Sfoglia per ???browse.type.metadata.typeResearch??? AREA06 - SCIENZE MEDICHE
A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing
2022 Concolino, Paola; Tartaglione, Linda; De Paolis, Elisa; Carrozza, Cinzia; Urbani, Andrea; Minucci, Angelo; Pitocco, Dario; Santonocito, Concetta
A novel germline mutation at exon 10 of MEN1 gene: a clinical survey and positive genotype-phenotype analysis of a MEN1 Italian family, including monozygotic twins
2018 Palermo, Andrea; Capoluongo, Ettore Domenico; Del Toro, Rossella; Manfrini, Silvia; Pozzilli, Paolo; Maggi, Daria; Defeudis, Giuseppe; Pantano, Francesco; Coppola, Roberto; Di Matteo, Francesco Maria; Raffaelli, Marco; Concolino, Paola; Falchetti, Alberto
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy
2004 Broccolini, Aldobrando; Ricci, Enzo; Cassandrini, D.; Gliubizzi, Carla; Bruno, Carmelina; Tonoli, Erika; Silvestri, Gabriella; Pescatori, M.; Rodolico, C.; Sinicropi, S.; Servidei, Serenella; Zara, F.; Minetti, C.; Tonali, P. A.; Mirabella, Massimiliano
Novel Health Economic Evaluation of a Vaccination Strategy to Prevent HPV-related Diseases The BEST Study
2012 Favato, G; Baio, G; Capone, A; Marcellusi, A; Costa, Simonetta; Garganese, Giorgia; Picardo, M; Drummond, M; Jonsson, B; Scambia, Giovanni; Zweifel, P; Mennini, Fs
A Novel Hemodynamic Index Characterizing Mitral Regurgitation Undergoing Transcatheter Edge-to-Edge Repair: The MPF
2024 Leone, Antonio Maria; Di Giusto, Federico; Lucarelli, Katya; Vicerè, Andrea; Anastasia, Gianluca; Galante, Domenico; Petrolati, Edoardo; Bianchini, Francesco; Burzotta, Francesco; Aurigemma, Cristina; Lombardo, Antonella; Locorotondo, Gabriella; Graziani, Francesca; Casamassima, Vito; Grimaldi, Massimo; Trani, Carlo
A novel HIPEC technique using hybrid CO2 recirculation system: intra-abdominal diffusion test in a porcine model
2018 Cianci, Stefano; Vizzielli, Giuseppe; Fagotti, Anna; Pacelli, Fabio; Di Giorgio, Andrea; Tropea, Alessandro; Biondi, Antonio; Scambia, Giovanni
The novel HLA-DRB3*02:02:11 allele identified in an Italian individual
2018 Battarra, M.; Locatelli, Franco; Galluccio, T.; Guagnano, A.; Andreani, M.
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'
2013 Luigetti, Marco; Bolino, Alessandra; Scarlino, Stefania; Sabatelli, Mario
A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset
2021 De Rose, D. U.; Gallini, Francesca; Battaglia, Domenica Immacolata; Tiberi, Eloisa; Gaudino, Simona; Contaldo, Ilaria; Veredice, Chiara; Romeo, Domenico Marco; Massimi, Luca; Asaro, A.; Cereda, C.; Vento, Giovanni; Mercuri, Eugenio Maria
Novel immunolocalization of alpha-synuclein in human muscle of inclusion-body myositis, regenerating and necrotic muscle fibers, and at neuromuscular junctions
2000 Askanas, Valerie; Engel, W. King; Alvarez, Renate; Mcferrin, Janis; Broccolini, Aldobrando
Novel Indices of Coronary Physiology Do We Need Alternatives to Fractional Flow Reserve?
2020 De Maria, Giovanni Luigi; Garcia-Garcia, Hm; Scarsini, R; Hideo-Kajita, A; López, Ng; Leone, Antonio Maria; Sarno, G; Daemen, J; Shlofmitz, E; Jeremias, A; Tebaldi, M; Bezerra, Hg; Tu, Sx; Lemos, Pa; Ozaki, Y; Dan, Kz; Collet, C; Banning, Ap; Barbato, E; Johnson, Np; Waksman, R
Novel insights in fibrotic pulmonary sarcoidosis
2022 Comes, Alessia; Sofia, Carmelo; Richeldi, Luca
Novel Insights Into the Interactions Between the Gut Microbiome, Inflammasomes, and Gasdermins During Colorectal Cancer
2022 Privitera, Giuseppe; Rana, N.; Scaldaferri, Franco; Armuzzi, Alessandro; Pizarro, T. T.
Novel Insights into the Pathogenesis of Inflammatory Bowel Diseases
2025 Calvez, Valentin; Puca, Pierluigi; Di Vincenzo, Federica; Del Gaudio, Angelo; Bartocci, Bianca; Murgiano, Marco; Iaccarino, Jacopo; Parand, Erfan; Napolitano, Daniele; Pugliese, Daniela; Gasbarrini, Antonio; Scaldaferri, Franco
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease
2014 Ciotti, Paolo; Luigetti, Marco; Geroldi, A; Capponi, S; Pezzini, I; Gulli, R; Pazzaglia, Costanza; Padua, Luca; Massa, R; Mandich, P; Bellone, E.
A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia
2021 Moffa, Simona; Onori, Maria Elisabetta; De Paolis, Elisa; Ricciardi Tenore, Claudio; Perrucci, Alessia; Pontecorvi, Alfredo; Giaccari, Andrea; Urbani, Andrea; Minucci, Angelo
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
2020 Sims, Matthew C; Mayer, Louisa; Collins, Janine; Bariana, Tadbir; Megy, Karyn; Lavenu-Bombled, Cecile; Seyres, Denis; Kollipara, Laxmikanth; Burden, Frances; Greene, Daniel; Lee, Dave; Rodriguez-Romera, Antonio; Alessi, Marie-Christine; Astle, William John; Bahou, Wadie; Bury, Loredana; Chalmers, Elizabeth; Da Silva, Rachael; De Candia, Erica; Deevi, Sri V V; Farrow, Samantha; Gomez, Keith; Grassi, Luigi; Greinacher, Andreas; Gresele, Paolo; Hart, Daniel Patrick; Hurtaud, Marie-Françoise; Kelly, Anne; Kerr, Ron; Le Quellec, Sandra; Leblanc, Thierry M; Leinøe, Eva B; Mapeta, Rutendo P; Mckinney, Harriet; Michelson, Alan D; Morais, Sara; Nugent, Diane J; Papadia, Sofia; Park, Soo J; Pasi, John; Podda, Gian Marco; Poon, Man-Chiu; Reed, Rachel; Sekhar, Mallika; Shalev, Hanna; Sivapalaratnam, Suthesh; Steinberg-Shemer, Orna; Stephens, Jonathan C; Tait, Robert C; Turro, Ernest; Wu, John K; Zieger, Barbara Maria Hildegard; Bioresource, Nihr; Kuijpers, Taco W; Whetton, Anthony D; Sickmann, Albert; Freson, Kathleen; Downes, Kate; Erber, Wendy; Frontini, Mattia; Nurden, Paquita; Ouwehand, Willem Hendrik; Favier, Remi; Guerrero, Jose A
Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family
2021 Brown, K. M.; Xu, M.; Sargen, M.; Jang, H.; Zhang, M.; Zhang, T.; Zhu, B.; Jones, K.; Kim, J.; Mendoza, L.; Hayward, N. K.; Tucker, M. A.; Goldstein, A. M.; Yang, X. R.; Stewart, D. R.; Hicks, B.; Consonni, D.; Pesatori, A. C.; Fargnoli, Maria Concetta; Peris, Ketty; Stratigos, A.; Menin, C.; Ghiorzo, P.; Puig, S.; Nagore, E.; Andresson, T.; Nussinov, R.; Calista, D.; Landi, M. T.
A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1
2020 Corsello, Andrea; Bruno, Carmine; Rizza, Roberta; Concolino, Paola; Papi, Giampaolo; Pontecorvi, Alfredo; Rindi, Guido; Paragliola, Rosa Maria
A novel method for post-mortem interval estimation based on tissue nano-mechanics
2019 De Giorgio, Fabio; Nardini, Matteo; Foti, Federica; Minelli, Eleonora; Papi, Massimiliano; D'Aloja, Ernesto; Pascali, Vincenzo Lorenzo; De Spirito, Marco; Ciasca, Gabriele
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2022 | A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing | Concolino, Paola; Tartaglione, Linda; De Paolis, Elisa; Carrozza, Cinzia; Urbani, Andrea; Minucci, Angelo; Pitocco, Dario; Santonocito, Concetta | |
| 1-gen-2018 | A novel germline mutation at exon 10 of MEN1 gene: a clinical survey and positive genotype-phenotype analysis of a MEN1 Italian family, including monozygotic twins | Palermo, Andrea; Capoluongo, Ettore Domenico; Del Toro, Rossella; Manfrini, Silvia; Pozzilli, Paolo; Maggi, Daria; Defeudis, Giuseppe; Pantano, Francesco; Coppola, Roberto; Di Matteo, Francesco Maria; Raffaelli, Marco; Concolino, Paola; Falchetti, Alberto | |
| 1-gen-2004 | Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy | Broccolini, Aldobrando; Ricci, Enzo; Cassandrini, D.; Gliubizzi, Carla; Bruno, Carmelina; Tonoli, Erika; Silvestri, Gabriella; Pescatori, M.; Rodolico, C.; Sinicropi, S.; Servidei, Serenella; Zara, F.; Minetti, C.; Tonali, P. A.; Mirabella, Massimiliano | |
| 1-gen-2012 | Novel Health Economic Evaluation of a Vaccination Strategy to Prevent HPV-related Diseases The BEST Study | Favato, G; Baio, G; Capone, A; Marcellusi, A; Costa, Simonetta; Garganese, Giorgia; Picardo, M; Drummond, M; Jonsson, B; Scambia, Giovanni; Zweifel, P; Mennini, Fs | |
| 1-gen-2024 | A Novel Hemodynamic Index Characterizing Mitral Regurgitation Undergoing Transcatheter Edge-to-Edge Repair: The MPF | Leone, Antonio Maria; Di Giusto, Federico; Lucarelli, Katya; Vicerè, Andrea; Anastasia, Gianluca; Galante, Domenico; Petrolati, Edoardo; Bianchini, Francesco; Burzotta, Francesco; Aurigemma, Cristina; Lombardo, Antonella; Locorotondo, Gabriella; Graziani, Francesca; Casamassima, Vito; Grimaldi, Massimo; Trani, Carlo | |
| 1-gen-2018 | A novel HIPEC technique using hybrid CO2 recirculation system: intra-abdominal diffusion test in a porcine model | Cianci, Stefano; Vizzielli, Giuseppe; Fagotti, Anna; Pacelli, Fabio; Di Giorgio, Andrea; Tropea, Alessandro; Biondi, Antonio; Scambia, Giovanni | |
| 1-gen-2018 | The novel HLA-DRB3*02:02:11 allele identified in an Italian individual | Battarra, M.; Locatelli, Franco; Galluccio, T.; Guagnano, A.; Andreani, M. | |
| 1-gen-2013 | A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy' | Luigetti, Marco; Bolino, Alessandra; Scarlino, Stefania; Sabatelli, Mario | |
| 1-gen-2021 | A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset | De Rose, D. U.; Gallini, Francesca; Battaglia, Domenica Immacolata; Tiberi, Eloisa; Gaudino, Simona; Contaldo, Ilaria; Veredice, Chiara; Romeo, Domenico Marco; Massimi, Luca; Asaro, A.; Cereda, C.; Vento, Giovanni; Mercuri, Eugenio Maria | |
| 1-gen-2000 | Novel immunolocalization of alpha-synuclein in human muscle of inclusion-body myositis, regenerating and necrotic muscle fibers, and at neuromuscular junctions | Askanas, Valerie; Engel, W. King; Alvarez, Renate; Mcferrin, Janis; Broccolini, Aldobrando | |
| 1-gen-2020 | Novel Indices of Coronary Physiology Do We Need Alternatives to Fractional Flow Reserve? | De Maria, Giovanni Luigi; Garcia-Garcia, Hm; Scarsini, R; Hideo-Kajita, A; López, Ng; Leone, Antonio Maria; Sarno, G; Daemen, J; Shlofmitz, E; Jeremias, A; Tebaldi, M; Bezerra, Hg; Tu, Sx; Lemos, Pa; Ozaki, Y; Dan, Kz; Collet, C; Banning, Ap; Barbato, E; Johnson, Np; Waksman, R | |
| 1-gen-2022 | Novel insights in fibrotic pulmonary sarcoidosis | Comes, Alessia; Sofia, Carmelo; Richeldi, Luca | |
| 1-gen-2022 | Novel Insights Into the Interactions Between the Gut Microbiome, Inflammasomes, and Gasdermins During Colorectal Cancer | Privitera, Giuseppe; Rana, N.; Scaldaferri, Franco; Armuzzi, Alessandro; Pizarro, T. T. | |
| 1-gen-2025 | Novel Insights into the Pathogenesis of Inflammatory Bowel Diseases | Calvez, Valentin; Puca, Pierluigi; Di Vincenzo, Federica; Del Gaudio, Angelo; Bartocci, Bianca; Murgiano, Marco; Iaccarino, Jacopo; Parand, Erfan; Napolitano, Daniele; Pugliese, Daniela; Gasbarrini, Antonio; Scaldaferri, Franco | |
| 1-gen-2014 | A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease | Ciotti, Paolo; Luigetti, Marco; Geroldi, A; Capponi, S; Pezzini, I; Gulli, R; Pazzaglia, Costanza; Padua, Luca; Massa, R; Mandich, P; Bellone, E. | |
| 1-gen-2021 | A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia | Moffa, Simona; Onori, Maria Elisabetta; De Paolis, Elisa; Ricciardi Tenore, Claudio; Perrucci, Alessia; Pontecorvi, Alfredo; Giaccari, Andrea; Urbani, Andrea; Minucci, Angelo | |
| 1-gen-2020 | Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome | Sims, Matthew C; Mayer, Louisa; Collins, Janine; Bariana, Tadbir; Megy, Karyn; Lavenu-Bombled, Cecile; Seyres, Denis; Kollipara, Laxmikanth; Burden, Frances; Greene, Daniel; Lee, Dave; Rodriguez-Romera, Antonio; Alessi, Marie-Christine; Astle, William John; Bahou, Wadie; Bury, Loredana; Chalmers, Elizabeth; Da Silva, Rachael; De Candia, Erica; Deevi, Sri V V; Farrow, Samantha; Gomez, Keith; Grassi, Luigi; Greinacher, Andreas; Gresele, Paolo; Hart, Daniel Patrick; Hurtaud, Marie-Françoise; Kelly, Anne; Kerr, Ron; Le Quellec, Sandra; Leblanc, Thierry M; Leinøe, Eva B; Mapeta, Rutendo P; Mckinney, Harriet; Michelson, Alan D; Morais, Sara; Nugent, Diane J; Papadia, Sofia; Park, Soo J; Pasi, John; Podda, Gian Marco; Poon, Man-Chiu; Reed, Rachel; Sekhar, Mallika; Shalev, Hanna; Sivapalaratnam, Suthesh; Steinberg-Shemer, Orna; Stephens, Jonathan C; Tait, Robert C; Turro, Ernest; Wu, John K; Zieger, Barbara Maria Hildegard; Bioresource, Nihr; Kuijpers, Taco W; Whetton, Anthony D; Sickmann, Albert; Freson, Kathleen; Downes, Kate; Erber, Wendy; Frontini, Mattia; Nurden, Paquita; Ouwehand, Willem Hendrik; Favier, Remi; Guerrero, Jose A | |
| 1-gen-2021 | Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family | Brown, K. M.; Xu, M.; Sargen, M.; Jang, H.; Zhang, M.; Zhang, T.; Zhu, B.; Jones, K.; Kim, J.; Mendoza, L.; Hayward, N. K.; Tucker, M. A.; Goldstein, A. M.; Yang, X. R.; Stewart, D. R.; Hicks, B.; Consonni, D.; Pesatori, A. C.; Fargnoli, Maria Concetta; Peris, Ketty; Stratigos, A.; Menin, C.; Ghiorzo, P.; Puig, S.; Nagore, E.; Andresson, T.; Nussinov, R.; Calista, D.; Landi, M. T. | |
| 1-gen-2020 | A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1 | Corsello, Andrea; Bruno, Carmine; Rizza, Roberta; Concolino, Paola; Papi, Giampaolo; Pontecorvi, Alfredo; Rindi, Guido; Paragliola, Rosa Maria | |
| 1-gen-2019 | A novel method for post-mortem interval estimation based on tissue nano-mechanics | De Giorgio, Fabio; Nardini, Matteo; Foti, Federica; Minelli, Eleonora; Papi, Massimiliano; D'Aloja, Ernesto; Pascali, Vincenzo Lorenzo; De Spirito, Marco; Ciasca, Gabriele |
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