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Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement
2021 Vaisfeld, A.; Bruno, G.; Petracca, M.; Bentivoglio, A. R.; Servidei, S.; Vita, M. G.; Bove, F.; Straccia, G.; Dato, C.; Di Iorio, G.; Sampaolo, S.; Peluso, S.; De Rosa, A.; De Michele, G.; Barghigiani, M.; Galatolo, D.; Tessa, A.; Santorelli, F.; Chiurazzi, P.; Melone, M. A. B.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients
2016 Garavelli, Livia; Ivanovski, Ivan; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P; Baldo, Chiara; Bayat, Allan; Belligni, Elga; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; Devriendt, Koenraad; Dinulos, Mary Beth; Djuric, Olivera; Epifanio, Roberta; Faravelli, Francesca; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Lacombe, Didier; Maggi, Massimo; Malbora, Baris; Mammi, Isabella; Moutton, Sebastien; Møller, Rikke; Muschke, Petra; Napoli, Manuela; Pantaleoni, Chiara; Pascarella, Rosario; Pellicciari, Alessandro; Poch Olive, Maria Luisa; Raviglione, Federico; Rivieri, Francesca; Russo, Carmela; Savasta, Salvatore; Scarano, Gioacchino; Selicorni, Angelo; Silengo, Margherita; Sorge, Giovanni; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zollino, Marcella; Dobyns, William B; Paciorkowski, Alex R.
Neurotensin up-regulation is associated with advanced fibrosis and hepatocellular carcinoma in patients with MAFLD
2020 Dongiovanni, P.; Meroni, M.; Petta, S.; Longo, M.; Alisi, A.; Soardo, G.; Valenti, L.; Miele, Luca; Grimaudo, S.; Pennisi, G.; Antonio, G.; Consonni, D.; Fargion, S.; Fracanzani, A. L.
New medical approaches in advanced ovarian cancer
2019 Corrado, Giacomo; Palluzzi, Eleonora; Bottoni, Carolina; Pietragalla, Antonella; Salutari, Vanda; Ghizzoni, Viola; Distefano, Mariagrazia; Scambia, Giovanni; Ferrandina, Maria Gabriella
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis
2008 Sestini, R; Provenzano, A; Bacci, C; Orlando, C; Genuardi, M; Papi, L
NLRP12 gene mutations and auto-inflammatory diseases: Ever-changing evidence
2020 Porto, F. D.; Cifani, N.; Proietta, M.; Verrecchia, E.; Rosa, R. D.; Manna, R.; Chiurazzi, P.
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey
2004 Sensi, A; Cavani, S; Villa, N; Pomponi, Massimiliano; Fogli, A; Gualandi, F; Grasso, M; Sala, E; Pietrobono, R; Baldinotti, F; Savin, E; Ferlini, A; Cecconi, Maurizio; Rossi, S; Gallone, S; Bellini, C; Neri, G; Martinoli, E; Simi, P; Dalpra, L; Genuardi, Maurizio; Dagna-Bricarelli, F; Calzolari, E
A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass
2018 Ferraro, Pietro Manuel; Minucci, Angelo; Primiano, Aniello; De Paolis, Elisa; Gervasoni, Jacopo; Persichilli, Silvia; Naticchia, Alessandro; Capoluongo, Ettore Domenico; Gambaro, Giovanni
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
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer
2005 Lucci-Cordisco, E; Zollino, Marcella; Baglioni, S; Mancuso, I; Lecce, R; Gurrieri, Fiorella; Crucitti, Antonio; Papi, L; Neri, G; Genuardi, Maurizio
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings
2019 Eskiocak, Ah; Missaglia, Sara; Moro, L; Durdu, M; Tavian, Daniela
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis
2021 Lattante, Serena; Doronzio, Paolo Niccolo'; Conte, Amelia; Marangi, Giuseppe; Martello, Francesco; Bisogni, Giulia; Meleo, Emiliana; Colavito, Davide; Del Giudice, Elda; Patanella, Agata Katia; Bernardo, Daniela; Romano, Angela; Zollino, Marcella; Sabatelli, Mario
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data
2019 Pane, Marika; Coratti, Giorgia; Sansone, Valeria A; Messina, Sonia; Bruno, Claudio; Catteruccia, Michela; Sframeli, Maria; Albamonte, Emilio; Pedemonte, Marina; D'Amico, Adele; Bravetti, Chiara; Berti, Beatrice; Brigati, Giorgia; Tacchetti, Paola; Salmin, Francesca; de Sanctis, Roberto; Lucibello, Simona; Piastra, Marco; Genovese, Orazio; Bertini, Enrico; Vita, Giuseppe; Tiziano, Francesco Danilo; Mercuri, Eugenio
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.
2019 Leoni, C; Onesimo, R; Resta, N; Patti, Maria Letizia; De Santis, Rita; Bagnulo, R; Russo, Luca; Manfredi, R; Genuardi, M; Zampino, G.
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation
2018 Gatto, Antonio; Ferrara, Pietro; Leoni, Chiara; Onesimo, Roberta; Zollino, Marcella; Emma, Francesco; Zampino, Giuseppe
ORAL-FACIAL-SKELETAL SYNDROMES
1995 Neri, G; Gurrieri, Fiorella; Genuardi, Maurizio
The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy
2007 Gensini, F; Sestini, R; Piazzini, M; Vignoli, M; Chiarugi, A; Brandani, P; Ghiorzo, P; Salvini, C; Borgognoni, L; Palli, D; Bianchi-Scarra, G; Carli, P; Genuardi, M
Pathogenesis Of Portal Vein Thrombosis In Liver Cirrhosis: The Role of the ADAMTS13/VWF Unbalance
2018 Monica Sacco, Stefano lancellotti; Basso, Maria; De Cristofaro, Raimondo
Patterns of Y-STR variation in Italy
2012 Brisighelli, Francesca; Blanco Verea, A; Boschi, I; Garagnani, P; Pascali, Vincenzo Lorenzo; Carracedo, A; Capelli, Cristian; Salas, A.
A phase III study comparing secondary long-term prophylaxis versus on-demand treatment with vWF/FVIII concentrates in severe inherited von Willebrand disease
2019 Peyvandi, Flora; Castaman, Giancarlo; Gresele, Paolo; De Cristofaro, Raimondo; Schinco, Piercarla; Bertomoro, Antonella; Morfini, Massino; Gamba, Gabriella; Barillari, Giovanni; Jiménez-Yuste, Víctor; Königs, Cristoph; Iorio, Alfonso; Federici, Augusto B
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2021 | Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement | Vaisfeld, A.; Bruno, G.; Petracca, M.; Bentivoglio, A. R.; Servidei, S.; Vita, M. G.; Bove, F.; Straccia, G.; Dato, C.; Di Iorio, G.; Sampaolo, S.; Peluso, S.; De Rosa, A.; De Michele, G.; Barghigiani, M.; Galatolo, D.; Tessa, A.; Santorelli, F.; Chiurazzi, P.; Melone, M. A. B. | |
| 1-gen-2016 | Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients | Garavelli, Livia; Ivanovski, Ivan; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P; Baldo, Chiara; Bayat, Allan; Belligni, Elga; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; Devriendt, Koenraad; Dinulos, Mary Beth; Djuric, Olivera; Epifanio, Roberta; Faravelli, Francesca; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Lacombe, Didier; Maggi, Massimo; Malbora, Baris; Mammi, Isabella; Moutton, Sebastien; Møller, Rikke; Muschke, Petra; Napoli, Manuela; Pantaleoni, Chiara; Pascarella, Rosario; Pellicciari, Alessandro; Poch Olive, Maria Luisa; Raviglione, Federico; Rivieri, Francesca; Russo, Carmela; Savasta, Salvatore; Scarano, Gioacchino; Selicorni, Angelo; Silengo, Margherita; Sorge, Giovanni; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zollino, Marcella; Dobyns, William B; Paciorkowski, Alex R. | |
| 1-gen-2020 | Neurotensin up-regulation is associated with advanced fibrosis and hepatocellular carcinoma in patients with MAFLD | Dongiovanni, P.; Meroni, M.; Petta, S.; Longo, M.; Alisi, A.; Soardo, G.; Valenti, L.; Miele, Luca; Grimaudo, S.; Pennisi, G.; Antonio, G.; Consonni, D.; Fargion, S.; Fracanzani, A. L. | |
| 1-gen-2019 | New medical approaches in advanced ovarian cancer | Corrado, Giacomo; Palluzzi, Eleonora; Bottoni, Carolina; Pietragalla, Antonella; Salutari, Vanda; Ghizzoni, Viola; Distefano, Mariagrazia; Scambia, Giovanni; Ferrandina, Maria Gabriella | |
| 1-gen-2008 | NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis | Sestini, R; Provenzano, A; Bacci, C; Orlando, C; Genuardi, M; Papi, L | |
| 1-gen-2020 | NLRP12 gene mutations and auto-inflammatory diseases: Ever-changing evidence | Porto, F. D.; Cifani, N.; Proietta, M.; Verrecchia, E.; Rosa, R. D.; Manna, R.; Chiurazzi, P. | |
| 1-gen-2004 | Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey | Sensi, A; Cavani, S; Villa, N; Pomponi, Massimiliano; Fogli, A; Gualandi, F; Grasso, M; Sala, E; Pietrobono, R; Baldinotti, F; Savin, E; Ferlini, A; Cecconi, Maurizio; Rossi, S; Gallone, S; Bellini, C; Neri, G; Martinoli, E; Simi, P; Dalpra, L; Genuardi, Maurizio; Dagna-Bricarelli, F; Calzolari, E | |
| 1-gen-2018 | A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass | Ferraro, Pietro Manuel; Minucci, Angelo; Primiano, Aniello; De Paolis, Elisa; Gervasoni, Jacopo; Persichilli, Silvia; Naticchia, Alessandro; Capoluongo, Ettore Domenico; Gambaro, Giovanni | |
| 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-2005 | A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer | Lucci-Cordisco, E; Zollino, Marcella; Baglioni, S; Mancuso, I; Lecce, R; Gurrieri, Fiorella; Crucitti, Antonio; Papi, L; Neri, G; Genuardi, Maurizio | |
| 1-gen-2019 | A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings | Eskiocak, Ah; Missaglia, Sara; Moro, L; Durdu, M; Tavian, Daniela | |
| 1-gen-2021 | Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis | Lattante, Serena; Doronzio, Paolo Niccolo'; Conte, Amelia; Marangi, Giuseppe; Martello, Francesco; Bisogni, Giulia; Meleo, Emiliana; Colavito, Davide; Del Giudice, Elda; Patanella, Agata Katia; Bernardo, Daniela; Romano, Angela; Zollino, Marcella; Sabatelli, Mario | |
| 1-gen-2019 | Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data | Pane, Marika; Coratti, Giorgia; Sansone, Valeria A; Messina, Sonia; Bruno, Claudio; Catteruccia, Michela; Sframeli, Maria; Albamonte, Emilio; Pedemonte, Marina; D'Amico, Adele; Bravetti, Chiara; Berti, Beatrice; Brigati, Giorgia; Tacchetti, Paola; Salmin, Francesca; de Sanctis, Roberto; Lucibello, Simona; Piastra, Marco; Genovese, Orazio; Bertini, Enrico; Vita, Giuseppe; Tiziano, Francesco Danilo; Mercuri, Eugenio | |
| 1-gen-2019 | Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. | Leoni, C; Onesimo, R; Resta, N; Patti, Maria Letizia; De Santis, Rita; Bagnulo, R; Russo, Luca; Manfredi, R; Genuardi, M; Zampino, G. | |
| 1-gen-2018 | Oligonephronia and Wolf-Hirschhorn syndrome: A further observation | Gatto, Antonio; Ferrara, Pietro; Leoni, Chiara; Onesimo, Roberta; Zollino, Marcella; Emma, Francesco; Zampino, Giuseppe | |
| 1-gen-1995 | ORAL-FACIAL-SKELETAL SYNDROMES | Neri, G; Gurrieri, Fiorella; Genuardi, Maurizio | |
| 1-gen-2007 | The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy | Gensini, F; Sestini, R; Piazzini, M; Vignoli, M; Chiarugi, A; Brandani, P; Ghiorzo, P; Salvini, C; Borgognoni, L; Palli, D; Bianchi-Scarra, G; Carli, P; Genuardi, M | |
| 1-gen-2018 | Pathogenesis Of Portal Vein Thrombosis In Liver Cirrhosis: The Role of the ADAMTS13/VWF Unbalance | Monica Sacco, Stefano lancellotti; Basso, Maria; De Cristofaro, Raimondo | |
| 1-gen-2012 | Patterns of Y-STR variation in Italy | Brisighelli, Francesca; Blanco Verea, A; Boschi, I; Garagnani, P; Pascali, Vincenzo Lorenzo; Carracedo, A; Capelli, Cristian; Salas, A. | |
| 1-gen-2019 | A phase III study comparing secondary long-term prophylaxis versus on-demand treatment with vWF/FVIII concentrates in severe inherited von Willebrand disease | Peyvandi, Flora; Castaman, Giancarlo; Gresele, Paolo; De Cristofaro, Raimondo; Schinco, Piercarla; Bertomoro, Antonella; Morfini, Massino; Gamba, Gabriella; Barillari, Giovanni; Jiménez-Yuste, Víctor; Königs, Cristoph; Iorio, Alfonso; Federici, Augusto B |
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