Sfoglia per Titolo
Mutamenti e aggiornamenti dei presidi antisismici dell'architettura premoderna dell'Abruzzo aquilano tra modi di costruire e normative tecniche.
2021-01-01 DI GIOVANNI, Gianni
Mutants of plant genes as adjuvants for cancer vaccines
2011-01-01 MASSA S., PAOLINI F; Spano', Laura; Franconi, R; Venuti, A.
Mutants of plant genes as adjuvants for cancer vaccines
2011-01-01 Massa, S; Paolini, F; Spano', Laura; Venuti, A; Franconi, R.
Mutants of plant genes for developing cancer vaccines.
2011-01-01 S., Massa; F., Paolini; Spano', Laura; R. FRANCONI A., Venuti
Mutants of plant genes for the development of cancer vaccines
2010-01-01 Massa, S; Franconi, R; Spano', Laura; Paolini, F; Venuti, A.
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience
2020-01-01 Mannucci, Liliana; Luciano, Serena; Salehi, Leila B; Gigante, Laura; Conte, Chiara; Longo, Giuliana; Ferradini, Valentina; Piumelli, Nunzia; Brancati, Francesco; Ruvolo, Giovanni; Novelli, Giuseppe; Sangiuolo, Federica
A mutation in the ZNF687 gene that is responsible for the severe form of Paget's disease of bone causes severely altered bone remodeling and promotes hepatocellular carcinoma onset in a knock-in mouse model
2023-01-01 Russo, Sharon; Scotto di Carlo, Federica; Maurizi, Antonio; Fortunato, Giorgio; Teti, Anna; Licastro, Danilo; Settembre, Carmine; Mello, Tommaso; Gianfrancesco, Fernando
Mutation screening of the DYT6/THAP1 gene in Italy.
2009-01-01 Bonetti, M; Barzaghi, C; Brancati, F; Ferraris, A; Bellacchio, E; Giovanetti, A; Ialongo, T; Zorzi, G; Piano, C; Petracca, M; Albanese, A; Nardocci, N; Dallapiccola, B; Bentivoglio, Ar; Garavaglia, B; Valente, Em
Mutational Effects on Carbapenem Hydrolysis of YEM-1, a New Subclass B2 Metallo-β-Lactamase from Yersinia mollaretii.
2020-01-01 Mercuri, Ps; Esposito, R; Blétard, S; Di Costanzo, S; Perilli, M; Kerff, F; Galleni,
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants
2019-01-01 Fusco, Carmela; Nardella, Grazia; Fischetto, Rita; Copetti, Massimiliano; Petracca, Antonio; Annunziata, Francesca; Augello, Bartolomeo; D'Asdia, Maria Cecilia; Petrucci, Simona; Mattina, Teresa; Rella, Annalisa; Cassina, Matteo; Bengala, Mario; Biagini, Tommaso; Causio, Francesco Andrea; Caldarini, Camilla; Brancati, Francesco; De Luca, Alessandro; Guarnieri, Vito; Micale, Lucia; D'Agruma, Leonardo; Castori, Marco
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
2011-01-01 Sirmaci, A.; Spiliopoulos, M.; Brancati, F.; Powell, E.; Duman, D.; Abrams, A.; Bademci, G.; Agolini, E.; Guo, S.; Konuk, B.; Kavaz, A.; Blanton, S.; Digilio, M. C.; Dallapiccola, B.; Young, J.; Zuchner, S.; Tekin, M.
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome
2014-01-01 Hussain Muhammad, Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat Mohammad, Reza; Sakakibara, Shin-Ichi; Altmüller, Janine; Thiele, Holger; Nürnberg, Gudrun; Moosa, Shahida; Yigit, Gökhan; Beleggia, Filippo; Tinschert, Sigrid; Clayton-Smith, Jill; Vasudevan, Pradeep; Urquhart Jill, E.; Donnai, Dian; Fryer, Alan; Percin, Ferda; Brancati, Francesco; Dobbie, Angus; Smigiel, Robert; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd; Anna Noegel, Angelika; Newman William, G.; Nürnberg, Peter
Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia
2008-01-01 Zuccarello, D; Ferlin, A; Cazzadore, C; Pepe, A; Garolla, A; Cordeschi, G; Francavilla, Sandro; Foresta, C.
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
2009-01-01 Bielas, Sl; Silhavy, Jl; Brancati, F; Kisseleva, Mv; Al-Gazali, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; Abdel-Aleem, A; Rosti, Ro; Kayserili, H; Swistun, D; Scott, Lc; Bertini, E; Boltshauser, E; Fazzi, E; Travaglini, L; Field, Sj; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, Pw; Valente, Em; Gleeson, Jg
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
2010-01-01 Brancati, Francesco; Fortugno, P; Bottillo, I; Lopez, M; Josselin, E; Boudghene Stambouli, O; Agolini, E; Bernardini, L; Bellacchio, E; Iannicelli, M; Rossi, A; Dib Lachachi, A; Stuppia, Liborio; Palka, Giandomenico; Mundlos, S; Stricker, S; Kornak, U; Zambruno, G; Dallapiccola, B
Mutations in PYCR1 cause cutis laxa with progeroid features.
2009-01-01 Reversade, B; Escande-Beillard, N; Dimopoulou, A; Fischer, B; Chng, Sc; Li, Y; Shboul, M; Tham, Py; Kayserili, H; Al-Gazali, L; Shahwan, M; Brancati, F; Lee, H; O'Connor, Bd; Schmidt-von Kegler, M; Merriman, B; Nelson, Sf; Masri, A; Alkazaleh, F; Guerra, D; Ferrari, P; Nanda, A; Rajab, A; Markie, D; Gray, M; Nelson, J; Grix, A; Sommer, A; Savarirayan, R; Janecke, Ar; Steichen, E; Sillence, D; Hausser, I; Budde, B; Nürnberg, G; Nürnberg, P; Seemann, P; Kunkel, D; Zambruno, G; Dallapiccola, B; Schuelke, M; Robertson, S; Hamamy, H; Wollnik, B; Van Maldergem, L; Mundlos, S; Kornak, U
Mutations in TAF8 cause a neurodegenerative disorder
2022-01-01 Wong, K. M.; Jepsen, W. M.; Efthymiou, S.; Salpietro, Vincenzo; Sanchez-Castillo, M.; Yip, J.; Kriouile, Y.; Diegmann, S.; Dreha-Kulaczewski, S.; Altmuller, J.; Thiele, H.; Nurnberg, P.; Toosi, M. B.; Akhondian, J.; Ghayoor Karimiani, E.; Hummel-Abmeier, H.; Huppke, B.; Houlden, H.; Gartner, J.; Maroofian, R.; Huppke, P.
Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas
2007-01-01 Barlier, A; Vanbellinghen, Jf; Daly, Af; Silvy, M; Jaffrain, MARIE LISE; Trouillas, J; Tamagno, G; Cazabat, L; Bours, V; Brue, T; Enjalbert, A; Beckers, A.
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome.
2006-01-01 Em, Valente; Jl, Silhavy; Brancati, F.; G, Barrano; Sr, Krishnaswami; M, Castori; Ma, Lancaster; E, Boltshauser; L, Boccone; L, AL-GAZALI; E, Fazzi; S, Signorini; Cm, Louie; E, Bellacchio; E, Bertini; B, DALLA PICCOLA; Gleeson, Jg
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
2008-01-01 V, Cantagrel; Jl, Silhavy; Sl, Bielas; D, Swistun; Se, Marsh; Jy, Bertrand; S, Audollent; T, ATTIÉ-BITACH; Kr, Holden; Wb, Dobyns; D, Traver; L, AL-GAZALI; Br, Ali; Th, Lindner; T, Caspary; Ea, Otto; F, Hildebrandt; Ia, Glass; Cv, Logan; Ca, Johnson; C, Bennett; Brancati, F.; Em, Valente; Cg, Woods; Jg, Gleeson
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Mutamenti e aggiornamenti dei presidi antisismici dell'architettura premoderna dell'Abruzzo aquilano tra modi di costruire e normative tecniche. | 1-gen-2021 | DI GIOVANNI, Gianni | |
| Mutants of plant genes as adjuvants for cancer vaccines | 1-gen-2011 | MASSA S., PAOLINI F; Spano', Laura; Franconi, R; Venuti, A. | |
| Mutants of plant genes as adjuvants for cancer vaccines | 1-gen-2011 | Massa, S; Paolini, F; Spano', Laura; Venuti, A; Franconi, R. | |
| Mutants of plant genes for developing cancer vaccines. | 1-gen-2011 | S., Massa; F., Paolini; Spano', Laura; R. FRANCONI A., Venuti | |
| Mutants of plant genes for the development of cancer vaccines | 1-gen-2010 | Massa, S; Franconi, R; Spano', Laura; Paolini, F; Venuti, A. | |
| Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience | 1-gen-2020 | Mannucci, Liliana; Luciano, Serena; Salehi, Leila B; Gigante, Laura; Conte, Chiara; Longo, Giuliana; Ferradini, Valentina; Piumelli, Nunzia; Brancati, Francesco; Ruvolo, Giovanni; Novelli, Giuseppe; Sangiuolo, Federica | |
| A mutation in the ZNF687 gene that is responsible for the severe form of Paget's disease of bone causes severely altered bone remodeling and promotes hepatocellular carcinoma onset in a knock-in mouse model | 1-gen-2023 | Russo, Sharon; Scotto di Carlo, Federica; Maurizi, Antonio; Fortunato, Giorgio; Teti, Anna; Licastro, Danilo; Settembre, Carmine; Mello, Tommaso; Gianfrancesco, Fernando | |
| Mutation screening of the DYT6/THAP1 gene in Italy. | 1-gen-2009 | Bonetti, M; Barzaghi, C; Brancati, F; Ferraris, A; Bellacchio, E; Giovanetti, A; Ialongo, T; Zorzi, G; Piano, C; Petracca, M; Albanese, A; Nardocci, N; Dallapiccola, B; Bentivoglio, Ar; Garavaglia, B; Valente, Em | |
| Mutational Effects on Carbapenem Hydrolysis of YEM-1, a New Subclass B2 Metallo-β-Lactamase from Yersinia mollaretii. | 1-gen-2020 | Mercuri, Ps; Esposito, R; Blétard, S; Di Costanzo, S; Perilli, M; Kerff, F; Galleni, | |
| Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants | 1-gen-2019 | Fusco, Carmela; Nardella, Grazia; Fischetto, Rita; Copetti, Massimiliano; Petracca, Antonio; Annunziata, Francesca; Augello, Bartolomeo; D'Asdia, Maria Cecilia; Petrucci, Simona; Mattina, Teresa; Rella, Annalisa; Cassina, Matteo; Bengala, Mario; Biagini, Tommaso; Causio, Francesco Andrea; Caldarini, Camilla; Brancati, Francesco; De Luca, Alessandro; Guarnieri, Vito; Micale, Lucia; D'Agruma, Leonardo; Castori, Marco | |
| Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. | 1-gen-2011 | Sirmaci, A.; Spiliopoulos, M.; Brancati, F.; Powell, E.; Duman, D.; Abrams, A.; Bademci, G.; Agolini, E.; Guo, S.; Konuk, B.; Kavaz, A.; Blanton, S.; Digilio, M. C.; Dallapiccola, B.; Young, J.; Zuchner, S.; Tekin, M. | |
| Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome | 1-gen-2014 | Hussain Muhammad, Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat Mohammad, Reza; Sakakibara, Shin-Ichi; Altmüller, Janine; Thiele, Holger; Nürnberg, Gudrun; Moosa, Shahida; Yigit, Gökhan; Beleggia, Filippo; Tinschert, Sigrid; Clayton-Smith, Jill; Vasudevan, Pradeep; Urquhart Jill, E.; Donnai, Dian; Fryer, Alan; Percin, Ferda; Brancati, Francesco; Dobbie, Angus; Smigiel, Robert; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd; Anna Noegel, Angelika; Newman William, G.; Nürnberg, Peter | |
| Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia | 1-gen-2008 | Zuccarello, D; Ferlin, A; Cazzadore, C; Pepe, A; Garolla, A; Cordeschi, G; Francavilla, Sandro; Foresta, C. | |
| Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. | 1-gen-2009 | Bielas, Sl; Silhavy, Jl; Brancati, F; Kisseleva, Mv; Al-Gazali, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; Abdel-Aleem, A; Rosti, Ro; Kayserili, H; Swistun, D; Scott, Lc; Bertini, E; Boltshauser, E; Fazzi, E; Travaglini, L; Field, Sj; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, Pw; Valente, Em; Gleeson, Jg | |
| Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. | 1-gen-2010 | Brancati, Francesco; Fortugno, P; Bottillo, I; Lopez, M; Josselin, E; Boudghene Stambouli, O; Agolini, E; Bernardini, L; Bellacchio, E; Iannicelli, M; Rossi, A; Dib Lachachi, A; Stuppia, Liborio; Palka, Giandomenico; Mundlos, S; Stricker, S; Kornak, U; Zambruno, G; Dallapiccola, B | |
| Mutations in PYCR1 cause cutis laxa with progeroid features. | 1-gen-2009 | Reversade, B; Escande-Beillard, N; Dimopoulou, A; Fischer, B; Chng, Sc; Li, Y; Shboul, M; Tham, Py; Kayserili, H; Al-Gazali, L; Shahwan, M; Brancati, F; Lee, H; O'Connor, Bd; Schmidt-von Kegler, M; Merriman, B; Nelson, Sf; Masri, A; Alkazaleh, F; Guerra, D; Ferrari, P; Nanda, A; Rajab, A; Markie, D; Gray, M; Nelson, J; Grix, A; Sommer, A; Savarirayan, R; Janecke, Ar; Steichen, E; Sillence, D; Hausser, I; Budde, B; Nürnberg, G; Nürnberg, P; Seemann, P; Kunkel, D; Zambruno, G; Dallapiccola, B; Schuelke, M; Robertson, S; Hamamy, H; Wollnik, B; Van Maldergem, L; Mundlos, S; Kornak, U | |
| Mutations in TAF8 cause a neurodegenerative disorder | 1-gen-2022 | Wong, K. M.; Jepsen, W. M.; Efthymiou, S.; Salpietro, Vincenzo; Sanchez-Castillo, M.; Yip, J.; Kriouile, Y.; Diegmann, S.; Dreha-Kulaczewski, S.; Altmuller, J.; Thiele, H.; Nurnberg, P.; Toosi, M. B.; Akhondian, J.; Ghayoor Karimiani, E.; Hummel-Abmeier, H.; Huppke, B.; Houlden, H.; Gartner, J.; Maroofian, R.; Huppke, P. | |
| Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas | 1-gen-2007 | Barlier, A; Vanbellinghen, Jf; Daly, Af; Silvy, M; Jaffrain, MARIE LISE; Trouillas, J; Tamagno, G; Cazabat, L; Bours, V; Brue, T; Enjalbert, A; Beckers, A. | |
| Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. | 1-gen-2006 | Em, Valente; Jl, Silhavy; Brancati, F.; G, Barrano; Sr, Krishnaswami; M, Castori; Ma, Lancaster; E, Boltshauser; L, Boccone; L, AL-GAZALI; E, Fazzi; S, Signorini; Cm, Louie; E, Bellacchio; E, Bertini; B, DALLA PICCOLA; Gleeson, Jg | |
| Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome | 1-gen-2008 | V, Cantagrel; Jl, Silhavy; Sl, Bielas; D, Swistun; Se, Marsh; Jy, Bertrand; S, Audollent; T, ATTIÉ-BITACH; Kr, Holden; Wb, Dobyns; D, Traver; L, AL-GAZALI; Br, Ali; Th, Lindner; T, Caspary; Ea, Otto; F, Hildebrandt; Ia, Glass; Cv, Logan; Ca, Johnson; C, Bennett; Brancati, F.; Em, Valente; Cg, Woods; Jg, Gleeson |
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