PIGNATTI, Pierfranco

PIGNATTI, Pierfranco  

DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO  

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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 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 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease 1-gen-1995 Gomez, Maria Macarena; C., Perusi; N., Brutti; M. A., Farnetani; M. A., Margollicci; Rizzuto, Nicolo'; Pignatti, Pierfranco; Salviati, Alessandro
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 E., Bresin; S., Rossetti; S., Englisch; S., Corra; Pignatti, Pierfranco; Turco, Alberto
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 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
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