PIGNATTI, Pierfranco
PIGNATTI, Pierfranco
DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO
1059G/C polymorphism within the exon 2 of the C-reactive protein gene: relationship to C-reactive protein levels and prognosis in unstable angina.
2007-01-01 Rizzello, V.; Liuzzo, G.; Giannuario, G. D.; Trabetti, Elisabetta; Brugaletta, S.; Santamaria, M.; Piro, M.; Pignatti, Pierfranco; Maseri, A.; Biasucci, L. M.; Crea, F.
807 C/T polymorphism of the glycoprotein IA gene and pharmacogenetic modulation of platelet response to dual antiplatelet treatment
2004-01-01 Angiolillo, D. J.; Fernandez-Ortis, A.; Bernardo, E.; Ramirez, C.; Escaned, J.; Moreno, R.; Hernandez-Antolin, R.; Sabat, M.; Trabetti, E.; Pignatti, P. F.; Macaya, C.
A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease
1995-01-01 Gomez-Lira, M.; Perusi, C.; Brutti, N.; Farnetani, M. A.; Margollicci, M. A.; Rizzuto, N.; Pignatti, P. F.; Salviati, A.
A 931 +2T-C transition in one COL1A2 allele causes exon 16 skipping in pro alpha 2(I) mRNA and produces moderately severe OI
1995-01-01 Zolezzi, F.; Forlino, A.; Mottes, M.; Valli, M.; Sensi, A.; Calzolari, E.; Pignatti, P. F.; Cetta, G.
A base substitution at IVS-19 3' splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta
1994-01-01 Mottes, Monica; Sangalli, Antonella; Valli, M.; Forlino, A.; Gomez, Maria Macarena; Antoniazzi, Franco; CONSTANTINOU DELTAS, C. D.; Cetta, G.; Pignatti, Pierfranco
A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta
1994-01-01 Mottes, M.; Sangalli, A.; Valli, M.; Forlino, A.; Gomez-Lira, M.; Antoniazzi, F.; Constantinou-Deltas, C. D.; Cetta, G.; Pignatti, P. F.
A bioinformatic framework to build junction databases for the detection of alternative splicing isoforms from Next Generation Sequencing data
2011-01-01 Xumerle, Luciano; Ferrarini, Alberto; Mijatovic, Vladan; Delledonne, Massimo; Pignatti, Pierfranco; Malerba, Giovanni
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
1995-01-01 Gomez, Maria Macarena; Sangalli, Antonella; Mottes, Monica; Perusi, C; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro
A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1)
1996-01-01 Bresin, E.; Rossetti, S.; Englisch, S.; Corra, S.; Pignatti, P. F.; Turco, A. E.
A computational method to test for genetic relatedness in unrelated individuals
2007-01-01 Xumerle, Luciano; Malerba, Giovanni; Pignatti, Pierfranco
A computational test for biological relatedness in genetic association studies using probabilistically inferred haplotypes
2008-01-01 Xumerle, Luciano; Malerba, Giovanni; Pignatti, Pierfranco
A de novo G to T transversion in a pro-alpha 1(I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain
1991-01-01 Valli, M.; Mottes, Monica; Tenni, R.; Sangalli, Antonella; Gomez, Maria Macarena; Rossi, A.; Antoniazzi, Franco; Cetta, G.; Pignatti, Pierfranco
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis
2006-01-01 Witt, H; SAHIN TOTH, M; Landt, O; Chen, Jm; Kahne, T; Drenth, Jp; Kukor, Z; Szepessy, E; Halangk, W; Dahm, S; Rohde, K; Schulz, Hu; LE MARECHAL, C; Akar, N; Ammann, Rw; Truninger, K; Bargetzi, M; Bhatia, E; Castellani, C; Cavestro, Gm; Cerny, M; DESTRO BISOL, G; Spedini, G; Eiberg, H; Jansen, Jb; Koudova, M; Rausova, E; MACEK M., Jr; Malats, N; Real, Fx; Menzel, Hj; Moral, P; Galavotti, Roberta; Pignatti, Pierfranco; Rickards, O; Spicak, J; Zarnescu, No; Bock, W; Gress, Tm; Friess, H; Ockenga, J; Schmidt, H; Pfutzer, R; Lohr, M; Simon, P; Weiss, Fu; Lerch, Mm; Teich, N; Keim, V; Berg, T; Wiedenmann, B; Luck, W; Groneberg, Da; Becker, M; Keil, T; Kage, A; Bernardova, J; Braun, M; Guldner, C; Halangk, J; Rosendahl, J; Witt, U; Treiber, M; Nickel, R; Ferec, C.
A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation [letter]
1992-01-01 V., Nunes; Bonizzato, Alberto; A., Gaona; M., Dognini; M., Chillon; T., Casals; Pignatti, Pierfranco; G., Novelli; X., Estivill; Gasparini, Paolo
A genetic risk factor for vascular disease which leads to mild hyperhomocysteinemia is common in northern Italy.
1996-01-01 Friso, Simonetta; Girelli, Domenico; Olivieri, Oliviero; Azzini, M.; Faccini, Giovanni; Pessotto, R.; Russo, C.; Guarini, Patrizia; Minguzzi, Diego; Mazzucco, Alessandro; Pignatti, Pierfranco; Corrocher, Roberto
A genome scan for allergic asthma and related phenotypes in an Italian population sample
2002-01-01 Malerba, Giovanni; Trabetti, Elisabetta; Patuzzo, Cristina; Migliaccio, Carmela; Galavotti, Roberta; Lauciello, Maria Camilla; Xumerle, Luciano; Pescollderungg, L.; Boner, Attilio; Lathrop, M.; Pignatti, Pierfranco
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene
2005-01-01 Modiano, G.; Bombieri, Cristina; Pignatti, Pierfranco; Belpinati, Francesca; Giorgi, S.; Des Georges, M.; Scotet, V.; Pompei, F.; Ciccacci, C.; Guittard, C.; Audrezet, M. P.; Begnini, Angela; Toepfer, M.; Macek, M. J. R.; Ferec, C.; Claustres, M.; Pignatti, P. F.
A low "genetic load" of risk variants for type 2 diabetes is associated to better beta cell function in patients with newly diagnosed type 2 diabetes
2009-01-01 Bonetti, Sara; Trombetta, Maddalena; Boselli, Maria Linda; Malerba, Giovanni; Trabetti, Elisabetta; Pignatti, Pierfranco; Muggeo, Michele; Bonora, Enzo; Bonadonna, Riccardo
A method to detect individuals with different genetic background in case-control studies
2005-01-01 Malerba, Giovanni; Xumerle, Luciano; Bisognin, Andrea; Pignatti, Pierfranco
A method to target individuals with an unusual genetic background and to tag SNPs for linkage disequilibrium (LD) mapping
2005-01-01 Malerba, Giovanni; Xumerle, Luciano; Pignatti, Pierfranco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 1059G/C polymorphism within the exon 2 of the C-reactive protein gene: relationship to C-reactive protein levels and prognosis in unstable angina. | 1-gen-2007 | Rizzello, V.; Liuzzo, G.; Giannuario, G. D.; Trabetti, Elisabetta; Brugaletta, S.; Santamaria, M.; Piro, M.; Pignatti, Pierfranco; Maseri, A.; Biasucci, L. M.; Crea, F. | |
| 807 C/T polymorphism of the glycoprotein IA gene and pharmacogenetic modulation of platelet response to dual antiplatelet treatment | 1-gen-2004 | Angiolillo, D. J.; Fernandez-Ortis, A.; Bernardo, E.; Ramirez, C.; Escaned, J.; Moreno, R.; Hernandez-Antolin, R.; Sabat, M.; Trabetti, E.; Pignatti, P. F.; Macaya, C. | |
| A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease | 1-gen-1995 | Gomez-Lira, M.; Perusi, C.; Brutti, N.; Farnetani, M. A.; Margollicci, M. A.; Rizzuto, N.; Pignatti, P. F.; Salviati, A. | |
| A 931 +2T-C transition in one COL1A2 allele causes exon 16 skipping in pro alpha 2(I) mRNA and produces moderately severe OI | 1-gen-1995 | Zolezzi, F.; Forlino, A.; Mottes, M.; Valli, M.; Sensi, A.; Calzolari, E.; Pignatti, P. F.; Cetta, G. | |
| A base substitution at IVS-19 3' splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta | 1-gen-1994 | Mottes, Monica; Sangalli, Antonella; Valli, M.; Forlino, A.; Gomez, Maria Macarena; Antoniazzi, Franco; CONSTANTINOU DELTAS, C. D.; Cetta, G.; Pignatti, Pierfranco | |
| A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta | 1-gen-1994 | Mottes, M.; Sangalli, A.; Valli, M.; Forlino, A.; Gomez-Lira, M.; Antoniazzi, F.; Constantinou-Deltas, C. D.; Cetta, G.; Pignatti, P. F. | |
| A bioinformatic framework to build junction databases for the detection of alternative splicing isoforms from Next Generation Sequencing data | 1-gen-2011 | Xumerle, Luciano; Ferrarini, Alberto; Mijatovic, Vladan; Delledonne, Massimo; Pignatti, Pierfranco; Malerba, Giovanni | |
| A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. | 1-gen-1995 | Gomez, Maria Macarena; Sangalli, Antonella; Mottes, Monica; Perusi, C; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro | |
| A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1) | 1-gen-1996 | Bresin, E.; Rossetti, S.; Englisch, S.; Corra, S.; Pignatti, P. F.; Turco, A. E. | |
| A computational method to test for genetic relatedness in unrelated individuals | 1-gen-2007 | Xumerle, Luciano; Malerba, Giovanni; Pignatti, Pierfranco | |
| A computational test for biological relatedness in genetic association studies using probabilistically inferred haplotypes | 1-gen-2008 | Xumerle, Luciano; Malerba, Giovanni; Pignatti, Pierfranco | |
| A de novo G to T transversion in a pro-alpha 1(I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain | 1-gen-1991 | Valli, M.; Mottes, Monica; Tenni, R.; Sangalli, Antonella; Gomez, Maria Macarena; Rossi, A.; Antoniazzi, Franco; Cetta, G.; Pignatti, Pierfranco | |
| A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis | 1-gen-2006 | Witt, H; SAHIN TOTH, M; Landt, O; Chen, Jm; Kahne, T; Drenth, Jp; Kukor, Z; Szepessy, E; Halangk, W; Dahm, S; Rohde, K; Schulz, Hu; LE MARECHAL, C; Akar, N; Ammann, Rw; Truninger, K; Bargetzi, M; Bhatia, E; Castellani, C; Cavestro, Gm; Cerny, M; DESTRO BISOL, G; Spedini, G; Eiberg, H; Jansen, Jb; Koudova, M; Rausova, E; MACEK M., Jr; Malats, N; Real, Fx; Menzel, Hj; Moral, P; Galavotti, Roberta; Pignatti, Pierfranco; Rickards, O; Spicak, J; Zarnescu, No; Bock, W; Gress, Tm; Friess, H; Ockenga, J; Schmidt, H; Pfutzer, R; Lohr, M; Simon, P; Weiss, Fu; Lerch, Mm; Teich, N; Keim, V; Berg, T; Wiedenmann, B; Luck, W; Groneberg, Da; Becker, M; Keil, T; Kage, A; Bernardova, J; Braun, M; Guldner, C; Halangk, J; Rosendahl, J; Witt, U; Treiber, M; Nickel, R; Ferec, C. | |
| A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation [letter] | 1-gen-1992 | V., Nunes; Bonizzato, Alberto; A., Gaona; M., Dognini; M., Chillon; T., Casals; Pignatti, Pierfranco; G., Novelli; X., Estivill; Gasparini, Paolo | |
| A genetic risk factor for vascular disease which leads to mild hyperhomocysteinemia is common in northern Italy. | 1-gen-1996 | Friso, Simonetta; Girelli, Domenico; Olivieri, Oliviero; Azzini, M.; Faccini, Giovanni; Pessotto, R.; Russo, C.; Guarini, Patrizia; Minguzzi, Diego; Mazzucco, Alessandro; Pignatti, Pierfranco; Corrocher, Roberto | |
| A genome scan for allergic asthma and related phenotypes in an Italian population sample | 1-gen-2002 | Malerba, Giovanni; Trabetti, Elisabetta; Patuzzo, Cristina; Migliaccio, Carmela; Galavotti, Roberta; Lauciello, Maria Camilla; Xumerle, Luciano; Pescollderungg, L.; Boner, Attilio; Lathrop, M.; Pignatti, Pierfranco | |
| A large-scale study of the random variability of a coding sequence: a study on the CFTR gene | 1-gen-2005 | Modiano, G.; Bombieri, Cristina; Pignatti, Pierfranco; Belpinati, Francesca; Giorgi, S.; Des Georges, M.; Scotet, V.; Pompei, F.; Ciccacci, C.; Guittard, C.; Audrezet, M. P.; Begnini, Angela; Toepfer, M.; Macek, M. J. R.; Ferec, C.; Claustres, M.; Pignatti, P. F. | |
| A low "genetic load" of risk variants for type 2 diabetes is associated to better beta cell function in patients with newly diagnosed type 2 diabetes | 1-gen-2009 | Bonetti, Sara; Trombetta, Maddalena; Boselli, Maria Linda; Malerba, Giovanni; Trabetti, Elisabetta; Pignatti, Pierfranco; Muggeo, Michele; Bonora, Enzo; Bonadonna, Riccardo | |
| A method to detect individuals with different genetic background in case-control studies | 1-gen-2005 | Malerba, Giovanni; Xumerle, Luciano; Bisognin, Andrea; Pignatti, Pierfranco | |
| A method to target individuals with an unusual genetic background and to tag SNPs for linkage disequilibrium (LD) mapping | 1-gen-2005 | Malerba, Giovanni; Xumerle, Luciano; Pignatti, Pierfranco |