Sfoglia per Titolo
Mutation of the Former Fasil Barracks in Sappada into Temporary Co-Living Residences
2024 Gaiani, Alessandro
Mutation pattern in clinically asymptomatic coagulation factor VII deficiency
file con accesso da definire1996 Bernardi, Francesco; Castaman, G; Pinotti, Mirko; Ferraresi, Paolo; DI IASIO, Maria Grazia; Lunghi, Barbara; Rodeghiero, F; Marchetti, Giovanna
Mutation-specific contributions to trace factor X levels account for a life-threating phenotype in a compound heterozygous factor X deficient patient
file con accesso da definire2018 Ferrarese, Mattia; Baroni, Marcello; Della Valle, Patrizia; Spiga, Ivana; Poloniato, Antonella; D'Angelo, Armando; Bernardi, Francesco; Branchini, Alessio
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome
file con accesso da definire2010 Pacifico, L.; Carducci, C.; Poggiogalle, E.; Caravona, F.; Antonozzi, I.; Chiesa, C.; Maggiore, G.
Mutational analysis of SARS-CoV-2 ORF6-KPNA2 binding interface and identification of potent small molecule inhibitors to recuse the host immune system
2024 Suleman, M; Said, A; Khan, H; Rehman, Su; Alshammari, A; Crovella, S; Yassine, Hm
Mutational burden of resectable pancreatic cancer by whole-transcriptome and whole-exome sequencing could predict a poor prognosis
file con accesso da definire2018 Grassi, Elisa; Durante, Sandra; Astolfi, Annalisa; Tarantino, Giuseppe; Indio, Valentina; Freier, Eva; Casadei, Riccardo; Ricci, Claudio; Comito, Francesca; Filippini, Daria; Formica, Francesca; Serra, Carla; Santini, Donatella; D'Errico, Antonietta; Minni, Francesco; Biasco, Guido; Di Marco, Mariacristina
Mutational burden of resectable pancreatic cancer, as determined by whole transcriptome and whole exome sequencing, predicts a poor prognosis
2018 Grassi, Elisa; Durante, Sandra; Astolfi, Annalisa; Tarantino, Giuseppe; Indio, Valentina; Freier, Eva; Vecchiarelli, Silvia; Ricci, Claudio; Casadei, Riccardo; Francesca, Formica; DARIA MARIA, Filippini; Comito, Francesca; Serra, Carla; Santini, Donatella; D' ERRICO, Antonietta; Minni, Francesco; Biasco, Guido; DI MARCO, Mariacristina
Mutational landscape and gene-expression patterns in adult acute myeloid leukemias with monosomy 7 as a sole abnormality
file con accesso da definire2017 Eisfeld, Ann Kathrin; Kohlschmidt, Jessica; Mrozek, Krzysztof; Volinia, Stefano; Blachly, James S; Nicolet, Deedra; Oakes, Christopher; Kroll, Karl; Orwick, Shelley; Carroll, Andrew J; Stone, Richard M; Byrd, John C; de la Chapelle, Albert; Bloomfield, Clara D.
Mutational landscape of Zika virus strains worldwide and its structural impact on proteins
file con accesso da definire2019 Agrelli, A.; De Moura, R. R.; Crovella, S.; Brandao, L. A. C.
Mutational screening of 25 unrelated FV-deficient patients from 6 countries.
file con accesso da definire2009 Guella, I; Paraboschi, Em; Duga, S; Peyvandi, F; Gemmati, Donato; Ciavarella, N; Mannucci, Pm; Asselta, R.
Mutational status predicts the risk of thromboembolic events in lung adenocarcinoma
file con accesso da definire2017 Davidsson, Elsa; Murgia, Nicola; Ortiz Villalón, Cristian; Wiklundh, Emil; Sköld, Magnus; Kölbeck, Karl Gustav; Ferrara, Giovanni
Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells
file con accesso da definire1999 Aguiari, Gianluca; Manzati, Elisa; Penolazzi, Maria Letizia; Micheletti, Fabiola; Augello, G; DE PAOLI VITALI, E; Cappelli, G; Cai, Y; Reynolds, D; Somlo, S; Piva, Maria Roberta; DEL SENNO, Laura
Mutations in blind cavefish target the light-regulated circadian clock gene, period 2
2018 Ceinos, Rosa Maria; Frigato, Elena; Pagano, Cristina; Fröhlich, Nadine; Negrini, Pietro; Cavallari, Nicola; Vallone, Daniela; Fuselli, Silvia; Bertolucci, Cristiano; Foulkes, Nicholas S
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
file con accesso da definire1999 Grifa, A; Wagner, Ca; D'Ambrosio, L; Melchionda, S; Bernardi, Francesco; LOPEZ BIGAS, N; Rabionet, R; Arbones, M; Monica, Md; Estivill, X; Zelante, L; Lang, F; Gasparini, P.
Mutations in RAD21 disrupt regulation of apob in patients with chronic intestinal pseudo-obstruction
2015 Bonora, E; Bianco, F; Cordeddu, L; Bamshad, M; Francescatto, L; Dowless, D; Stanghellini, V; Cogliandro, Rf; Lindberg, G; Mungan, Z; Cefle, K; Ozcelik, T; Palanduz, S; Ozturk, S; Gedikbasi, A; Gori, A; Pippucci, T; Graziano, C; Volta, U; Caio, G; Barbara, G; D'Amato, M; Seri, M; Katsanis, N; Romeo, G; De Giorgio, R.
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
file con accesso da definire2013 Dlamini, N; Voermans, Nc; Lillis, S; Stewart, K; Kamsteeg, Ej; Drost, G; Quinlivan, R; Snoeck, M; Norwood, F; Radunovic, A; Straub, V; Roberts, M; Vrancken, Af; van der Pol, Wl; de Coo, Ri; Manzur, Ay; Yau, S; Abbs, S; King, A; Lammens, M; Hopkins, Pm; Mohammed, S; Treves, Susan Nella; Muntoni, F; Wraige, E; Davis, Mr; van Engelen, B; Jungbluth, H.
Mutations in the laminin α2-chain gene in two children with early-onset muscular dystrophy
file con accesso da definire2000 Naom, I; D'Alessandro, M; Sewry, Ca; Jardine, P; Ferlini, Alessandra; Moss, T; Dubowitz, V; Muntoni, F.
Mutations in the R2 FV gene affect the ratio between the two FV isoforms in plasma
file con accesso da definire2000 Castoldi, Elisabetta; Rosing, J; Girelli, D; Hoekema, L; Lunghi, Barbara; Mingozzi, Federico; Ferraresi, Paolo; Friso, S; Corrocher, R; Tans, G; Bernardi, Francesco
Mutations in the transcription factor FOXO1 mimic positive selection signals to promote germinal center B cell expansion and lymphomagenesis
2021 Roberto, M. P.; Varano, G.; Vinas-Castells, R.; Holmes, A. B.; Kumar, R.; Pasqualucci, L.; Farinha, P.; Scott, D. W.; Dominguez-Sola, D.
Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+
2015 Venco, Paola; Bonora, Massimo; Giorgi, Carlotta; Papaleo, Elena; Iuso, Arcangela; Prokisch, Holger; Pinton, Paolo; Tiranti, Valeria
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Mutation of the Former Fasil Barracks in Sappada into Temporary Co-Living Residences | 2024 | Gaiani, Alessandro | |
| Mutation pattern in clinically asymptomatic coagulation factor VII deficiency | 1996 | Bernardi, Francesco; Castaman, G; Pinotti, Mirko; Ferraresi, Paolo; DI IASIO, Maria Grazia; Lungh...i, Barbara; Rodeghiero, F; Marchetti, Giovanna | file con accesso da definire |
| Mutation-specific contributions to trace factor X levels account for a life-threating phenotype in a compound heterozygous factor X deficient patient | 2018 | Ferrarese, Mattia; Baroni, Marcello; Della Valle, Patrizia; Spiga, Ivana; Poloniato, Antonella; D...'Angelo, Armando; Bernardi, Francesco; Branchini, Alessio | file con accesso da definire |
| Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome | 2010 | Pacifico, L.; Carducci, C.; Poggiogalle, E.; Caravona, F.; Antonozzi, I.; Chiesa, C.; Maggiore, G. | file con accesso da definire |
| Mutational analysis of SARS-CoV-2 ORF6-KPNA2 binding interface and identification of potent small molecule inhibitors to recuse the host immune system | 2024 | Suleman, M; Said, A; Khan, H; Rehman, Su; Alshammari, A; Crovella, S; Yassine, Hm | |
| Mutational burden of resectable pancreatic cancer by whole-transcriptome and whole-exome sequencing could predict a poor prognosis | 2018 | Grassi, Elisa; Durante, Sandra; Astolfi, Annalisa; Tarantino, Giuseppe; Indio, Valentina; Freier,... Eva; Casadei, Riccardo; Ricci, Claudio; Comito, Francesca; Filippini, Daria; Formica, Francesca; Serra, Carla; Santini, Donatella; D'Errico, Antonietta; Minni, Francesco; Biasco, Guido; Di Marco, Mariacristina | file con accesso da definire |
| Mutational burden of resectable pancreatic cancer, as determined by whole transcriptome and whole exome sequencing, predicts a poor prognosis | 2018 | Grassi, Elisa; Durante, Sandra; Astolfi, Annalisa; Tarantino, Giuseppe; Indio, Valentina; Freier,... Eva; Vecchiarelli, Silvia; Ricci, Claudio; Casadei, Riccardo; Francesca, Formica; DARIA MARIA, Filippini; Comito, Francesca; Serra, Carla; Santini, Donatella; D' ERRICO, Antonietta; Minni, Francesco; Biasco, Guido; DI MARCO, Mariacristina | |
| Mutational landscape and gene-expression patterns in adult acute myeloid leukemias with monosomy 7 as a sole abnormality | 2017 | Eisfeld, Ann Kathrin; Kohlschmidt, Jessica; Mrozek, Krzysztof; Volinia, Stefano; Blachly, James S...; Nicolet, Deedra; Oakes, Christopher; Kroll, Karl; Orwick, Shelley; Carroll, Andrew J; Stone, Richard M; Byrd, John C; de la Chapelle, Albert; Bloomfield, Clara D. | file con accesso da definire |
| Mutational landscape of Zika virus strains worldwide and its structural impact on proteins | 2019 | Agrelli, A.; De Moura, R. R.; Crovella, S.; Brandao, L. A. C. | file con accesso da definire |
| Mutational screening of 25 unrelated FV-deficient patients from 6 countries. | 2009 | Guella, I; Paraboschi, Em; Duga, S; Peyvandi, F; Gemmati, Donato; Ciavarella, N; Mannucci, Pm; As...selta, R. | file con accesso da definire |
| Mutational status predicts the risk of thromboembolic events in lung adenocarcinoma | 2017 | Davidsson, Elsa; Murgia, Nicola; Ortiz Villalón, Cristian; Wiklundh, Emil; Sköld, Magnus; Kölbeck..., Karl Gustav; Ferrara, Giovanni | file con accesso da definire |
| Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells | 1999 | Aguiari, Gianluca; Manzati, Elisa; Penolazzi, Maria Letizia; Micheletti, Fabiola; Augello, G; DE ...PAOLI VITALI, E; Cappelli, G; Cai, Y; Reynolds, D; Somlo, S; Piva, Maria Roberta; DEL SENNO, Laura | file con accesso da definire |
| Mutations in blind cavefish target the light-regulated circadian clock gene, period 2 | 2018 | Ceinos, Rosa Maria; Frigato, Elena; Pagano, Cristina; Fröhlich, Nadine; Negrini, Pietro; Cavallar...i, Nicola; Vallone, Daniela; Fuselli, Silvia; Bertolucci, Cristiano; Foulkes, Nicholas S | |
| Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus | 1999 | Grifa, A; Wagner, Ca; D'Ambrosio, L; Melchionda, S; Bernardi, Francesco; LOPEZ BIGAS, N; Rabionet..., R; Arbones, M; Monica, Md; Estivill, X; Zelante, L; Lang, F; Gasparini, P. | file con accesso da definire |
| Mutations in RAD21 disrupt regulation of apob in patients with chronic intestinal pseudo-obstruction | 2015 | Bonora, E; Bianco, F; Cordeddu, L; Bamshad, M; Francescatto, L; Dowless, D; Stanghellini, V; Cogl...iandro, Rf; Lindberg, G; Mungan, Z; Cefle, K; Ozcelik, T; Palanduz, S; Ozturk, S; Gedikbasi, A; Gori, A; Pippucci, T; Graziano, C; Volta, U; Caio, G; Barbara, G; D'Amato, M; Seri, M; Katsanis, N; Romeo, G; De Giorgio, R. | |
| Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis | 2013 | Dlamini, N; Voermans, Nc; Lillis, S; Stewart, K; Kamsteeg, Ej; Drost, G; Quinlivan, R; Snoeck, M;... Norwood, F; Radunovic, A; Straub, V; Roberts, M; Vrancken, Af; van der Pol, Wl; de Coo, Ri; Manzur, Ay; Yau, S; Abbs, S; King, A; Lammens, M; Hopkins, Pm; Mohammed, S; Treves, Susan Nella; Muntoni, F; Wraige, E; Davis, Mr; van Engelen, B; Jungbluth, H. | file con accesso da definire |
| Mutations in the laminin α2-chain gene in two children with early-onset muscular dystrophy | 2000 | Naom, I; D'Alessandro, M; Sewry, Ca; Jardine, P; Ferlini, Alessandra; Moss, T; Dubowitz, V; Munto...ni, F. | file con accesso da definire |
| Mutations in the R2 FV gene affect the ratio between the two FV isoforms in plasma | 2000 | Castoldi, Elisabetta; Rosing, J; Girelli, D; Hoekema, L; Lunghi, Barbara; Mingozzi, Federico; Fer...raresi, Paolo; Friso, S; Corrocher, R; Tans, G; Bernardi, Francesco | file con accesso da definire |
| Mutations in the transcription factor FOXO1 mimic positive selection signals to promote germinal center B cell expansion and lymphomagenesis | 2021 | Roberto, M. P.; Varano, G.; Vinas-Castells, R.; Holmes, A. B.; Kumar, R.; Pasqualucci, L.; Farinh...a, P.; Scott, D. W.; Dominguez-Sola, D. | |
| Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+ | 2015 | Venco, Paola; Bonora, Massimo; Giorgi, Carlotta; Papaleo, Elena; Iuso, Arcangela; Prokisch, Holge...r; Pinton, Paolo; Tiranti, Valeria |
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