Sfoglia per Autore
Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma
2024 Trevisan, Valentina; Viscogliosi, Germana; Savino, Gustavo; Salerni, Annabella; Perri, L; Russo, Rosellina; Benenati, M; Calandrelli, Rosalinda; Onesimo, Roberta; Giorgio, Valentina; Rigante, Donato; Genuardi, Maurizio; Zampino, Giuseppe; Leoni, Chiara
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis
2023 Abiusi, Emanuela; Vaisfeld, Alessandro; Fiori, Simona; Novelli, A.; Spartano, Serena; Faggiano, M. V.; Giovanniello, T.; Angeloni, A.; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, A.; Costa, S.; Porzi, A.; Panella, M.; Ticci, C.; Daniotti, M.; Sacchini, M.; Boschi, I.; Dani, C.; Agostiniani, R.; Bertini, Enrico Silvio; Lanzone, Antonio; Lamarca, G.; Genuardi, Maurizio; Pane, Marika; Donati, M. A.; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo
Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid
2023 Sangiorgi, Eugenio; Giannuzzi, Federico; Molinario, Clelia; Rapari, Giulia; Riccio, Melania; Cuffaro, Giovanni; Castri, Federica; Benvenuto, Roberta; Genuardi, Maurizio; Massi, Daniela; Savino, Gustavo
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?
2022 Lucci-Cordisco, E.; Amenta, S.; Panfili, A.; Del Valle, J.; Capellá, G.; Pineda, M.; Genuardi, M.
Integrating a Comprehensive Cancer Genome Profiling into Clinical Practice: A Blueprint in an Italian Referral Center
2022 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.
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies
2022 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
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
2022 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
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
2022 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
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series
2022 Ronzano, N; Scala, M; Abiusi, Emanuela; Contaldo, Ilaria; Leoni, Chiara; Vari, Ms; Pisano, T; Battaglia, Domenica Immacolata; Genuardi, Maurizio; Elia, M; Striano, P; Pruna, D.
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup
2022 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
Gastrointestinalmanifestarions in PTEN hamartoma tumor syndrome.
2022 D'Emo, G.; Genuardi, Maurizio
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making
2022 Leoni, Chiara; Paradiso, Filomena Valentina; Foschi, Nazario; Tedesco, Marta; Pierconti, Francesco; Silvaroli, S.; Diego, M. D.; Birritella, Lisa; Pantaleoni, F.; Rendeli, Claudia; Onesimo, Roberta; Viscogliosi, Germana; Bassi, Pierfrancesco; Nanni, Lorenzo; Genuardi, Maurizio; Tartaglia, M.; Zampino, Giuseppe
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype
2022 Lo Vecchio, Filomena; Tabolacci, Elisabetta; Nobile, Veronica; Pomponi, M. G.; Pietrobono, R.; Neri, Giovanni; Amenta, Simona; Candida, E.; Grippaudo, Cristina; Lo Cascio, Ettore; Vita, Alessia; Tiberio, Federica; Arcovito, Alessandro; Lattanzi, Wanda; Genuardi, Maurizio; Chiurazzi, Pietro
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
2022 Hendricks, Laj; Hoogerbrugge, N; Venselaar, H; Aretz, S; Spier, I; Legius, E; Brems, H; de Putter, R; Claes, Kbm; Evans, Dg; Woodward, Er; Genuardi, Maurizio; 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
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center
2022 Poliani, L; Greco, L; Barile, M; Buono, Ad; Bianchi, P; Basso, G; Giatti, V; Genuardi, Maurizio; Malesci, A; Laghi, L
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
2022 Abiusi, Emanuela; Vaisfeld, Alessandro; Fiori, Simona; Novelli, A; Spartano, Serena; Faggiano, Maria Vittoria; Giovanniello, T; Angeloni, A; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, A; Costa, S; Porzi, A; Panella, M; Ticci, C; Daniotti, M; Sacchini, M; Boschi, I; Bertini, Enrico Silvio; Lanzone, Antonio; Lamarca, G; Genuardi, Maurizio; Pane, Marika; Donati, Ma; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo
European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer
2022 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, Maurizio; European experts’ consensus, Group
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
2021 Genuardi, Maurizio; International Mismatch Repair, Consortium
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe
2021 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
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, Ettore Domenico; De Matteis, Elisabetta; Cucinotto, I; Ronzino, G; Santonocito, Concetta; Tornesello, Assunta; De Giorgio, Mr; Lucci Cordisco, Emanuela; Minucci, Angelo; Genuardi, Maurizio
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2024 | Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma | Trevisan, Valentina; Viscogliosi, Germana; Savino, Gustavo; Salerni, Annabella; Perri, L; Russo, Rosellina; Benenati, M; Calandrelli, Rosalinda; Onesimo, Roberta; Giorgio, Valentina; Rigante, Donato; Genuardi, Maurizio; Zampino, Giuseppe; Leoni, Chiara | |
| 1-gen-2023 | 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, Emanuela; Vaisfeld, Alessandro; Fiori, Simona; Novelli, A.; Spartano, Serena; Faggiano, M. V.; Giovanniello, T.; Angeloni, A.; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, A.; Costa, S.; Porzi, A.; Panella, M.; Ticci, C.; Daniotti, M.; Sacchini, M.; Boschi, I.; Dani, C.; Agostiniani, R.; Bertini, Enrico Silvio; Lanzone, Antonio; Lamarca, G.; Genuardi, Maurizio; Pane, Marika; Donati, M. A.; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo | |
| 1-gen-2023 | Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid | Sangiorgi, Eugenio; Giannuzzi, Federico; Molinario, Clelia; Rapari, Giulia; Riccio, Melania; Cuffaro, Giovanni; Castri, Federica; Benvenuto, Roberta; Genuardi, Maurizio; Massi, Daniela; Savino, Gustavo | |
| 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-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 | 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 | 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 | Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series | Ronzano, N; Scala, M; Abiusi, Emanuela; Contaldo, Ilaria; Leoni, Chiara; Vari, Ms; Pisano, T; Battaglia, Domenica Immacolata; Genuardi, Maurizio; 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 | Gastrointestinalmanifestarions in PTEN hamartoma tumor syndrome. | D'Emo, G.; Genuardi, Maurizio | |
| 1-gen-2022 | Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making | Leoni, Chiara; Paradiso, Filomena Valentina; Foschi, Nazario; Tedesco, Marta; Pierconti, Francesco; Silvaroli, S.; Diego, M. D.; Birritella, Lisa; Pantaleoni, F.; Rendeli, Claudia; Onesimo, Roberta; Viscogliosi, Germana; Bassi, Pierfrancesco; Nanni, Lorenzo; Genuardi, Maurizio; Tartaglia, M.; Zampino, Giuseppe | |
| 1-gen-2022 | Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype | Lo Vecchio, Filomena; Tabolacci, Elisabetta; Nobile, Veronica; Pomponi, M. G.; Pietrobono, R.; Neri, Giovanni; Amenta, Simona; Candida, E.; Grippaudo, Cristina; Lo Cascio, Ettore; Vita, Alessia; Tiberio, Federica; Arcovito, Alessandro; Lattanzi, Wanda; Genuardi, Maurizio; Chiurazzi, Pietro | |
| 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, Maurizio; 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 | 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 | 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, Emanuela; Vaisfeld, Alessandro; Fiori, Simona; Novelli, A; Spartano, Serena; Faggiano, Maria Vittoria; Giovanniello, T; Angeloni, A; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, A; Costa, S; Porzi, A; Panella, M; Ticci, C; Daniotti, M; Sacchini, M; Boschi, I; Bertini, Enrico Silvio; Lanzone, Antonio; Lamarca, G; Genuardi, Maurizio; Pane, Marika; Donati, Ma; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo | |
| 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, Maurizio; European experts’ consensus, Group | |
| 1-gen-2021 | Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study | Genuardi, Maurizio; International Mismatch Repair, Consortium | |
| 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 | |
| 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, Ettore Domenico; De Matteis, Elisabetta; Cucinotto, I; Ronzino, G; Santonocito, Concetta; Tornesello, Assunta; De Giorgio, Mr; Lucci Cordisco, Emanuela; Minucci, Angelo; Genuardi, Maurizio |
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