of frontotemporal dementias associated with TARDBP mutations. | Caroppo, P; Camuzat, A; Guillot Noel, L; Thomas Antérion, C; Couratier, P; Wong, Th; Teichmann, M; Golfier, V; Auriacombe, S; Belliard, S; Laurent, B; Lattante, Serena; Millecamps, S; Clot, F; Dubois, B; Van Swieten, Jc; Brice, A; Le Ber, I. | |
| 1-gen-2015 | Detection of phylogenetically informative polymorphisms in the entire euchromatic portion of human Y chromosome from a Sardinian sample Evolutionary Biology | Francalacci, Paolo; Sanna, Daria; Useli, Antonella; Berutti, Riccardo; Barbato, Mario; Whalen, Michael B.; Angius, Andrea; Sidore, Carlo; Alonso, Santos; Tofanelli, Sergio; Cucca, Francesco | |
| 1-gen-2019 | Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement | Zollino, Marcella; Zweier, Christiane; Van Balkom, Ingrid D.; Sweetser, David A.; Alaimo, Joseph; Bijlsma, Emilia K.; Cody, Jannine; Elsea, Sarah H.; Giurgea, Irina; Macchiaiolo, Marina; Smigiel, Robert; Thibert, Ronald L.; Benoist, Ingrid; Clayton-Smith, Jill; De Winter, Channa F.; Deckers, Stijn; Gandhi, Anusha; Huisman, Sylvia; Kempink, Dagmar; Kruisinga, Frea; Lamacchia, Vittoria; Marangi, Giuseppe; Menke, Leonie; Mulder, Paul; Nordgren, Ann; Renieri, Alessandra; Routledge, Sue; Saunders, Carol J.; Stembalska, Agnieszka; Van Balkom, Hans; Whalen, Sandra; Hennekam, Raoul C. | |
| 1-gen-2004 | Diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) - Reply | Jass, J. R.; Roncucci, L.; Panz De Leon, M.; Benatti, P.; Borghi, F.; Pedrani, M.; Scarselli, A.; Di Gregorio, Cristina; Losi, L.; Viel, A.; Genuardi, Maurizio; Abbati, G.; Rassi, G.; Menigatti, M.; Panti, G. | |
| 1-gen-2021 | Diagnostic and prognostic potential of the proteomic profiling of serum-derived extracellular vesicles in prostate cancer | Signore, M.; Alfonsi, Romina; Federici, G.; Nanni, Simona; Addario, A.; Bertuccini, L.; Aiello, Antimo; Di Pace, A. L.; Sperduti, I.; Muto, G.; Giacobbe, A.; Collura, D.; Brunetto, L.; Simone, G.; Costantini, M.; Crino, L.; Rossi, S.; Tabolacci, C.; Diociaiuti, M.; Merlino, T.; Gallucci, M.; Sentinelli, S.; Papalia, R.; De Maria Marchiano, Ruggero; Bonci, D. | |
| 1-gen-1995 | DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL | Genuardi, M; Bardoni, B; Floridia, G; Chiurazzi, P; Scarano, G; Zollino, M; Garcea, N; Martinineri, M; Neri, G | |
| 1-gen-2002 | Different molecular mechanisms underlie genomic deletions in the MLH1 gene | Viel, A; Petronzelli, F; Della Puppa, L; Lucci-Cordisco, E; Fornasarig, M; Pucciarelli, S; Rovella, V; Quaia, M; de Leon, M; Boiocchi, M; Genuardi, Maurizio | |
| 1-gen-2020 | DNA Methylation in the Diagnosis of Monogenic Diseases. | Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, Fulvia; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, Fiorella; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, Eugenio; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, Elisabetta; Torrente, I; Genuardi, Maurizio; Neri, Giovanni; Riccio, A. | |
| 1-gen-1999 | The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability | Riccio, A; Aaltonen, L; Godwin, A; Loukola, A; Percesepe, A; Salovaara, R; Masciullo, Valeria; Genuardi, Maurizio; Paravatou-Petsotas, M; Bassi, Daniela; Ruggeri, B; Klein-Szanto, A; Testa, J; Neri, G; Bellacosa, A | |
| 1-gen-1995 | DOUBLE AUTOSOMAL/GONOSOMAL MOSAIC ANEUPLOIDY - STUDY OF NONDISJUNCTION IN 2 CASES WITH TRISOMY OF CHROMOSOME-8 | Debrasi, D; Genuardi, Maurizio; Dagostino, A; Calvieri, F; Tozzi, Claudio; Varrone, S; Neri, G | |
| 1-gen-2019 | Dysbiosis, gut microbiota modulation and intestinal permeability in recurrent cystitis patients and concomitant gastrointestinal pathologies | Graziani, Francesca; Scaldaferri, Franco; Talocco, C; Gervasoni, J; Persichilli, Silvia; Primiano, Aniello; Petito, Valentina; Quagliariello, A; Del Chierico, F; Putignani, L; Lopetuso, Loris Riccardo; Urbani, Andrea; Napoli, M; Gasbarrini, Antonio |
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