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 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 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 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 mild phenotype of incontinentia pigmenti in a male child: DNA confirmation of a somatic mosaicism
2001-01-01 S., Rugolotto; T., Bardaro; T., Esposito; F., Soli; Turco, Alberto; Pignatti, Pierfranco; M., D'Urso
A new approach to identify non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.
2000-01-01 Bombieri, Cristina; S., Giorgi; C., Soukeyna; R., Decid; Belpinati, Francesca; C., Tandoi; N., Pallares Ruiz; C., Lazaro; B. M., Ciminelli; M. C., Romey; T., Casals; F., Pompei; G., Gandini; M., Claustres; X., Estivill; Pignatti, Pierfranco; G., Modiano
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease
2001-01-01 Gomez-Lira, M.; Mottes, M.; Perusi, C.; Pignatti, P. F.; Rizzuto, N.; Gatti, R.; Salviati, A.
A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5
1994-01-01 Peissel, B.; Rossetti, S.; Renieri, A.; Galli, L.; De Marchi, M.; Battini, G.; Meroni, M.; Sessa, A.; Schiavano, S.; Pignatti, P. F.; Turco, A. E.
A novel intragenic polymorphism within the COL1A1 locus which can be detected by Taq I restriction of amplified genomic DNA
1999-01-01 S., Mirandola; Pignatti, Pierfranco; Mottes, Monica
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome
1995-01-01 Turco, Alberto; S., Rossetti; M. O., Biasi; G., Rizzoni; L., Massella; N. H., Saarinen; A., Renieri; Pignatti, Pierfranco; M., De Marchi
A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene
1997-01-01 C., Perusi; Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family
1995-01-01 Turco, Alberto; S., Rossetti; E., Bresin; S., Corra; L., Gammaro; Maschio, Giuseppe; 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 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 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 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 mild phenotype of incontinentia pigmenti in a male child: DNA confirmation of a somatic mosaicism | 1-gen-2001 | S., Rugolotto; T., Bardaro; T., Esposito; F., Soli; Turco, Alberto; Pignatti, Pierfranco; M., D'Urso | |
| A new approach to identify non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals. | 1-gen-2000 | Bombieri, Cristina; S., Giorgi; C., Soukeyna; R., Decid; Belpinati, Francesca; C., Tandoi; N., Pallares Ruiz; C., Lazaro; B. M., Ciminelli; M. C., Romey; T., Casals; F., Pompei; G., Gandini; M., Claustres; X., Estivill; Pignatti, Pierfranco; G., Modiano | |
| A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease | 1-gen-2001 | Gomez-Lira, M.; Mottes, M.; Perusi, C.; Pignatti, P. F.; Rizzuto, N.; Gatti, R.; Salviati, A. | |
| A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5 | 1-gen-1994 | Peissel, B.; Rossetti, S.; Renieri, A.; Galli, L.; De Marchi, M.; Battini, G.; Meroni, M.; Sessa, A.; Schiavano, S.; Pignatti, P. F.; Turco, A. E. | |
| A novel intragenic polymorphism within the COL1A1 locus which can be detected by Taq I restriction of amplified genomic DNA | 1-gen-1999 | S., Mirandola; Pignatti, Pierfranco; Mottes, Monica | |
| A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome | 1-gen-1995 | Turco, Alberto; S., Rossetti; M. O., Biasi; G., Rizzoni; L., Massella; N. H., Saarinen; A., Renieri; Pignatti, Pierfranco; M., De Marchi | |
| A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene | 1-gen-1997 | C., Perusi; Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro | |
| A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family | 1-gen-1995 | Turco, Alberto; S., Rossetti; E., Bresin; S., Corra; L., Gammaro; Maschio, Giuseppe; Pignatti, Pierfranco |