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Morbo di Hodgkin familiare: considerazioni su due famiglie in cui la malattia ha interessato padre e figlio
1983 Marietti, Giovanni; Riccardi, Riccardo; Reali, Laura; De Carolis, Maria Pia; Corbo, Serena; Rumi, Carlo; Ginfelice, M.
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
2009 Neri, Giovanni
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
2009 Neri, Giovanni; Neuman, T. E; Allanson, Judith; Kavamura, Ines; Kerr, B; Noonan, J; Cordeddu, V; Gibson, K.; Tzschach, A.; Kruger, G.; Goecke, T. O.; Kehl, H. G.; Albrecht, B.; Luczak, K.; Musiante, L.; Laurie, R.; Peters, H.; Tarataglia, M.; Zenker, M.
MUTATION OF SHOC2 PROMOTES ABERRANT PROTEIN N-MYRISTOYLATION AND CAUSES NOONAN-LIKE SUNDROME WITH LOOSE ANAGEN HAIR.
2009 Cordeddu, V; Di Schiavi, E; Zampino, Giuseppe; Dallapiccola, Bruno; Gelb, Bd; Tartaglia, Marco
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
2014 Johnson, Jo; Pioro, Ep; Boehringer, A; Chia, R; Feit, H; Renton, Ae; Pliner, Ha; Abramzon, Y; Marangi, Giuseppe; Winborn, Bj; Gibbs, Jr; Nalls, Ma; Morgan, S; Shoai, M; Hardy, J; Pittman, A; Orrell, Rw; Malaspina, A; Sidle, Kc; Fratta, P; Harms, Mb; Baloh, Rh; Pestronk, A; Weihl, Cc; Rogaeva, E; Zinman, L; Drory, Ve; Borghero, G; Mora, G; Calvo, A; Rothstein, Jd; Drepper, C; Sendtner, M; Singleton, Ab; Taylor, Jp; Cookson, Mr; Restagno, G; Sabatelli, Mario; Bowser, R; Chiò, A; Traynor, Bj; Conte, Amelia; Luigetti, Marco; Zollino, Marcella; Lattante, Serena
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events
2013 Aretz, S; Tricarico, R; Papi, L; Spier, I; Pin, E; Horpaopan, S; Lucci Cordisco, Emanuela; Pedroni, M; Stienen, D; Gentile, A; Panza, A; Piepoli, A; De Leon, Mp; Friedl, W; Viel, A; Genuardi, Maurizio
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
2015 Cafiero, C; Marangi, Giuseppe; Orteschi, Daniela; Ali, M; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, V; Battaglia, Domenica Immacolata; Mercuri, Eugenio Maria; Slavotinek, Am; Zollino, Marcella
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
2020 Cappuccio, G.; Sayou, C.; Tanno, P. L.; Tisserant, E.; Bruel, A. -L.; Kennani, S. E.; Sa, J.; Low, K. J.; Dias, C.; Havlovicova, M.; Hancarova, M.; Eichler, E. E.; Devillard, F.; Moutton, S.; Van-Gils, J.; Dubourg, C.; Odent, S.; Gerard, B.; Piton, A.; Yamamoto, T.; Okamoto, N.; Firth, H.; Metcalfe, K.; Moh, A.; Chapman, K. A.; Aref-Eshghi, E.; Kerkhof, J.; Torella, A.; Nigro, V.; Perrin, L.; Piard, J.; Le Guyader, G.; Jouan, T.; Thauvin-Robinet, C.; Duffourd, Y.; George-Abraham, J. K.; Buchanan, C. A.; Williams, D.; Kini, U.; Wilson, K.; Nigro, V.; Brunetti-Pierri, N.; Casari, G.; Cappuccio, G.; Torella, A.; Pinelli, M.; Musacchia, F.; Mutarelli, M.; Carrella, D.; Vitiello, G.; Capra, V.; Parenti, G.; Leuzzi, V.; Selicorni, A.; Maitz, S.; Banfi, S.; Zollino, Marcella; Montomoli, M.; Milani, D.; Romano, C.; Tummolo, A.; De Brasi, D.; Coppola, A.; Santoro, C.; Peron, A.; Pantaleoni, C.; Castello, R.; D'Arrigo, S.; Sousa, S. B.; Hennekam, R. C. M.; Sadikovic, B.; Thevenon, J.; Govin, J.; Vitobello, A.; Brunetti-Pierri, N.
Overgrowth syndromes: A classification.
2009 Neri, Giovanni; Moscarda, Marco
Overgrowth syndromes: A classification. In Endocrine Involvement in Developmental Syndromes
2009 Neri, Giovanni; Moscarda, M.
p73 G4C14-to-A4T14 gene polymorphism and interaction with p53 exon 4 Arg72Pro on cancer susceptibility: a meta-analysis of the literature
2012 De Feo, Emma; Simone, Benedetto; Kamgaing, Rachel Simo; Gallì, Paola; Hamajima, Nobuyuki; Hu, Zhibin; Li, Guojun; Li, Yuan; Matsuo, Keitaro; Park, Jae Yong; Roychoudhury, Susanta; Spitz, Margaret R; Wei, Qingyi; Zhang, Jian Hui; Ricciardi, Gualtiero; Boccia, Stefania
Patterns of Y-STR variation in Italy.
2012 Brisighelli, Francesca; Blanco Verea, A; Boschi, Ilaria; Garagnani, P; Pascali, Vincenzo Lorenzo; Carracedo, A; Capelli, Cristian; Salas, A.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
2018 Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P; Ajmone, Paola Francesca; Badura-Stronka, Magdalena; Baldo, Chiara; Baldi, Maddalena; Bayat, Allan; Bigoni, Stefania; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; De Brasi, Daniele; Devriendt, Koenraad; Dinulos, Mary Beth; Hjortshøj, Tina Duelund; Epifanio, Roberta; Faravelli, Francesca; Fiumara, Agata; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Kuburovic, Vladimir; Kutkowska-Kazmierczak, Anna; Lacombe, Didier; Lo Rizzo, Caterina; Luchetti, Anna; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Montorsi, Giulia; Moutton, Sebastien; Møller, Rikke S; Muschke, Petra; Nielsen, Jens Erik Klint; Obersztyn, Ewa; Pantaleoni, Chiara; Pellicciari, Alessandro; Pisanti, Maria Antonietta; Prpic, Igor; Poch-Olive, Maria Luisa; Raviglione, Federico; Renieri, Alessandra; Ricci, Emilia; Rivieri, Francesca; Santen, Gijs W; Savasta, Salvatore; Scarano, Gioacchino; Schanze, Ina; Selicorni, Angelo; Silengo, Margherita; Smigiel, Robert; Spaccini, Luigina; Sorge, Giovanni; Szczaluba, Krzysztof; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zenker, Martin; Conidi, Andrea; Zollino, Marcella; Rauch, Anita; Zweier, Christiane; Garavelli, Livia
Polymorphism of Beta2-Adrenoceptor and Regular Use of Formoterol in Asthma: Preliminary Results
2013 Fuso, Leonello; Di Perna, Alessandra; Longobardi, Anna; Trove', Andrea; Bisceglia, Michela; Bibi, Benedetta; Angelozzi, Carla; Tiziano, Francesco Danilo; Antonelli Incalzi, Raffaele
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.
2013 Boccuto, Luigi; Lauri, Maria; Sarasua, Sm; Skinner, Cd; Buccella, D; Dwivedi, A; Zollino, Marcella; Orteschi, Daniela; Visconti, P; Dupont, B; Tiziano, Francesco Danilo; Schroer, Rj; Neri, Giovanni; Stevenson, Re; Gurrieri, Fiorella; Schwartz, Ce; Collins, Js
Pro-Inflammatory Genetic Profiles in Subjects with Peripheral Arterial Occlusive Disease and Critical Limb Ischemia
2007 Flex, Andrea; Gaetani, Eleonora; Angelini, Flavia; Sabusco, Alexandra; Chillà, Carmen; Straface, Giuseppe; Biscetti, Federico; Pola, Paolo; Castellot, John; Pola, Roberto
Proceeding from the 2009 genetic syndromes of the Ras/MAPK pathway: from bedside to bench and back
2010 Neri, Giovanni; Rauen, Anita; Carey, John; Hagerman, Randi; Tartaglia, Marco
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: from bedside to bench and back
2009 Neri, Giovanni
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11
2018 De Bernardi, M. L.; Ivanovski, I.; Caraffi, S. G.; Maini, I.; Street, M. E.; Bayat, A.; Zollino, Marcella; Lepri, F. R.; Gnazzo, M.; Errichiello, E.; Superti-Furga, A.; Garavelli, L.
Protocadherin 19 mutations in girls with infantile-onset epilepsy
2010 Marini, C; Mei, Daniele; Parmeggiani, L; Norci, V; Calado, E; Ferrari, A; Moreira, A; Pisano, T; Specchio, N; Vigevano, F; Battaglia, Domenica Immacolata; Guerrini, R.
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-1983 | Morbo di Hodgkin familiare: considerazioni su due famiglie in cui la malattia ha interessato padre e figlio | Marietti, Giovanni; Riccardi, Riccardo; Reali, Laura; De Carolis, Maria Pia; Corbo, Serena; Rumi, Carlo; Ginfelice, M. | |
| 1-gen-2009 | Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome | Neri, Giovanni | |
| 1-gen-2009 | Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. | Neri, Giovanni; Neuman, T. E; Allanson, Judith; Kavamura, Ines; Kerr, B; Noonan, J; Cordeddu, V; Gibson, K.; Tzschach, A.; Kruger, G.; Goecke, T. O.; Kehl, H. G.; Albrecht, B.; Luczak, K.; Musiante, L.; Laurie, R.; Peters, H.; Tarataglia, M.; Zenker, M. | |
| 1-gen-2009 | MUTATION OF SHOC2 PROMOTES ABERRANT PROTEIN N-MYRISTOYLATION AND CAUSES NOONAN-LIKE SUNDROME WITH LOOSE ANAGEN HAIR. | Cordeddu, V; Di Schiavi, E; Zampino, Giuseppe; Dallapiccola, Bruno; Gelb, Bd; Tartaglia, Marco | |
| 1-gen-2014 | Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis | Johnson, Jo; Pioro, Ep; Boehringer, A; Chia, R; Feit, H; Renton, Ae; Pliner, Ha; Abramzon, Y; Marangi, Giuseppe; Winborn, Bj; Gibbs, Jr; Nalls, Ma; Morgan, S; Shoai, M; Hardy, J; Pittman, A; Orrell, Rw; Malaspina, A; Sidle, Kc; Fratta, P; Harms, Mb; Baloh, Rh; Pestronk, A; Weihl, Cc; Rogaeva, E; Zinman, L; Drory, Ve; Borghero, G; Mora, G; Calvo, A; Rothstein, Jd; Drepper, C; Sendtner, M; Singleton, Ab; Taylor, Jp; Cookson, Mr; Restagno, G; Sabatelli, Mario; Bowser, R; Chiò, A; Traynor, Bj; Conte, Amelia; Luigetti, Marco; Zollino, Marcella; Lattante, Serena | |
| 1-gen-2013 | MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events | Aretz, S; Tricarico, R; Papi, L; Spier, I; Pin, E; Horpaopan, S; Lucci Cordisco, Emanuela; Pedroni, M; Stienen, D; Gentile, A; Panza, A; Piepoli, A; De Leon, Mp; Friedl, W; Viel, A; Genuardi, Maurizio | |
| 1-gen-2015 | Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome | Cafiero, C; Marangi, Giuseppe; Orteschi, Daniela; Ali, M; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, V; Battaglia, Domenica Immacolata; Mercuri, Eugenio Maria; Slavotinek, Am; Zollino, Marcella | |
| 1-gen-2020 | De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome | Cappuccio, G.; Sayou, C.; Tanno, P. L.; Tisserant, E.; Bruel, A. -L.; Kennani, S. E.; Sa, J.; Low, K. J.; Dias, C.; Havlovicova, M.; Hancarova, M.; Eichler, E. E.; Devillard, F.; Moutton, S.; Van-Gils, J.; Dubourg, C.; Odent, S.; Gerard, B.; Piton, A.; Yamamoto, T.; Okamoto, N.; Firth, H.; Metcalfe, K.; Moh, A.; Chapman, K. A.; Aref-Eshghi, E.; Kerkhof, J.; Torella, A.; Nigro, V.; Perrin, L.; Piard, J.; Le Guyader, G.; Jouan, T.; Thauvin-Robinet, C.; Duffourd, Y.; George-Abraham, J. K.; Buchanan, C. A.; Williams, D.; Kini, U.; Wilson, K.; Nigro, V.; Brunetti-Pierri, N.; Casari, G.; Cappuccio, G.; Torella, A.; Pinelli, M.; Musacchia, F.; Mutarelli, M.; Carrella, D.; Vitiello, G.; Capra, V.; Parenti, G.; Leuzzi, V.; Selicorni, A.; Maitz, S.; Banfi, S.; Zollino, Marcella; Montomoli, M.; Milani, D.; Romano, C.; Tummolo, A.; De Brasi, D.; Coppola, A.; Santoro, C.; Peron, A.; Pantaleoni, C.; Castello, R.; D'Arrigo, S.; Sousa, S. B.; Hennekam, R. C. M.; Sadikovic, B.; Thevenon, J.; Govin, J.; Vitobello, A.; Brunetti-Pierri, N. | |
| 1-gen-2009 | Overgrowth syndromes: A classification. | Neri, Giovanni; Moscarda, Marco | |
| 1-gen-2009 | Overgrowth syndromes: A classification. In Endocrine Involvement in Developmental Syndromes | Neri, Giovanni; Moscarda, M. | |
| 1-gen-2012 | p73 G4C14-to-A4T14 gene polymorphism and interaction with p53 exon 4 Arg72Pro on cancer susceptibility: a meta-analysis of the literature | De Feo, Emma; Simone, Benedetto; Kamgaing, Rachel Simo; Gallì, Paola; Hamajima, Nobuyuki; Hu, Zhibin; Li, Guojun; Li, Yuan; Matsuo, Keitaro; Park, Jae Yong; Roychoudhury, Susanta; Spitz, Margaret R; Wei, Qingyi; Zhang, Jian Hui; Ricciardi, Gualtiero; Boccia, Stefania | |
| 1-gen-2012 | Patterns of Y-STR variation in Italy. | Brisighelli, Francesca; Blanco Verea, A; Boschi, Ilaria; Garagnani, P; Pascali, Vincenzo Lorenzo; Carracedo, A; Capelli, Cristian; Salas, A. | |
| 1-gen-2018 | Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care | Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P; Ajmone, Paola Francesca; Badura-Stronka, Magdalena; Baldo, Chiara; Baldi, Maddalena; Bayat, Allan; Bigoni, Stefania; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; De Brasi, Daniele; Devriendt, Koenraad; Dinulos, Mary Beth; Hjortshøj, Tina Duelund; Epifanio, Roberta; Faravelli, Francesca; Fiumara, Agata; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Kuburovic, Vladimir; Kutkowska-Kazmierczak, Anna; Lacombe, Didier; Lo Rizzo, Caterina; Luchetti, Anna; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Montorsi, Giulia; Moutton, Sebastien; Møller, Rikke S; Muschke, Petra; Nielsen, Jens Erik Klint; Obersztyn, Ewa; Pantaleoni, Chiara; Pellicciari, Alessandro; Pisanti, Maria Antonietta; Prpic, Igor; Poch-Olive, Maria Luisa; Raviglione, Federico; Renieri, Alessandra; Ricci, Emilia; Rivieri, Francesca; Santen, Gijs W; Savasta, Salvatore; Scarano, Gioacchino; Schanze, Ina; Selicorni, Angelo; Silengo, Margherita; Smigiel, Robert; Spaccini, Luigina; Sorge, Giovanni; Szczaluba, Krzysztof; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zenker, Martin; Conidi, Andrea; Zollino, Marcella; Rauch, Anita; Zweier, Christiane; Garavelli, Livia | |
| 1-gen-2013 | Polymorphism of Beta2-Adrenoceptor and Regular Use of Formoterol in Asthma: Preliminary Results | Fuso, Leonello; Di Perna, Alessandra; Longobardi, Anna; Trove', Andrea; Bisceglia, Michela; Bibi, Benedetta; Angelozzi, Carla; Tiziano, Francesco Danilo; Antonelli Incalzi, Raffaele | |
| 1-gen-2013 | Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. | Boccuto, Luigi; Lauri, Maria; Sarasua, Sm; Skinner, Cd; Buccella, D; Dwivedi, A; Zollino, Marcella; Orteschi, Daniela; Visconti, P; Dupont, B; Tiziano, Francesco Danilo; Schroer, Rj; Neri, Giovanni; Stevenson, Re; Gurrieri, Fiorella; Schwartz, Ce; Collins, Js | |
| 1-gen-2007 | Pro-Inflammatory Genetic Profiles in Subjects with Peripheral Arterial Occlusive Disease and Critical Limb Ischemia | Flex, Andrea; Gaetani, Eleonora; Angelini, Flavia; Sabusco, Alexandra; Chillà, Carmen; Straface, Giuseppe; Biscetti, Federico; Pola, Paolo; Castellot, John; Pola, Roberto | |
| 1-gen-2010 | Proceeding from the 2009 genetic syndromes of the Ras/MAPK pathway: from bedside to bench and back | Neri, Giovanni; Rauen, Anita; Carey, John; Hagerman, Randi; Tartaglia, Marco | |
| 1-gen-2009 | Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: from bedside to bench and back | Neri, Giovanni | |
| 1-gen-2018 | Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11 | De Bernardi, M. L.; Ivanovski, I.; Caraffi, S. G.; Maini, I.; Street, M. E.; Bayat, A.; Zollino, Marcella; Lepri, F. R.; Gnazzo, M.; Errichiello, E.; Superti-Furga, A.; Garavelli, L. | |
| 1-gen-2010 | Protocadherin 19 mutations in girls with infantile-onset epilepsy | Marini, C; Mei, Daniele; Parmeggiani, L; Norci, V; Calado, E; Ferrari, A; Moreira, A; Pisano, T; Specchio, N; Vigevano, F; Battaglia, Domenica Immacolata; Guerrini, R. |
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