Sfoglia per Autore
Geni modificatori del fenotipo polmonare in Fibrosi Cistica
2003-01-01 Belpinati, Francesca; Malerba, Giovanni; Xumerle, Luciano; Bombieri, Cristina; Dechecchi, Mariacristina; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco
Association of IL4Ra gene with severity of lung disease in Cystic Fibrosis
2005-01-01 Belpinati, Francesca; Malerba, Giovanni; Xumerle, Luciano; Bombieri, Cristina; Galavotti, Roberta; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco
IL4Ra: un possibile gene modificatore del fenotipo polmonare in Fibrosi Cistica
2005-01-01 Belpinati, Francesca; Malerba, Giovanni; Xumerle, Luciano; Bombieri, Cristina; Galavotti, Roberta; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco
Analisi del gene TGFb1 quale possibile modificatore del fenotipo in fibrosi cistica
2006-01-01 Bettin, Maria Demelza; Bombieri, Cristina; Malerba, Giovanni; Xumerle, Luciano; Belpinati, Francesca; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco
The genetic background of osteoporosis in cystic fibrosis: association analysis with polymorphic markers in four candidate genes
2006-01-01 Castellani, C.; Malerba, G.; Sangalli, A.; Delmarco, A.; Petrelli, E.; Rossini, M.; Assael, B. M.; Mottes, M.
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
2006-01-01 Ferec, C.; Casals, T.; Chuzhanova, N.; MACEK JR, M.; Bienvenu, Tm; Holubova, Am; King, C.; Mcdevitt, T.; Castellani, Carlo; Farrell, P. M.; Sheridan, M.; Pantaleo, S. J.; Loumi, O.; Messaoud, T.; Cuppens, H.; Torricelli, F.; Cutting, G. R.; Williamson, R.; Ramos, M. J.; Pignatti, Pierfranco; Raguenes, O.; Cooper, D. N.; Audrezet, M. P.; Chen, J. M.
Family based association analysis of TGFB1 as modifier gene in Cystic Fibrosis
2007-01-01 Bettin, Maria Demelza; Bombieri, Cristina; Malerba, Giovanni; Xumerle, Luciano; Belpinati, Francesca; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco
Family based association analysis of TGFB1 as modifier gene in Cystic Fibrosis
2007-01-01 Bettin, Maria Demelza; Bombieri, Cristina; Malerba, Giovanni; Xumerle, Luciano; Belpinati, Francesca; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco
Family based association analysis of TGFB1 as modifier gene in Cystic Fibrosis
2007-01-01 Bettin, Maria Demelza; Bombieri, Cristina; Malerba, Giovanni; Xumerle, Luciano; Belpinati, Francesca; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommandations
2009-01-01 Dequeker, E; Stuhrmann, M; Morris, Ma; Casals, T; Castellani, C; Claustres, M; Cuppens, H; des Georges, M; Ferec, C; Macek, M; Pignatti, Pierfranco; Scheffer, H; Schwartz, M; Witt, M; Schwarz, M; Girodon, E.
Cystic Fibrosis: Pre-conception and antenatal tests [Fibrosi cistica: Analisi preconcezionale e prenatale]
2010-01-01 Castellani, Carlo; Seia, M.
Benchmarks for cystic fibrosis carrier screening: a European consensus document.
2010-01-01 Castellani, Carlo; M., Macek; J., Cassiman; A., Duff; J., Massie; L. P., Ten; D., Barton; G., Cutting; B., Dallapiccola; E., Dequeker; E., Girodon; W., Grody; E. W., Highsmith; H., Kääriäinen; S., Kruip; M., Morris; Pignatti, Pierfranco; U., Pypops; M., Schwarz; M., Soller; M., Stuhrman; H., Cuppens
Emerging issues in cystic fibrosis newborn screening.
2010-01-01 Castellani, Carlo; J., Massie
Evaluation of the disease liability of CFTR variants.
2011-01-01 Sosnay, Pr; Castellani, Carlo; Corey, M; Dorfman, R; Zielenski, J; Karchin, R; Penland, Cm; Cutting, Gr
An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests.
2011-01-01 Castellani, Carlo; Perobelli, Sandra; V., Bianchi; M., Seia; Melotti, Paola Maria; L., Zanolla; Assael, Baroukhmaurice; F., Lalatta
Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis.
2011-01-01 Ooi, Cy; Dorfman, R; Cipolli, Marco; Gonska, T; Castellani, Carlo; Keenan, K; Freedman, Sd; Zielenski, J; Berthiaume, Y; Corey, M; Schibli, S; Tullis, E; Durie, Pr
IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients
2015-01-01 Baldan, Alessandro; LO PRESTI, Anna Rita; Belpinati, Francesca; Castellani, Carlo; Bettin, Maria Demelza; Xumerle, Luciano; Pignatti, Pierfranco; Malerba, Giovanni; Bombieri, Cristina
Cystic fibrosis carrier screening effects on birth prevalence and newborn screening
2016-01-01 Castellani, Carlo; Picci, Luigi; Tridello, Gloria; Casati, Elia; Tamanini, Anna; Bartoloni, Lucia; Scarpa, Maurizio; Assael, Baroukh M.
Hemodynamic predictors of long term survival in end stage cystic fibrosis
2016-01-01 Scarsini, Roberto; Prioli, Maria A; Milano, ELENA GIULIA; Castellani, Carlo; Pesarini, Gabriele; Assael, Baroukh M; Vassanelli, Corrado; Ribichini, Flavio Luciano
Safety, tolerability and early signs of efficacy with riociguat for the treatment of adult Phe508del homozygous cystic fibrosis patients: study design and rationale for the Rio-CF study
2017-01-01 Derichs, N.; Taylor-Cousar, J.; Tullis, E.; Davies, J.; Nazareth, D.; Downey, D. G.; Rosenbluth, D.; Fajac, I.; Malfroot, A.; Bakker, M.; Clancy, J. P.; Uluer, A.; Castellani, C.; Sermet-Gaudelus, I.; Ahrens, R. C.; Sutharsan, S.; Welte, T.; Gust, T.; Kaiser, A.; Hoffmann, A.; Ratjen, F.; Rowe, S.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Geni modificatori del fenotipo polmonare in Fibrosi Cistica | 1-gen-2003 | Belpinati, Francesca; Malerba, Giovanni; Xumerle, Luciano; Bombieri, Cristina; Dechecchi, Mariacristina; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco | |
Association of IL4Ra gene with severity of lung disease in Cystic Fibrosis | 1-gen-2005 | Belpinati, Francesca; Malerba, Giovanni; Xumerle, Luciano; Bombieri, Cristina; Galavotti, Roberta; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco | |
IL4Ra: un possibile gene modificatore del fenotipo polmonare in Fibrosi Cistica | 1-gen-2005 | Belpinati, Francesca; Malerba, Giovanni; Xumerle, Luciano; Bombieri, Cristina; Galavotti, Roberta; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco | |
Analisi del gene TGFb1 quale possibile modificatore del fenotipo in fibrosi cistica | 1-gen-2006 | Bettin, Maria Demelza; Bombieri, Cristina; Malerba, Giovanni; Xumerle, Luciano; Belpinati, Francesca; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco | |
The genetic background of osteoporosis in cystic fibrosis: association analysis with polymorphic markers in four candidate genes | 1-gen-2006 | Castellani, C.; Malerba, G.; Sangalli, A.; Delmarco, A.; Petrelli, E.; Rossini, M.; Assael, B. M.; Mottes, M. | |
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms | 1-gen-2006 | Ferec, C.; Casals, T.; Chuzhanova, N.; MACEK JR, M.; Bienvenu, Tm; Holubova, Am; King, C.; Mcdevitt, T.; Castellani, Carlo; Farrell, P. M.; Sheridan, M.; Pantaleo, S. J.; Loumi, O.; Messaoud, T.; Cuppens, H.; Torricelli, F.; Cutting, G. R.; Williamson, R.; Ramos, M. J.; Pignatti, Pierfranco; Raguenes, O.; Cooper, D. N.; Audrezet, M. P.; Chen, J. M. | |
Family based association analysis of TGFB1 as modifier gene in Cystic Fibrosis | 1-gen-2007 | Bettin, Maria Demelza; Bombieri, Cristina; Malerba, Giovanni; Xumerle, Luciano; Belpinati, Francesca; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco | |
Family based association analysis of TGFB1 as modifier gene in Cystic Fibrosis | 1-gen-2007 | Bettin, Maria Demelza; Bombieri, Cristina; Malerba, Giovanni; Xumerle, Luciano; Belpinati, Francesca; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco | |
Family based association analysis of TGFB1 as modifier gene in Cystic Fibrosis | 1-gen-2007 | Bettin, Maria Demelza; Bombieri, Cristina; Malerba, Giovanni; Xumerle, Luciano; Belpinati, Francesca; Castellani, Carlo; Assael, Baroukhmaurice; Pignatti, Pierfranco | |
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommandations | 1-gen-2009 | Dequeker, E; Stuhrmann, M; Morris, Ma; Casals, T; Castellani, C; Claustres, M; Cuppens, H; des Georges, M; Ferec, C; Macek, M; Pignatti, Pierfranco; Scheffer, H; Schwartz, M; Witt, M; Schwarz, M; Girodon, E. | |
Cystic Fibrosis: Pre-conception and antenatal tests [Fibrosi cistica: Analisi preconcezionale e prenatale] | 1-gen-2010 | Castellani, Carlo; Seia, M. | |
Benchmarks for cystic fibrosis carrier screening: a European consensus document. | 1-gen-2010 | Castellani, Carlo; M., Macek; J., Cassiman; A., Duff; J., Massie; L. P., Ten; D., Barton; G., Cutting; B., Dallapiccola; E., Dequeker; E., Girodon; W., Grody; E. W., Highsmith; H., Kääriäinen; S., Kruip; M., Morris; Pignatti, Pierfranco; U., Pypops; M., Schwarz; M., Soller; M., Stuhrman; H., Cuppens | |
Emerging issues in cystic fibrosis newborn screening. | 1-gen-2010 | Castellani, Carlo; J., Massie | |
Evaluation of the disease liability of CFTR variants. | 1-gen-2011 | Sosnay, Pr; Castellani, Carlo; Corey, M; Dorfman, R; Zielenski, J; Karchin, R; Penland, Cm; Cutting, Gr | |
An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests. | 1-gen-2011 | Castellani, Carlo; Perobelli, Sandra; V., Bianchi; M., Seia; Melotti, Paola Maria; L., Zanolla; Assael, Baroukhmaurice; F., Lalatta | |
Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis. | 1-gen-2011 | Ooi, Cy; Dorfman, R; Cipolli, Marco; Gonska, T; Castellani, Carlo; Keenan, K; Freedman, Sd; Zielenski, J; Berthiaume, Y; Corey, M; Schibli, S; Tullis, E; Durie, Pr | |
IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients | 1-gen-2015 | Baldan, Alessandro; LO PRESTI, Anna Rita; Belpinati, Francesca; Castellani, Carlo; Bettin, Maria Demelza; Xumerle, Luciano; Pignatti, Pierfranco; Malerba, Giovanni; Bombieri, Cristina | |
Cystic fibrosis carrier screening effects on birth prevalence and newborn screening | 1-gen-2016 | Castellani, Carlo; Picci, Luigi; Tridello, Gloria; Casati, Elia; Tamanini, Anna; Bartoloni, Lucia; Scarpa, Maurizio; Assael, Baroukh M. | |
Hemodynamic predictors of long term survival in end stage cystic fibrosis | 1-gen-2016 | Scarsini, Roberto; Prioli, Maria A; Milano, ELENA GIULIA; Castellani, Carlo; Pesarini, Gabriele; Assael, Baroukh M; Vassanelli, Corrado; Ribichini, Flavio Luciano | |
Safety, tolerability and early signs of efficacy with riociguat for the treatment of adult Phe508del homozygous cystic fibrosis patients: study design and rationale for the Rio-CF study | 1-gen-2017 | Derichs, N.; Taylor-Cousar, J.; Tullis, E.; Davies, J.; Nazareth, D.; Downey, D. G.; Rosenbluth, D.; Fajac, I.; Malfroot, A.; Bakker, M.; Clancy, J. P.; Uluer, A.; Castellani, C.; Sermet-Gaudelus, I.; Ahrens, R. C.; Sutharsan, S.; Welte, T.; Gust, T.; Kaiser, A.; Hoffmann, A.; Ratjen, F.; Rowe, S. |
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