Sfoglia per ???browse.type.metadata.subjectErc2011???
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
Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome
2016 Jiraanont, P.; Hagerman, R. J.; Neri, Giovanni; Zollino, Marcella; Murdolo, Marina; Tassone, Francesco
A girl with a 14.7 Mb 3q26.32-q28 duplication: A new report of 3q duplication syndrome and a literature review
2016 Pavone, Piero; Praticò, Andrea D.; Falsaperla, Raffaele; Ruggieri, Martino; Neri, Giovanni; Pavone, Vito; Zollino, Marcella
Glioblastoma cusa fluid protein profiling: A comparative investigation of the core and peripheral tumor zones
2021 La Rocca, Giuseppe; Simboli, G. A.; Vincenzoni, F.; Rossetti, Diana Valeria; Urbani, Andrea; Ius, T.; Della Pepa, Giuseppe Maria; Olivi, Alessandro; Sabatino, Giovanni; Desiderio, Claudia
Gut microbiota composition and frailty in elderly patients with Chronic Kidney Disease
2020 Margiotta, Elisabetta; Miragoli, Francesco; Callegari, Maria Luisa; Vettoretti, Simone; Caldiroli, Lara; Meneghini, Maria; Zanoni, Francesca; Messa, Piergiorgio
Gut microbiota in monozygotic twins discordant for Parkinson's disease
2022 Bolliri, Carlotta; Fontana, Alessandra; Cereda, Emanuele; Barichella, Michela; Cilia, Roberto; Ferri, Valentina; Caronni, Serena; Calandrella, Daniela; Morelli, Lorenzo; Pezzoli, Gianni
Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis
1999 de Leon, M; Pedroni, M; Benatti, P; Percesepe, A; Di Gregorio, Cristina; Foroni, M; Rossi, G; Genuardi, Maurizio; Neri, G; Leonardi, F; Viel, A; Capozzi, E; Boiocchi, M; Roncucci, L
Hereditary nonpolyposis colorectal cancer: Review of clinical, molecular genetics, and counseling aspects
1996 Bellacosa, A; Genuardi, Maurizio; Anti, M; Viel, A; Deleon, M
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56
2016 Masciullo, Marcella; Tessa, A.; Perazza, S.; Santorelli, F. M.; Perna, Alessia; Silvestri, Gabriella
Heterogeneity matters: Different regions of glioblastoma are characterized by distinctive tumor-supporting pathways
2020 Manini, I.; Caponnetto, F.; Dalla, E.; Ius, T.; Pepa, G. M. D.; Pegolo, E.; Bartolini, A.; Rocca, G. L.; Menna, G.; Di Loreto, C.; Olivi, Alessandro; Skrap, M.; Sabatino, Giovanni; Cesselli, D.
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines
2020 Lattante, Serena; Marangi, Giuseppe; Doronzio, Paolo Niccolo'; Conte, A.; Bisogni, G.; Zollino, Marcella; Sabatelli, Mario
Highly predictive genetic markers distinguish drug-type from fiber-type cannabis sativa L
2019 Cascini, F.; Farcomeni, A.; Migliorini, D.; Baldassarri, L.; Boschi, I.; Martello, S.; Amaducci, S.; Lucini, L.; Bernardi, J.
Historical introgression from wild relatives enhanced climatic adaptation and resistance to pneumonia in sheep
2020 Cao, Yin-Hong; Xu, Song-Song; Shen, Min; Chen, Ze-Hui; Gao, Lei; Lv, Feng-Hua; Xie, Xing-Long; Wang, Xin-Hua; Yang, Hua; Liu, Chang-Bin; Zhou, Ping; Wan, Peng-Cheng; Zhang, Yun-Sheng; Yang, Jing-Quan; Pi, Wen-Hui; EEr, Hehua; Berry, Donagh P; Barbato, Mario; Esmailizadeh, Ali; Nosrati, Maryam; Salehian-Dehkordi, Hosein; Dehghani-Qanatqestani, Mostafa; Dotsev, Arsen V; Deniskova, Tatiana E; Zinovieva, Natalia A; Brem, Gottfried; Štěpánek, Ondřej; Ciani, Elena; Weimann, Christina; Erhardt, Georg; Mwacharo, Joram M; Ahbara, Abulgasim; Han, Jian-Lin; Hanotte, Olivier; Miller, Joshua M; Sim, Zijian; Coltman, David; Kantanen, Juha; Bruford, Michael W; Lenstra, Johannes A; Kijas, James; Li, Meng-Hua
HLA-DRB1 haplotype associates with selection of lipid transfer protein variants as targets of food allergy
2019 Nucera, E; Valentini, M; Mezzacappa, S; Migliara, G; Chini, R; Rizzi, A; Aruanno, A; Ria, F
Identification and classification of hereditary nonpolyposis colorectal cancer (Lynch syndrome): Adapting old concepts to recent advancements. Report from the Italian association for the study of hereditary colorectal tumors consensus group
2007 de Leon, M; Bertario, L; Genuardi, M; Lanza, G; Oliani, C; Ranzani, G; Rossi, G; Varesco, L; Venesio, T; Viel, A
Identification of a novel gene signature predicting response to first-line chemotherapy in BRCA wild-type high-grade serous ovarian cancer patients
2022 Buttarelli, M.; Ciucci, A.; Palluzzi, F.; Raspaglio, G.; Marchetti, C.; Perrone, E.; Minucci, A.; Giaco, L.; Fagotti, A.; Scambia, G.; Gallo, D.
Identification of ancestry informative marker (AIM) panels to assess hybridisation between feral and domestic sheep
2020 Somenzi, Elisa; Ajmone Marsan, Paolo; Barbato, Mario
Identification of new candidate genes for spina bifida through exome sequencing
2021 Azzara, A.; Rendeli, Claudia; Crivello, Anna Maria; Brugnoletti, F.; Rumore, Roberto; Ausili, E.; Sangiorgi, Eugenio; Gurrieri, Fiorella
Improved binding of SARS-CoV-2 Envelope protein to tight junction-associated PALS1 could play a key role in COVID-19 pathogenesis
2020 De Maio, F.; Lo Cascio, E.; Babini, G.; Sali, M.; Della Longa, S.; Tilocca, B.; Roncada, P.; Arcovito, A.; Sanguinetti, M.; Scambia, G.; Urbani, A.
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database
2017 Møller, P; Seppälä, I; Bernstein, I; Holinski Feder, E; Sala, P; Evans, Dg; Lindblom, A; Macrae, F; Blanco, I; Sijmons, R; Jeffries, J; Vasen, H; Burn, J; Nakken, S; Hovig, E; Rødland, Ea; Tharmaratnam, K; de Vos Tot Nederveen Cappel, Wh; Hill, J; Wijnen, J; Jenkins, M; Green, K; Lalloo, F; Sunde, L; Mints, M; Bertario, L; Pineda, M; Navarro, M; Morak, M; Renkonen Sinisalo, L; Frayling, Im; Plazzer, Jp; Pylvanainen, K; Genuardi, Maurizio; Mecklin, Jp; Möslein, G; Sampson, Jr; Capella, G; Mallorca, Group
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 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-2016 | Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome | Jiraanont, P.; Hagerman, R. J.; Neri, Giovanni; Zollino, Marcella; Murdolo, Marina; Tassone, Francesco | |
| 1-gen-2016 | A girl with a 14.7 Mb 3q26.32-q28 duplication: A new report of 3q duplication syndrome and a literature review | Pavone, Piero; Praticò, Andrea D.; Falsaperla, Raffaele; Ruggieri, Martino; Neri, Giovanni; Pavone, Vito; Zollino, Marcella | |
| 1-gen-2021 | Glioblastoma cusa fluid protein profiling: A comparative investigation of the core and peripheral tumor zones | La Rocca, Giuseppe; Simboli, G. A.; Vincenzoni, F.; Rossetti, Diana Valeria; Urbani, Andrea; Ius, T.; Della Pepa, Giuseppe Maria; Olivi, Alessandro; Sabatino, Giovanni; Desiderio, Claudia | |
| 1-gen-2020 | Gut microbiota composition and frailty in elderly patients with Chronic Kidney Disease | Margiotta, Elisabetta; Miragoli, Francesco; Callegari, Maria Luisa; Vettoretti, Simone; Caldiroli, Lara; Meneghini, Maria; Zanoni, Francesca; Messa, Piergiorgio | |
| 1-gen-2022 | Gut microbiota in monozygotic twins discordant for Parkinson's disease | Bolliri, Carlotta; Fontana, Alessandra; Cereda, Emanuele; Barichella, Michela; Cilia, Roberto; Ferri, Valentina; Caronni, Serena; Calandrella, Daniela; Morelli, Lorenzo; Pezzoli, Gianni | |
| 1-gen-1999 | Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis | de Leon, M; Pedroni, M; Benatti, P; Percesepe, A; Di Gregorio, Cristina; Foroni, M; Rossi, G; Genuardi, Maurizio; Neri, G; Leonardi, F; Viel, A; Capozzi, E; Boiocchi, M; Roncucci, L | |
| 1-gen-1996 | Hereditary nonpolyposis colorectal cancer: Review of clinical, molecular genetics, and counseling aspects | Bellacosa, A; Genuardi, Maurizio; Anti, M; Viel, A; Deleon, M | |
| 1-gen-2016 | Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56 | Masciullo, Marcella; Tessa, A.; Perazza, S.; Santorelli, F. M.; Perna, Alessia; Silvestri, Gabriella | |
| 1-gen-2020 | Heterogeneity matters: Different regions of glioblastoma are characterized by distinctive tumor-supporting pathways | Manini, I.; Caponnetto, F.; Dalla, E.; Ius, T.; Pepa, G. M. D.; Pegolo, E.; Bartolini, A.; Rocca, G. L.; Menna, G.; Di Loreto, C.; Olivi, Alessandro; Skrap, M.; Sabatino, Giovanni; Cesselli, D. | |
| 1-gen-2020 | High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines | Lattante, Serena; Marangi, Giuseppe; Doronzio, Paolo Niccolo'; Conte, A.; Bisogni, G.; Zollino, Marcella; Sabatelli, Mario | |
| 1-gen-2019 | Highly predictive genetic markers distinguish drug-type from fiber-type cannabis sativa L | Cascini, F.; Farcomeni, A.; Migliorini, D.; Baldassarri, L.; Boschi, I.; Martello, S.; Amaducci, S.; Lucini, L.; Bernardi, J. | |
| 1-gen-2020 | Historical introgression from wild relatives enhanced climatic adaptation and resistance to pneumonia in sheep | Cao, Yin-Hong; Xu, Song-Song; Shen, Min; Chen, Ze-Hui; Gao, Lei; Lv, Feng-Hua; Xie, Xing-Long; Wang, Xin-Hua; Yang, Hua; Liu, Chang-Bin; Zhou, Ping; Wan, Peng-Cheng; Zhang, Yun-Sheng; Yang, Jing-Quan; Pi, Wen-Hui; EEr, Hehua; Berry, Donagh P; Barbato, Mario; Esmailizadeh, Ali; Nosrati, Maryam; Salehian-Dehkordi, Hosein; Dehghani-Qanatqestani, Mostafa; Dotsev, Arsen V; Deniskova, Tatiana E; Zinovieva, Natalia A; Brem, Gottfried; Štěpánek, Ondřej; Ciani, Elena; Weimann, Christina; Erhardt, Georg; Mwacharo, Joram M; Ahbara, Abulgasim; Han, Jian-Lin; Hanotte, Olivier; Miller, Joshua M; Sim, Zijian; Coltman, David; Kantanen, Juha; Bruford, Michael W; Lenstra, Johannes A; Kijas, James; Li, Meng-Hua | |
| 1-gen-2019 | HLA-DRB1 haplotype associates with selection of lipid transfer protein variants as targets of food allergy | Nucera, E; Valentini, M; Mezzacappa, S; Migliara, G; Chini, R; Rizzi, A; Aruanno, A; Ria, F | |
| 1-gen-2007 | Identification and classification of hereditary nonpolyposis colorectal cancer (Lynch syndrome): Adapting old concepts to recent advancements. Report from the Italian association for the study of hereditary colorectal tumors consensus group | de Leon, M; Bertario, L; Genuardi, M; Lanza, G; Oliani, C; Ranzani, G; Rossi, G; Varesco, L; Venesio, T; Viel, A | |
| 1-gen-2022 | Identification of a novel gene signature predicting response to first-line chemotherapy in BRCA wild-type high-grade serous ovarian cancer patients | Buttarelli, M.; Ciucci, A.; Palluzzi, F.; Raspaglio, G.; Marchetti, C.; Perrone, E.; Minucci, A.; Giaco, L.; Fagotti, A.; Scambia, G.; Gallo, D. | |
| 1-gen-2020 | Identification of ancestry informative marker (AIM) panels to assess hybridisation between feral and domestic sheep | Somenzi, Elisa; Ajmone Marsan, Paolo; Barbato, Mario | |
| 1-gen-2021 | Identification of new candidate genes for spina bifida through exome sequencing | Azzara, A.; Rendeli, Claudia; Crivello, Anna Maria; Brugnoletti, F.; Rumore, Roberto; Ausili, E.; Sangiorgi, Eugenio; Gurrieri, Fiorella | |
| 1-gen-2020 | Improved binding of SARS-CoV-2 Envelope protein to tight junction-associated PALS1 could play a key role in COVID-19 pathogenesis | De Maio, F.; Lo Cascio, E.; Babini, G.; Sali, M.; Della Longa, S.; Tilocca, B.; Roncada, P.; Arcovito, A.; Sanguinetti, M.; Scambia, G.; Urbani, A. | |
| 1-gen-2017 | Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database | Møller, P; Seppälä, I; Bernstein, I; Holinski Feder, E; Sala, P; Evans, Dg; Lindblom, A; Macrae, F; Blanco, I; Sijmons, R; Jeffries, J; Vasen, H; Burn, J; Nakken, S; Hovig, E; Rødland, Ea; Tharmaratnam, K; de Vos Tot Nederveen Cappel, Wh; Hill, J; Wijnen, J; Jenkins, M; Green, K; Lalloo, F; Sunde, L; Mints, M; Bertario, L; Pineda, M; Navarro, M; Morak, M; Renkonen Sinisalo, L; Frayling, Im; Plazzer, Jp; Pylvanainen, K; Genuardi, Maurizio; Mecklin, Jp; Möslein, G; Sampson, Jr; Capella, G; Mallorca, Group |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile