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Genuardi, Maurizio

Genuardi, Maurizio  

ROMA - Dipartimento di Scienze della vita e sanità pubblica  

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Data di pubblicazione Titolo Autore(i) File
1-gen-2022 Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center Poliani, L; Greco, L; Barile, M; Buono, Ad; Bianchi, P; Basso, G; Giatti, V; Genuardi, Maurizio; Malesci, A; Laghi, L
1-gen-2022 European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer I Vergote, 1; A González-Martín, 2; I Ray-Coquard, 3; P Harter, 4; N Colombo, 5; P Pujol, 6; D Lorusso, 7; M R Mirza, 8; B Brasiuniene, 9; R Madry, 10; J, D Brenton 11; M G E, M Ausems 12; R Büttner, 13; D Lambrechts, 14; Genuardi, M; European experts’ consensus, Group
1-gen-2022 Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis Abiusi, E; Vaisfeld, A; Fiori, S; Novelli, A; Spartano, S; Faggiano, Mv; Giovanniello, T; Angeloni, A; Vento, G; Santoloci, R; Gigli, F; D'Amico, A; Costa, S; Porzi, A; Panella, M; Ticci, C; Daniotti, M; Sacchini, M; Boschi, I; Bertini, E; Lanzone, A; Lamarca, G; Genuardi, M; Pane, M; Donati, Ma; Mercuri, E; Tiziano, Fd
1-gen-2022 Gastrointestinalmanifestarions in PTEN hamartoma tumor syndrome. D'Emo, G.; Genuardi, M.
1-gen-2022 Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort Hendricks, Laj; Hoogerbrugge, N; Venselaar, H; Aretz, S; Spier, I; Legius, E; Brems, H; de Putter, R; Claes, Kbm; Evans, Dg; Woodward, Er; Genuardi, M; Brugnoletti, F; van Ierland, Y; Dijke, K; Tham, E; Tesi, B; Schuurs-Hoeijmakers, Jhm; Branchaud, M; Salvador, H; Jahn, A; Schnaiter, S; Anastasiadou, Vc; Brunet, J; Oliveira, C; Roht, L; Blatnik, A; Irmejs, A; Mensenkamp, Ar; Vos, Jr
1-gen-2022 Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies A Russo, 1; L Incorvaia, 2; E Capoluongo, 3; P Tagliaferri, 4; S Gori, 5; L Cortesi, 6; Genuardi, M.; D Turchetti, 8; U De Giorgi, 9; M Di Maio, 10; M Barberis, 11; M Dessena, 12; M Del Re, 13; A Lapini, 14; C Luchini, 15; B, A Jereczek-Fossa 16; A Sapino, 17; S Cinieri, 18; Italian Scientific, Societies
1-gen-2022 Integrating a Comprehensive Cancer Genome Profiling into Clinical Practice: A Blueprint in an Italian Referral Center Nero, C; Duranti, S; Giacomini, F; Minucci, A; Giacò, L; Piermattei, A; Genuardi, M; Pasciuto, T; Urbani, A; Daniele, G; Lorusso, D; Pignataro, R; Tortora, G; Normanno, N; Scambia, G.
1-gen-2022 Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype Lo Vecchio, F.; Tabolacci, E.; Nobile, V.; Pomponi, M. G.; Pietrobono, R.; Neri, G.; Amenta, S.; Candida, E.; Grippaudo, C.; Lo Cascio, E.; Vita, A.; Tiberio, F.; Arcovito, A.; Lattanzi, W.; Genuardi, M.; Chiurazzi, P.
1-gen-2022 Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series Ronzano, N; Scala, M; Abiusi, E; Contaldo, I; Leoni, C; Vari, Ms; Pisano, T; Battaglia, D; Genuardi, M; Elia, M; Striano, P; Pruna, D.
1-gen-2022 Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup Bruno, W; Dalmasso, B; Barile, M; Andreotti, V; Elefanti, L; Colombino, M; Vanni, I; Allavena, E; Barbero, F; Passoni, E; Merelli, B; Pellegrini, S; Morgese, F; Danesi, R; Calò, V; Bazan, V; D'Elia, Av; Molica, C; Gensini, F; Sala, E; Uliana, V; Soma, Pf; Genuardi, M; Ballestrero, A; Spagnolo, F; Tanda, E; Queirolo, P; Mandalà, M; Stanganelli, I; Palmieri, G; Menin, C
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-2022 The challenge of the Molecular Tumor Board empowerment in clinical oncology practice: A Position Paper on behalf of the AIOM- SIAPEC/IAP-SIBioC-SIC-SIF-SIGU-SIRM Italian Scientific Societies Antonio Russo, 1; Lorena Incorvaia, 2; Ettore Capoluongo, 3; Pierosandro Tagliaferri, 4; Antonio Galvano, 2; Marzia Del Re, 5; Umberto Malapelle, 6; Rita Chiari, 7; Pierfranco Conte, 8; Romano Danesi, 5; Matteo Fassan, 9; Roberto Ferrara, 10; Genuardi, M; Paola Ghiorzo, 12; Stefania Gori, 13; Fiorella Guadagni, 14; Antonio Marchetti, 15; Paolo Marchetti, 16; Massimo Midiri, 17; Nicola Normanno, 18; Francesco Passiglia, 19; Carmine Pinto, 20; Nicola Silvestris, 21; Giovanni Tallini, 22; Simona Vatrano, 23; Bruno Vincenzi, 24; Saverio Cinieri, 25; Giordano Beretta, 26
1-gen-2022 The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice Francesca Forzano, 1; Olga Antonova, 2; Angus Clarke, 3; Guido de Wert, 4; Sabine Hentze, 5; Yalda Jamshidi, 6; Yves Moreau, 7; Markus Perola, 8; Inga Prokopenko, 9 10 11; Andrew Read, 12; Alexandre Reymond, 13; Vigdis Stefansdottir, 14; Carla van El, 15; Genuardi, M.; 16, 17; Executive Committee of the European Society of Human, Genetics; Public and Professional Policy Committee of the European Society of Human, Genetics
1-gen-2022 Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? Lucci-Cordisco, E.; Amenta, S.; Panfili, A.; Del Valle, J.; Capellá, G.; Pineda, M.; Genuardi, 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-2021 Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis Tabolacci, Elisabetta; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, Veronica; Pucci, Cecilia; Musto, Elisa; Pane, Marika; Mercuri, Eugenio Maria; Neri, G.; Genuardi, Maurizio; Chiurazzi, Pietro; Zollino, Marcella
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, Veronica; Pucci, Cecilia; Musto, Elisa; Pane, Marika; Mercuri, Eugenio Maria; Neri, Giovanni; Genuardi, Maurizio; Chiurazzi, Pietro; Zollino, Marcella
1-gen-2021 ESHG warns against misuses of genetic tests and biobanks for discrimination purposes Forzano, F; Genuardi, M; Yves, Moreau
1-gen-2021 Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization Tabolacci, Elisabetta; Molinario, C; Marangi, Giuseppe; Nobile, Veronica; Arena, Vincenzo; Mendes, Mi; Smith, Dec; Salomons, Gs; Tana, Milena; Costa, S; Vento, Giovanni; Genuardi, Maurizio
1-gen-2021 Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe Genuardi, Maurizio; David Humberto Marmolejo, 1; Mark Yu Zheng Wong, 2; Svetlana Bajalica-Lagercrantz, 3; Marc Tischkowitz, 2; Judith Balmaña, 4; extended ERN-GENTURIS Thematic Group, 3