Sfoglia per Autore
The search for South European Cystic Fibrosis mutations: identifiaction of two new mutations, four variants and intronic sequences
1991-01-01 Gasparini, P; Nunes, V; Savoia, A.; Dognini, M; Morral, M; Gaona, A; Bonizzato, A; Chillon, M; Sangiuolo, F; Novelli, G; Dallapiccola, B; Pignatti, Pf; Estivill, X
Different suppression of Ph1 positive hemopoiesis induced by intensive chemotherapy in lymphoid and myeloid blast crisis of CML
1991-01-01 A., Guerrasio; G., Martinelli; Ambrosetti, Achille; M., Falda; F., Paolino; G., Rege Cambrin; C., Rosso; Pignatti, Pierfranco; Gasparini, Paolo; Perona, Giuseppe
A tetranucleotide repeat polymorphism in the cystic fibrosis gene
1991-01-01 Gasparini, Paolo; M., Dognini; Bonizzato, Alberto; Pignatti, Pierfranco; N., Morral; X., Estivill
Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms
1991-01-01 Gasparini, Paolo; P., Mandich; G., Novelli; E., Bellone; F., Sangiuolo; F., De Stefano; L., Potenza; Trabetti, Elisabetta; Marigo, Mario; Pignatti, Pierfranco
Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population
1992-01-01 M., Ravnik Glavac; Gasparini, Paolo; B., Peterlin; M., Strukelj; D., Glavac; N., Canki Klain; Pignatti, Pierfranco; R., Komel
Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease
1992-01-01 Gasparini, Paolo; G., Borgo; G., Mastella; Bonizzato, Alberto; M., Dognini; Pignatti, Pierfranco
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
The parental origin of hydatidiform moles and blighted ova: molecular probing with hypervariable DNA polymorphisms
1993-01-01 Trabetti, Elisabetta; Galavotti, Roberta; L., Zanini; Zardini, Ennio; Zatti, Nicoletta; F., Bernardi; A., Notarangelo; A. I., Croce; Pignatti, Pierfranco; Gasparini, Paolo
Haplotype analysis to determine the position of a mutation among closely linked DNA markers
1993-01-01 Ramsay, M; Williamson, R; Estivill, X; Wainwright, Bj; Ho, M-F; Halford, S; Kere, J; Savilahti, E; DE LA CHAPELLE, A; Schwatz, M; Schwartz, M; Super, M; Farndon, P; Harding, C; Meredith, L; AL-JODOR, L; Ferec, C; Claustres, M; Casals, T; Nunes, V; Gasparini, P; Savoia, A.; Pignatti, Pf; Novelli, G; Gennarelli, M; Dallapiccola, B; Kalaydjieva, L; Scambler, Pj
In vitro amplification of hypervariable DNA regions for the evaluation of chimerism after allogeneic bone marrow transplantation
1993-01-01 G., Martinelli; Trabetti, Elisabetta; A., Zaccaria; P., Farabegoli; M., Buzzi; N., Testoni; E., Calori; G., Bandini; Gasparini, Paolo; Galavotti, Roberta; Ambrosetti, Achille; S., Tura; Pignatti, Pierfranco
Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study
1993-01-01 G., Borgo; Gasparini, Paolo; Bonizzato, Alberto; Cabrini, Giulio; Mastella, Gian Paolo; Pignatti, Pierfranco
Analysis of the complete coding region of the CFTR gene in a cohort of patients from North-Eastern Italy: identification of 90% of the mutations
1995-01-01 Bonizzato, A.; Bisceglia, B.; Marigo, M.; Nicolis, Elena; Bombieri, Cristina; Castellani, C.; Borgo, G.; Zelante, L.; Mastella, G.; Cabrini, Giulio; Gasparini, Paolo; Pignatti, Pierfranco
Confirmation of Kapur-Toriello syndrome in an Italian patient
1999-01-01 Zelante, L; Candela, Ma; Savoia, A.; Gasparini, P
Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)
2004-01-01 Donaudy, F; Snoeckx, R; Pfister, M; Zenner, Hp; Blin, N; DI STAZIO, M; Ferrara, A; Lanzara, C; Ficarella, R; Declau, F; Pusch, Cm; Nurnberg, P; Melchionda, S; Zelante, L; Ballana, E; Estivill, X; VAN CAMP, G; Gasparini, Paolo; Savoia, Anna
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia
2005-01-01 Gangarossa, S; Seri, M; Pecci, A; DI BARI, F; Cusano, R; Balduini, C; Gasparini, Paolo; Savoia, Anna
What is the healing time of Stage II pressure ulcers? Findings from a secondaryanalysis
2015-01-01 Palese, A; Saiani, L; Ilenia, P; Laquintana, D; Stinco, G; Di Giulio, P; Perli, S; Andreatta, Michela; Rosa, F; Chini, P; Soraperra, F; Ventura, I; Suriani, Cinzia; Romani, Silvia; Zancarli, M; Martini, M; Partel, F; Bassetti, S; Kaisermann, Raffaella; Bortolotti, C; Gianordoli, M; Rizzoli, I; Nardelli, R; Pellizzari, E; Valduga, E; Castaman, M; Pordenon, M; Beltrame, Maria Bruna; Bertolo, C; Casasola, E; Del Pin, P; Giolo, S; Marcatti, E; Pecini, D; Rodaro, M; Zanon, C; Stefanon, L; Covre, L; Babbo, C; Martin, I; Roilo, A; Zanutel, M; Sabbadin, S; Boin, L; Caron, A; Martignago, E; Venturin, V; Greggio, A; Frigo, Paolo; Lazzaron, D; Tonietto, A; Zanin, B; Zorzi, Sofia; Zuanon, Annalisa; Salmaso, D; Frison, T; Marin, Ilenia; Buosi, A; Fiorese, E; Gasparin, D; Goat, B; Saccardo, Giacomo; Simonetto, O; Gomiero, Sara; Baccara, N; Ghirardello, Luca; Niolu, M; Silvestri, Sonia; Buffon, Ml; Casson, P; Santantonio, R; Albore, P; Mazzorana, E; Terziariol, L; Bulgarelli, Giorgia; Barani, E; Gasparini, P; Migliori, S; Sasso, Enrico; Marfisi, Rm; Tognoni, G; Sgaroni, G; Noro, Gabriele; Mattiuzzo, M.
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?
2019-01-01 Bottega, R.; Napolitano, L. M. R.; Carbone, A.; Cappelli, E.; Corsolini, F.; Onesti, S.; Savoia, A.; Gasparini, P.; Faletra, F.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| The search for South European Cystic Fibrosis mutations: identifiaction of two new mutations, four variants and intronic sequences | 1-gen-1991 | Gasparini, P; Nunes, V; Savoia, A.; Dognini, M; Morral, M; Gaona, A; Bonizzato, A; Chillon, M; Sangiuolo, F; Novelli, G; Dallapiccola, B; Pignatti, Pf; Estivill, X | |
| Different suppression of Ph1 positive hemopoiesis induced by intensive chemotherapy in lymphoid and myeloid blast crisis of CML | 1-gen-1991 | A., Guerrasio; G., Martinelli; Ambrosetti, Achille; M., Falda; F., Paolino; G., Rege Cambrin; C., Rosso; Pignatti, Pierfranco; Gasparini, Paolo; Perona, Giuseppe | |
| A tetranucleotide repeat polymorphism in the cystic fibrosis gene | 1-gen-1991 | Gasparini, Paolo; M., Dognini; Bonizzato, Alberto; Pignatti, Pierfranco; N., Morral; X., Estivill | |
| Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms | 1-gen-1991 | Gasparini, Paolo; P., Mandich; G., Novelli; E., Bellone; F., Sangiuolo; F., De Stefano; L., Potenza; Trabetti, Elisabetta; Marigo, Mario; Pignatti, Pierfranco | |
| Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population | 1-gen-1992 | M., Ravnik Glavac; Gasparini, Paolo; B., Peterlin; M., Strukelj; D., Glavac; N., Canki Klain; Pignatti, Pierfranco; R., Komel | |
| Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease | 1-gen-1992 | Gasparini, Paolo; G., Borgo; G., Mastella; Bonizzato, Alberto; M., Dognini; Pignatti, Pierfranco | |
| 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 | |
| The parental origin of hydatidiform moles and blighted ova: molecular probing with hypervariable DNA polymorphisms | 1-gen-1993 | Trabetti, Elisabetta; Galavotti, Roberta; L., Zanini; Zardini, Ennio; Zatti, Nicoletta; F., Bernardi; A., Notarangelo; A. I., Croce; Pignatti, Pierfranco; Gasparini, Paolo | |
| Haplotype analysis to determine the position of a mutation among closely linked DNA markers | 1-gen-1993 | Ramsay, M; Williamson, R; Estivill, X; Wainwright, Bj; Ho, M-F; Halford, S; Kere, J; Savilahti, E; DE LA CHAPELLE, A; Schwatz, M; Schwartz, M; Super, M; Farndon, P; Harding, C; Meredith, L; AL-JODOR, L; Ferec, C; Claustres, M; Casals, T; Nunes, V; Gasparini, P; Savoia, A.; Pignatti, Pf; Novelli, G; Gennarelli, M; Dallapiccola, B; Kalaydjieva, L; Scambler, Pj | |
| In vitro amplification of hypervariable DNA regions for the evaluation of chimerism after allogeneic bone marrow transplantation | 1-gen-1993 | G., Martinelli; Trabetti, Elisabetta; A., Zaccaria; P., Farabegoli; M., Buzzi; N., Testoni; E., Calori; G., Bandini; Gasparini, Paolo; Galavotti, Roberta; Ambrosetti, Achille; S., Tura; Pignatti, Pierfranco | |
| Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study | 1-gen-1993 | G., Borgo; Gasparini, Paolo; Bonizzato, Alberto; Cabrini, Giulio; Mastella, Gian Paolo; Pignatti, Pierfranco | |
| Analysis of the complete coding region of the CFTR gene in a cohort of patients from North-Eastern Italy: identification of 90% of the mutations | 1-gen-1995 | Bonizzato, A.; Bisceglia, B.; Marigo, M.; Nicolis, Elena; Bombieri, Cristina; Castellani, C.; Borgo, G.; Zelante, L.; Mastella, G.; Cabrini, Giulio; Gasparini, Paolo; Pignatti, Pierfranco | |
| Confirmation of Kapur-Toriello syndrome in an Italian patient | 1-gen-1999 | Zelante, L; Candela, Ma; Savoia, A.; Gasparini, P | |
| Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4) | 1-gen-2004 | Donaudy, F; Snoeckx, R; Pfister, M; Zenner, Hp; Blin, N; DI STAZIO, M; Ferrara, A; Lanzara, C; Ficarella, R; Declau, F; Pusch, Cm; Nurnberg, P; Melchionda, S; Zelante, L; Ballana, E; Estivill, X; VAN CAMP, G; Gasparini, Paolo; Savoia, Anna | |
| Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia | 1-gen-2005 | Gangarossa, S; Seri, M; Pecci, A; DI BARI, F; Cusano, R; Balduini, C; Gasparini, Paolo; Savoia, Anna | |
| What is the healing time of Stage II pressure ulcers? Findings from a secondaryanalysis | 1-gen-2015 | Palese, A; Saiani, L; Ilenia, P; Laquintana, D; Stinco, G; Di Giulio, P; Perli, S; Andreatta, Michela; Rosa, F; Chini, P; Soraperra, F; Ventura, I; Suriani, Cinzia; Romani, Silvia; Zancarli, M; Martini, M; Partel, F; Bassetti, S; Kaisermann, Raffaella; Bortolotti, C; Gianordoli, M; Rizzoli, I; Nardelli, R; Pellizzari, E; Valduga, E; Castaman, M; Pordenon, M; Beltrame, Maria Bruna; Bertolo, C; Casasola, E; Del Pin, P; Giolo, S; Marcatti, E; Pecini, D; Rodaro, M; Zanon, C; Stefanon, L; Covre, L; Babbo, C; Martin, I; Roilo, A; Zanutel, M; Sabbadin, S; Boin, L; Caron, A; Martignago, E; Venturin, V; Greggio, A; Frigo, Paolo; Lazzaron, D; Tonietto, A; Zanin, B; Zorzi, Sofia; Zuanon, Annalisa; Salmaso, D; Frison, T; Marin, Ilenia; Buosi, A; Fiorese, E; Gasparin, D; Goat, B; Saccardo, Giacomo; Simonetto, O; Gomiero, Sara; Baccara, N; Ghirardello, Luca; Niolu, M; Silvestri, Sonia; Buffon, Ml; Casson, P; Santantonio, R; Albore, P; Mazzorana, E; Terziariol, L; Bulgarelli, Giorgia; Barani, E; Gasparini, P; Migliori, S; Sasso, Enrico; Marfisi, Rm; Tognoni, G; Sgaroni, G; Noro, Gabriele; Mattiuzzo, M. | |
| Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? | 1-gen-2019 | Bottega, R.; Napolitano, L. M. R.; Carbone, A.; Cappelli, E.; Corsolini, F.; Onesti, S.; Savoia, A.; Gasparini, P.; Faletra, F. |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile