Sfoglia per Titolo
Mutation of Rv2887, a marR-Like gene, confers mycobacterium tuberculosis resistance to an imidazopyridine-based agent
2015-01-01 Winglee, Kathryn; Lun, Shichun; Pieroni, Marco; Kozikowski, Alan; Bishai, William
Mutation scanning of the entire COL4A5 coding sequence in Alport syndrome and genotype-phenotype correlation
1995-01-01 A., Renieri; M., Bruttini; L., Galli; Neri, Tauro Maria; P., Zanelli; A., Turco; S., Rossetti; M., Meroni; A., Sessa; L., Massella; G., Rizzoni; G. F., Pignatti; Savi, Mario; A. Ballabio M., De Marchi
Mutation scanning of the entire COL4A5 coding sequence in Alport syndrome and genotype-phenotype correlation.
1995-01-01 Ranieri, A.; Bruttini, M.; Neri, Tauro Maria; Zanelli, P.; Savi, Mario
Mutation screening of pseudoautosomal gene SHOX in idiopathic short stature
1999-01-01 R., Bertorelli; D., Coviello; L., Iughetti; A., Forabosco; Bernasconi, Sergio
Mutation screening of the Otop1 gene in familial benign positional paroxysmal vertigo
2016-01-01 Monzani, Daniele; Fancello, Tatiana; Alicandri Ciufelli, Matteo; Genovese, Elisabetta; Tarugi, Patrizia; Cavazza, Elisa Aggazzotti; Percesepe, Antonio
MUTATION/MIGRATION
2020-01-01 Cortesi, Isotta
Mutational analisys of JAK2 VAL617PHE in a new series of chronic myelomonocytic leukemia and related atypical myeloproliferative disorders
2006-01-01 Roti, Giovanni; La Starza, R; Bury, L; Pecoraro, V; Crescenzi, B; Barba, G; Gambacorti passerini, C; 1 Pogliani, E; Arcioni, F; Pierini, A; Martelli, Mf; Mecucci, C.
A mutational analysis of the 8-17 deoxyribozyme core
2005-01-01 Peracchi, Alessio; Bonaccio, Maria; Clerici, M.
Mutational Analysis of the Binding Pockets of the Diketo Acid Inhibitor L-742,001 in the Influenza Virus PA Endonuclease
2013-01-01 A., Stevaert; R., Dallocchio; A., Dessi; N., Pala; Rogolino, Dominga; M., Sechi; L., Naesens
Mutational effects at the subunit interfaces of human hemoglobin: evidence for a unique sensitivity of the T quaternary state to changes in the hinge region of the alpha1-beta2 interface
2001-01-01 Noble, R. W.; Hui, H. L.; Kwiatkowski, L. D.; Paily, P.; DE YOUNG, A.; Wierzba, A.; Colby, J. E.; Bruno, Stefano; Mozzarelli, Andrea
Mutational Effects on Protein Structural Changes and Interdomain Interactions in the Blue-Light sensing LOV Protein YtvA
2005-01-01 Losi, Aba; Ghiraldelli, E.; Jansen, S.; Gaertner, W.
Mutational profile of malignant pleural mesothelioma (MPM) in the phase II RAMES study
2020-01-01 Pagano, M.; Ceresoli, L. G.; Zucali, P. A.; Pasello, G.; Garassino, M.; Grosso, F.; Tiseo, M.; Parra, H. S.; Zanelli, F.; Cappuzzo, F.; Grossi, F.; De Marinis, F.; Pedrazzoli, P.; Gnoni, R.; Bonelli, C.; Torricelli, F.; Ciarrocchi, A.; Normanno, N.; Pinto, C.
Mutational spectrum of phenylalanine hydroxylase deficiency in sicily: Implications for diagnosis of hyperphenyl-alaninemia in Southern Europe
1993-01-01 Guldberg, P.; Romano, V.; Ceratto, N.; Bosco, P.; Cluna, M.; Indellcato, A.; Mollica, F.; Mell, C.; Glovannini, M.; Riva, E.; Biasucci, G.; Henriksen, K. F.; Guttler, F.
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, malik-percin type
2014-01-01 Malik, Sajid; Percin, Ferda E.; Bornholdt, Dorothea; Albrecht, Beate; Percesepe, Antonio; Koch, Manuela C.; Landi, Antonio; Fritz, Barbara; Khan, Rizwan; Mumtaz, Sara; Akarsu, Nurten A.; Grzeschik, Karl Heinz
Mutations and long-term outcome of 217 young patients with essential thrombocythemia or early primary myelofibrosis
2015-01-01 Palandri, F; Latagliata, R; Polverelli, N; Tieghi, A; Crugnola, Monica; Martino, B; Perricone, M; Breccia, M; Ottaviani, E; Testoni, N; Merli, F; Aversa, Franco; Alimena, G; Cavo, M; Martinelli, G; Catani, L; Baccarani, M; Vianelli, N.
Mutations and phenotypes in dihydropteridine reductase deficiency in Italy
1996-01-01 De Sanctis, L; Alliaudi, C; Spada, M; Cerone, R; Biasucci, G; Blau, N; Ponzone, A; Dianzani, I
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability
2005-01-01 I., Ferrero; F., Fontanesi; L., Palmieri; P., Scarcia; Lodi, Tiziana; Donnini, Claudia; Viola, Anna Maria; A., Limongelli; V., Tiranti; M., Zeviani
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability
2004-01-01 Palmieri, L; Fontanesi, F; Scarcia, P; Lodi, Tiziana; Donnini, Claudia; Viola, Am; Limongelli, A; Tiranti, V; Zeviani, M; FERRERO FORTUNATI, Iliana
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability
2004-01-01 F., Fontanesi; L., Palmieri; P., Scarcia; Lodi, Tiziana; Donnini, Claudia; A., Limongelli; V., Tiranti; M., Zeviani; I., Ferrero; A. M., Viola
Mutations in DSTYK and Dominant Urinary Tract Malformations
2013-01-01 Sanna Cherchi, S; Sampogna, Rv; Papeta, N; Burgess, Ke; Nees, Sn; Perry, Bj; Choi, M; Bodria, M; Liu, Y; Weng, Pl; Lozanovski, Vj; Verbitsky, M; Lugani, F; Sterken, R; Paragas, N; Caridi, G; Carrea, A; Dagnino, M; Materna Kiryluk, A; Santamaria, G; Murtas, Corrado; Ristoska Bojkovska, N; Izzi, C; Kacak, N; Bianco, B; Giberti, S; Gigante, M; Piaggio, G; Gesualdo, L; Vukic, Dk; Vukojevic, K; Saraga Babic, M; Saraga, M; Gucev, Z; Allegri, Landino; Latos Bielenska, A; Casu, D; State, M; Scolari, F; Ravazzolo, R; Kiryluk, K; Al Awqati, Q; D'Agati, Vd; Drummond, Ia; Tasic, V; Lifton, Rp; Ghiggeri, Gm; Gharavi, A. G.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Mutation of Rv2887, a marR-Like gene, confers mycobacterium tuberculosis resistance to an imidazopyridine-based agent | 1-gen-2015 | Winglee, Kathryn; Lun, Shichun; Pieroni, Marco; Kozikowski, Alan; Bishai, William | |
| Mutation scanning of the entire COL4A5 coding sequence in Alport syndrome and genotype-phenotype correlation | 1-gen-1995 | A., Renieri; M., Bruttini; L., Galli; Neri, Tauro Maria; P., Zanelli; A., Turco; S., Rossetti; M., Meroni; A., Sessa; L., Massella; G., Rizzoni; G. F., Pignatti; Savi, Mario; A. Ballabio M., De Marchi | |
| Mutation scanning of the entire COL4A5 coding sequence in Alport syndrome and genotype-phenotype correlation. | 1-gen-1995 | Ranieri, A.; Bruttini, M.; Neri, Tauro Maria; Zanelli, P.; Savi, Mario | |
| Mutation screening of pseudoautosomal gene SHOX in idiopathic short stature | 1-gen-1999 | R., Bertorelli; D., Coviello; L., Iughetti; A., Forabosco; Bernasconi, Sergio | |
| Mutation screening of the Otop1 gene in familial benign positional paroxysmal vertigo | 1-gen-2016 | Monzani, Daniele; Fancello, Tatiana; Alicandri Ciufelli, Matteo; Genovese, Elisabetta; Tarugi, Patrizia; Cavazza, Elisa Aggazzotti; Percesepe, Antonio | |
| MUTATION/MIGRATION | 1-gen-2020 | Cortesi, Isotta | |
| Mutational analisys of JAK2 VAL617PHE in a new series of chronic myelomonocytic leukemia and related atypical myeloproliferative disorders | 1-gen-2006 | Roti, Giovanni; La Starza, R; Bury, L; Pecoraro, V; Crescenzi, B; Barba, G; Gambacorti passerini, C; 1 Pogliani, E; Arcioni, F; Pierini, A; Martelli, Mf; Mecucci, C. | |
| A mutational analysis of the 8-17 deoxyribozyme core | 1-gen-2005 | Peracchi, Alessio; Bonaccio, Maria; Clerici, M. | |
| Mutational Analysis of the Binding Pockets of the Diketo Acid Inhibitor L-742,001 in the Influenza Virus PA Endonuclease | 1-gen-2013 | A., Stevaert; R., Dallocchio; A., Dessi; N., Pala; Rogolino, Dominga; M., Sechi; L., Naesens | |
| Mutational effects at the subunit interfaces of human hemoglobin: evidence for a unique sensitivity of the T quaternary state to changes in the hinge region of the alpha1-beta2 interface | 1-gen-2001 | Noble, R. W.; Hui, H. L.; Kwiatkowski, L. D.; Paily, P.; DE YOUNG, A.; Wierzba, A.; Colby, J. E.; Bruno, Stefano; Mozzarelli, Andrea | |
| Mutational Effects on Protein Structural Changes and Interdomain Interactions in the Blue-Light sensing LOV Protein YtvA | 1-gen-2005 | Losi, Aba; Ghiraldelli, E.; Jansen, S.; Gaertner, W. | |
| Mutational profile of malignant pleural mesothelioma (MPM) in the phase II RAMES study | 1-gen-2020 | Pagano, M.; Ceresoli, L. G.; Zucali, P. A.; Pasello, G.; Garassino, M.; Grosso, F.; Tiseo, M.; Parra, H. S.; Zanelli, F.; Cappuzzo, F.; Grossi, F.; De Marinis, F.; Pedrazzoli, P.; Gnoni, R.; Bonelli, C.; Torricelli, F.; Ciarrocchi, A.; Normanno, N.; Pinto, C. | |
| Mutational spectrum of phenylalanine hydroxylase deficiency in sicily: Implications for diagnosis of hyperphenyl-alaninemia in Southern Europe | 1-gen-1993 | Guldberg, P.; Romano, V.; Ceratto, N.; Bosco, P.; Cluna, M.; Indellcato, A.; Mollica, F.; Mell, C.; Glovannini, M.; Riva, E.; Biasucci, G.; Henriksen, K. F.; Guttler, F. | |
| Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, malik-percin type | 1-gen-2014 | Malik, Sajid; Percin, Ferda E.; Bornholdt, Dorothea; Albrecht, Beate; Percesepe, Antonio; Koch, Manuela C.; Landi, Antonio; Fritz, Barbara; Khan, Rizwan; Mumtaz, Sara; Akarsu, Nurten A.; Grzeschik, Karl Heinz | |
| Mutations and long-term outcome of 217 young patients with essential thrombocythemia or early primary myelofibrosis | 1-gen-2015 | Palandri, F; Latagliata, R; Polverelli, N; Tieghi, A; Crugnola, Monica; Martino, B; Perricone, M; Breccia, M; Ottaviani, E; Testoni, N; Merli, F; Aversa, Franco; Alimena, G; Cavo, M; Martinelli, G; Catani, L; Baccarani, M; Vianelli, N. | |
| Mutations and phenotypes in dihydropteridine reductase deficiency in Italy | 1-gen-1996 | De Sanctis, L; Alliaudi, C; Spada, M; Cerone, R; Biasucci, G; Blau, N; Ponzone, A; Dianzani, I | |
| Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability | 1-gen-2005 | I., Ferrero; F., Fontanesi; L., Palmieri; P., Scarcia; Lodi, Tiziana; Donnini, Claudia; Viola, Anna Maria; A., Limongelli; V., Tiranti; M., Zeviani | |
| Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability | 1-gen-2004 | Palmieri, L; Fontanesi, F; Scarcia, P; Lodi, Tiziana; Donnini, Claudia; Viola, Am; Limongelli, A; Tiranti, V; Zeviani, M; FERRERO FORTUNATI, Iliana | |
| Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability | 1-gen-2004 | F., Fontanesi; L., Palmieri; P., Scarcia; Lodi, Tiziana; Donnini, Claudia; A., Limongelli; V., Tiranti; M., Zeviani; I., Ferrero; A. M., Viola | |
| Mutations in DSTYK and Dominant Urinary Tract Malformations | 1-gen-2013 | Sanna Cherchi, S; Sampogna, Rv; Papeta, N; Burgess, Ke; Nees, Sn; Perry, Bj; Choi, M; Bodria, M; Liu, Y; Weng, Pl; Lozanovski, Vj; Verbitsky, M; Lugani, F; Sterken, R; Paragas, N; Caridi, G; Carrea, A; Dagnino, M; Materna Kiryluk, A; Santamaria, G; Murtas, Corrado; Ristoska Bojkovska, N; Izzi, C; Kacak, N; Bianco, B; Giberti, S; Gigante, M; Piaggio, G; Gesualdo, L; Vukic, Dk; Vukojevic, K; Saraga Babic, M; Saraga, M; Gucev, Z; Allegri, Landino; Latos Bielenska, A; Casu, D; State, M; Scolari, F; Ravazzolo, R; Kiryluk, K; Al Awqati, Q; D'Agati, Vd; Drummond, Ia; Tasic, V; Lifton, Rp; Ghiggeri, Gm; Gharavi, A. G. |
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