Genuardi, Maurizio
Dettaglio
Genuardi, Maurizio
ROMA - Dipartimento di Scienze della vita e sanità pubblica
Pubblicazioni
Risultati 1 - 20 di 89 (tempo di esecuzione: 0.001 secondi).
Data di pubblicazione | Titolo | Autore(i) | File | |
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1 | 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. | - |
2 | 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 | - |
3 | 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 | - |
4 | 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. | - |
5 | 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 | - |
6 | 2015 | Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. | Rebbeck Tr, Mitra N; Cimba, Consortium; Wan, F; Genuardi, Maurizio; Healey, S; Mcguffog, L; Mazoyer, S; Chenevix Trench, G; Laitman, Y; Easton, Df; Antoniou, Ac; Nathanson, Kl | - |
7 | 2010 | Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) | Stagi, S; Lapi, E; Gambineri, E; Manoni, C; Genuardi, Maurizio; Colarusso, G; Conti, C; Chiarelli, F; De Martino, M; Azzari, C. | - |
8 | 2013 | Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study | Resta, N; Pierannunzio, D; Lenato, Gm; Stella, A; Capocaccia, R; Bagnulo, R; Lastella, P; Susca, Fc; Bozzao, C; Loconte, Dc; Sabbà, C; Urso, E; Sala, P; Fornasarig, M; Grammatico, P; Piepoli, A; Host, C; Turchetti, D; Viel, A; Memo, L; Giunti, L; Stigliano, V; Varesco, L; Bertario, L; Genuardi, Maurizio; Lucci Cordisco, Emanuela; Tibiletti, Mg; Di Gregorio, C; Andriulli, A; Ponz De Leon, M. | - |
9 | 2014 | Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. | Forte, Giovanna; Grossi, Valentina; Celestini, Valentina; Lucisano, Giuseppe; Scardapane, Marco; Varvara, Dora; Patruno, Margherita; Bagnulo, Rosanna; Loconte, Daria; Giunti, Laura; Petracca, Antonio; Giglio, Sabrina; Genuardi, Maurizio; Pellegrini, Fabio; Resta, Nicoletta; Simone, Cristiano | - |
10 | 2017 | The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use | D'Ippolito, Silvia; Di Simone, Nicoletta; Orteschi, Daniela; Grazia Pomponi, Maria; Genuardi, Maurizio; Grazia Sisti, Leuconoe; Castellani, Roberta; Diana Rossi, Esther; Scambia, Giovanni; Zollino, Marcella | Open Access |
11 | 2013 | Clinical and Genetic Study of a Family With a Paternally Inherited 15q11-q13 Duplication | Marini, C; Cecconi, A; Contini, E; Pantaleo, M; Metitieri, T; Guarducci, S; Giglio, S; Guerrini, R; Genuardi, Maurizio | - |
12 | 2013 | Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication. | Genuardi, Maurizio; Marini, C; Cecconi, A; Contini, E; Pantaleo, M; Metitieri, T; Guarducci, S; Giglio, S; Guerrini, R. | - |
13 | 2013 | Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012 | Aretz, S; Genuardi, Maurizio; Hes, F. | - |
14 | 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. | - |
15 | 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. | - |
16 | 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. | - |
17 | 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. | - |
18 | 2011 | Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dube syndrome ascertained for non-cutaneous manifestations | Maffe, A; Toschi, B; Circo, G; Giachino, D; Giglio, S; Rizzo, A; Carloni, A; Poletti, V; Tomassetti, S; Ginardi, C; Ungari, S; Genuardi, Maurizio | - |
19 | 1995 | Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature | Zollino, Marcella; Genuardi, Maurizio; Bajer, Jolanta Alina; Tornesello, Assunta; Mastrangelo, Stefano; Zampino, Giuseppe; Mastrangelo, R; Neri, Giovanni | - |
20 | 2015 | Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. | Aceto, Gitana Maria; Fantini, Fabiana; De Iure, Sabrina; Di Nicola, Marta; Palka, Giandomenico; Valenzano, Rosa; Di Gregorio, Patrizia; Stigliano, Vincenza; Genuardi, Maurizio; Battista, Pasquale; Cama, Alessandro; Curia, Maria Cristina | - |