Genuardi, Maurizio
Genuardi, Maurizio
ROMA - Dipartimento di Scienze della vita e sanità pubblica
45,X/47,XX,+18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines
1999 Genuardi, M; Pomponi, M; Torrisi, L; Neri, G; Stagni, M; Tozzi, C
A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability
2004 Caluseriu, O; Di Gregorio, C; Lucci-Cordisco, E; Santarosa, M; Trojan, J; Brieger, A; Benatti, P; Pedroni, M; Colibazzi, T; Bellacosa, A; Neri, G; de Leon, M; Viel, A; Genuardi, M
A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability
2006 Marroni, F; Pastrello, C; Benatti, P; Torrini, M; Barana, D; Cordisco, E; Viel, A; Mareni, C; Oliani, C; Genuardi, M; Bailey-Wilson, J; de Leon, M; Presciuttini, S
A GIRL WITH G-SYNDROME AND AGENESIS OF THE CORPUS-CALLOSUM
1987 Neri, G; Genuardi, M; Natoli, G; Costa, P; Maggioni, G
A kindred with MYH-associated polyposis and pilomatricomas
2005 Baglioni, S; Melean, G; Gensini, F; Santucci, M; Scatizzi, M; Papi, L; Genuardi, M
A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations
2007 Pedroni, M; Roncari, B; Maffei, S; Losi, L; Scarselli, A; Di Gregorio, C; Marino, M; Roncucci, L; Benatti, P; Ponti, G; Rossi, G; Menigatti, M; Viel, A; Genuardi, M; de Leon, M
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families
2021 Capoluongo, E; De Matteis, E; Cucinotto, I; Ronzino, G; Santonocito, C; Tornesello, A; De Giorgio, Mr; Lucci Cordisco, E; Minucci, A; 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 Capoluongo, E.; De Matteis, E.; Cucinotto, I.; Ronzino, G.; Santonocito, C.; Tornesello, A.; De Giorgio, M. R.; Lucci Cordisco, E.; Minucci, A.; Genuardi, M.
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer
2005 Lucci-Cordisco, E; Zollino, M; Baglioni, S; Mancuso, I; Lecce, R; Gurrieri, F; Crucitti, A; Papi, L; Neri, G; Genuardi, M
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report
2019 Grippaudo, Cristina; Cafiero, Concetta; D'Apolito, Isabella; Re, Agnese; Genuardi, Maurizio; Chiurazzi, Pietro; Frazier-Bowers, Sylvia A.
A PALB2 germline mutation associated with hereditary breast cancer in Italy
2010 Papi, L; Putignano, A; Congregati, C; Piaceri, I; Zanna, I; Sera, F; Morrone, D; Genuardi, Maurizio; Palli, D.
A proteomics approach to identify changes in protein profiles in serum of Familial Adenomatous Polyposis patients
2008 Quaresima, B; Crugliano, T; Gaspari, M; Faniello, M; Cosimo, P; Valanzano, R; Genuardi, M; Cannataro, M; Veltri, P; Baudi, F; Doldo, P; Cuda, G; Venuta, S; Costanzo, F
A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case
2007 Ricci, U; Melean, G; Robino, C; Genuardi, M
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
2020 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.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
2019 Suerink, M; Rodríguez-Girondo, M; van der Klift, Hm; Colas, C; Brugieres, L; Lavoine, N; Jongmans, M; Munar, Gc; Evans, Dg; Farrell, Mp; Genuardi, M; Goldberg, Y; Gomez-Garcia, E; Heinimann, K; Hoell, Ji; Aretz, S; Jasperson, Kw; Kedar, I; Modi, Mb; Nikolaev, S; van Os, Tam; Ripperger, T; Rueda, D; Senter, L; Sjursen, W; Sunde, L; Therkildsen, C; Tibiletti, Mg; Trainer, Ah; Vos, Yj; Wagner, A; Winship, I; Wimmer, K; Zimmermann, Sy; Vasen, Hf; van Asperen, Cj; Houwing-Duistermaat, Jj; Ten Broeke, Sw; Nielsen, M
Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation
2006 Fatini, C; Sticchi, E; Genuardi, M; Sofi, F; Gensini, F; Gori, A; Lenti, M; Michelucci, A; Abbate, R; Gensini, G
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis
2014 Genuardi, Maurizio; Laura, Giunti; Martina Da, Ros; Serena, Vinci; Stefania, Gelmini; Anna Lisa, Iorio; Anna Maria, Buccoliero; Stefania, Cardellicchio; Francesca, Castiglione; Lorenzo, Genitori; Maurizio De, Martino; Sabrina, Giglio; Iacopo, Sardi
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis.
2015 Giunti, L; Da Ros, M; Vinci, S; Gelmini, S; Iorio, Al; Buccoliero, Am; Cardellicchio, S; Castiglione, F; Genitori, L; De Martino, M; Giglio, S; Genuardi, Maurizio; Sardi, I.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
2014 Genuardi, Maurizio; Spurdle, Ab; Plazzer, Jp; Greenblatt, Ms; Akagi, K; Al Mulla, F; Bapat, B; Bernstein, I; Capellá, G; Den Dunnen, Jt; Du Sart, D; Fabre, A; Farrell, Mp; Farrington, Sm; Frayling, Im; Frebourg, T; Goldgar, De; Heinen, Cd; Holinski Feder, E; Kohonen Corish, M; Robinson, Kl; Leung, Sy; Martins, A; Moller, P; Morak, M; Nystrom, M; Peltomaki, P; Pineda, M; Qi, M; Ramesar, R; Rasmussen, Lj; Royer Pokora, B; Scott, Rj; Sijmons, R; Tavtigian, Sv; Tops, Cm; Weber, T; Wijnen, J; Woods, Mo; Macrae, F; Thompson, Ba
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2
1999 Genuardi, M; Carrara, S; Anti, M; de Leon, M; Viel, A
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-1999 | 45,X/47,XX,+18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines | Genuardi, M; Pomponi, M; Torrisi, L; Neri, G; Stagni, M; Tozzi, C | |
| 1-gen-2004 | A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability | Caluseriu, O; Di Gregorio, C; Lucci-Cordisco, E; Santarosa, M; Trojan, J; Brieger, A; Benatti, P; Pedroni, M; Colibazzi, T; Bellacosa, A; Neri, G; de Leon, M; Viel, A; Genuardi, M | |
| 1-gen-2006 | A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability | Marroni, F; Pastrello, C; Benatti, P; Torrini, M; Barana, D; Cordisco, E; Viel, A; Mareni, C; Oliani, C; Genuardi, M; Bailey-Wilson, J; de Leon, M; Presciuttini, S | |
| 1-gen-1987 | A GIRL WITH G-SYNDROME AND AGENESIS OF THE CORPUS-CALLOSUM | Neri, G; Genuardi, M; Natoli, G; Costa, P; Maggioni, G | |
| 1-gen-2005 | A kindred with MYH-associated polyposis and pilomatricomas | Baglioni, S; Melean, G; Gensini, F; Santucci, M; Scatizzi, M; Papi, L; Genuardi, M | |
| 1-gen-2007 | A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations | Pedroni, M; Roncari, B; Maffei, S; Losi, L; Scarselli, A; Di Gregorio, C; Marino, M; Roncucci, L; Benatti, P; Ponti, G; Rossi, G; Menigatti, M; Viel, A; Genuardi, M; de Leon, M | |
| 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-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-2005 | A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer | Lucci-Cordisco, E; Zollino, M; Baglioni, S; Mancuso, I; Lecce, R; Gurrieri, F; Crucitti, A; Papi, L; Neri, G; Genuardi, M | |
| 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. | |
| 1-gen-2010 | A PALB2 germline mutation associated with hereditary breast cancer in Italy | Papi, L; Putignano, A; Congregati, C; Piaceri, I; Zanna, I; Sera, F; Morrone, D; Genuardi, Maurizio; Palli, D. | |
| 1-gen-2008 | A proteomics approach to identify changes in protein profiles in serum of Familial Adenomatous Polyposis patients | Quaresima, B; Crugliano, T; Gaspari, M; Faniello, M; Cosimo, P; Valanzano, R; Genuardi, M; Cannataro, M; Veltri, P; Baudi, F; Doldo, P; Cuda, G; Venuta, S; Costanzo, F | |
| 1-gen-2007 | A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case | Ricci, U; Melean, G; Robino, C; 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-2019 | An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome. | Suerink, M; Rodríguez-Girondo, M; van der Klift, Hm; Colas, C; Brugieres, L; Lavoine, N; Jongmans, M; Munar, Gc; Evans, Dg; Farrell, Mp; Genuardi, M; Goldberg, Y; Gomez-Garcia, E; Heinimann, K; Hoell, Ji; Aretz, S; Jasperson, Kw; Kedar, I; Modi, Mb; Nikolaev, S; van Os, Tam; Ripperger, T; Rueda, D; Senter, L; Sjursen, W; Sunde, L; Therkildsen, C; Tibiletti, Mg; Trainer, Ah; Vos, Yj; Wagner, A; Winship, I; Wimmer, K; Zimmermann, Sy; Vasen, Hf; van Asperen, Cj; Houwing-Duistermaat, Jj; Ten Broeke, Sw; Nielsen, M | |
| 1-gen-2006 | Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation | Fatini, C; Sticchi, E; Genuardi, M; Sofi, F; Gensini, F; Gori, A; Lenti, M; Michelucci, A; Abbate, R; Gensini, G | |
| 1-gen-2014 | Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis | Genuardi, Maurizio; Laura, Giunti; Martina Da, Ros; Serena, Vinci; Stefania, Gelmini; Anna Lisa, Iorio; Anna Maria, Buccoliero; Stefania, Cardellicchio; Francesca, Castiglione; Lorenzo, Genitori; Maurizio De, Martino; Sabrina, Giglio; Iacopo, Sardi | |
| 1-gen-2015 | Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. | Giunti, L; Da Ros, M; Vinci, S; Gelmini, S; Iorio, Al; Buccoliero, Am; Cardellicchio, S; Castiglione, F; Genitori, L; De Martino, M; Giglio, S; Genuardi, Maurizio; Sardi, I. | |
| 1-gen-2014 | Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. | Genuardi, Maurizio; Spurdle, Ab; Plazzer, Jp; Greenblatt, Ms; Akagi, K; Al Mulla, F; Bapat, B; Bernstein, I; Capellá, G; Den Dunnen, Jt; Du Sart, D; Fabre, A; Farrell, Mp; Farrington, Sm; Frayling, Im; Frebourg, T; Goldgar, De; Heinen, Cd; Holinski Feder, E; Kohonen Corish, M; Robinson, Kl; Leung, Sy; Martins, A; Moller, P; Morak, M; Nystrom, M; Peltomaki, P; Pineda, M; Qi, M; Ramesar, R; Rasmussen, Lj; Royer Pokora, B; Scott, Rj; Sijmons, R; Tavtigian, Sv; Tops, Cm; Weber, T; Wijnen, J; Woods, Mo; Macrae, F; Thompson, Ba | |
| 1-gen-1999 | Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2 | Genuardi, M; Carrara, S; Anti, M; de Leon, M; Viel, A |