Recommendations for the classification of diseases as CFTR-related disorders
Bombieri, C, Claustres, M, De Boeck, K, Derichs, N, Dodge, J, Girodon, E, Sermet, I, Schwarz, M, Tzetis, M, Wilschanski, M, Bareil, C, Bilton, D, Castellani, C, Cuppens, H, Cutting, G.R, Drevínek, P, Farrell, P, Elborn, J.S, Jarvi, K, Kerem, B, Kerem, E, Knowles, M, Macek, M, Munck, A, Radojkovic, D, Seia, M, Sheppard, D.N, Southern, K.W, Stuhrmann, M, Tullis, E, Zielenski, J, Pignatti, P.F, Ferec, C
Published in Journal of cystic fibrosis (01.06.2011)
Published in Journal of cystic fibrosis (01.06.2011)
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Conference Proceeding
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
Castellani, C, Cuppens, H, Macek, M, Cassiman, J.J, Kerem, E, Durie, P, Tullis, E, Assael, B.M, Bombieri, C, Brown, A, Casals, T, Claustres, M, Cutting, G.R, Dequeker, E, Dodge, J, Doull, I, Farrell, P, Ferec, C, Girodon, E, Johannesson, M, Kerem, B, Knowles, M, Munck, A, Pignatti, P.F, Radojkovic, D, Rizzotti, P, Schwarz, M, Stuhrmann, M, Tzetis, M, Zielenski, J, Elborn, J.S
Published in Journal of cystic fibrosis (01.05.2008)
Published in Journal of cystic fibrosis (01.05.2008)
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Conference Proceeding
Upregulated Expression of Toll-like Receptor 4 in Peripheral Blood of Ischaemic Stroke Patients Correlates with Cyclooxygenase 2 Expression
Ferronato, S, Lira, M.G, Olivato, S, Scuro, A, Veraldi, G.F, Romanelli, M.G, Patuzzo, C, Malerba, G, Pignatti, P.F, Mazzucco, S
Published in European journal of vascular and endovascular surgery (01.03.2011)
Published in European journal of vascular and endovascular surgery (01.03.2011)
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Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study
Tomaiuolo, R, Sangiuolo, F, Bombieri, C, Bonizzato, A, Cardillo, G, Raia, V, D'Apice, M.R, Bettin, M.D, Pignatti, P.F, Castaldo, G, Novelli, G
Published in Journal of cystic fibrosis (01.09.2008)
Published in Journal of cystic fibrosis (01.09.2008)
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Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema
Ferrarotti, I, Zorzetto, M, Beccaria, M, Gile, L.S, Porta, R, Ambrosino, N, Pignatti, P.F, Cerveri, I, Pozzi, E, Luisetti, M
Published in The European respiratory journal (01.03.2003)
Published in The European respiratory journal (01.03.2003)
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Journal Article
The role of TGFbetal as modifier gene in Italian cystic fibrosis patients
Bettin, M.D, Bombieri, C, Malerba, G, Xumerle, L, Belpinati, F, Castellani, C, Assael, B.M, Pignatti, P.F
Published in Journal of cystic fibrosis (01.06.2008)
Published in Journal of cystic fibrosis (01.06.2008)
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Journal Article
Highly preferential association of NonF508del CF mutations with the M470 allele
Ciminelli, B.M, Bonizzato, A, Bombieri, C, Pompei, F, Gabaldo, M, Ciccacci, C, Begnini, A, Holubova, A, Zorzi, P, Piskackova, T, Macek, M, Castellani, C, Modiano, G, Pignatti, P.F
Published in Journal of cystic fibrosis (01.01.2007)
Published in Journal of cystic fibrosis (01.01.2007)
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EUROPEAN CYSTIC FIBROSIS SOCIETY CONSENSUS ON GENETIC TESTING
Schwarz, M, Castellani, C, Cuppens, H, Macek, M, Cassiman, J.J, Kerem, E, Durie, P, Tullis, E, Assael, B.M, Bombieri, C, Brown, A, Casals, T, Claustres, M, Cutting, G, Dodge, J, Doull, I, Farrell, P, Ferec, C, Girodon, E, Johannesson, M, Kerem, B, Knowles, M, Munck, A, Pignatti, P.F, Radojkovic, D, Rizzotti, P, Stuhrman, M, Tzetis, M, Zielenski, J, Elborn, J.S
Published in Journal of cystic fibrosis (01.07.2008)
Published in Journal of cystic fibrosis (01.07.2008)
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Journal Article
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: Description of four novel mutations
Lira, M. Gomez, Mottes, M., Pignatti, P.F., Medica, I., Uziel, G., Cappa, M., Bertini, E., Rizzuto, N., Salviati, A.
Published in Human mutation (01.09.2000)
Published in Human mutation (01.09.2000)
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Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations
Ciminelli, B M, Pompei, F, Malaspina, P, Hammer, M, Persichetti, F, Pignatti, P F, Palena, A, Anagnou, N, Guanti, G, Jodice, C
Published in Journal of molecular evolution (01.12.1995)
Published in Journal of molecular evolution (01.12.1995)
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Allele Frequencies of Six Highly Polymorphic DNA Loci in the Croatian Population
DRMIĆ, I., SCHANFIELD, M.S., ANDJELINOVIĆ, S., GALAVOTTI, R., GOJANOVIĆ, M.D., TRABETTI, E., MARASOVIĆ, D., PRIMORAC, D., PIGNATTI, P.F.
Published in Human biology (01.10.1998)
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Published in Human biology (01.10.1998)
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High Frequency of Cystic Fibrosis Transmembrane Regulator Mutation L997F in Patients with Recurrent Idiopathic Pancreatitis and in Newborns with Hypertrypsinemia
Gomez Lira, M., Benetazzo, M.G., Marzari, M.G., Bombieri, C., Belpinati, F., Castellani, C., Cavallini, G.C., Mastella, G., Pignatti, P.F.
Published in American journal of human genetics (01.06.2000)
Published in American journal of human genetics (01.06.2000)
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Journal Article
Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosis
Gomez-Lira, M, Moretto, G, Bonamini, D, Benedetti, M.D, Pignatti, P.F, Rizzuto, N, Salviati, A
Published in Journal of neuroimmunology (01.12.2002)
Published in Journal of neuroimmunology (01.12.2002)
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A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals
BOMBIERI, C, GIORGI, S, CASALS, T, POMPEI, F, GANDINI, G, CLAUSTRES, M, ESTIVILL, X, PIGNATTI, P. F, MODIANO, G, CARLES, S, DE CID, R, BELPINATI, F, TANDOI, C, PALLARES-RUIZ, N, LAZARO, C, CIMINELLI, B. M, ROMEY, M.-C
Published in Human genetics (01.02.2000)
Published in Human genetics (01.02.2000)
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A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease
Gomez-Lira, M., Mottes, M., Perusi, C., Pignatti, P.F., Rizzuto, N., Gatti, R., Salviati, A.
Published in Molecular and cellular probes (01.04.2001)
Published in Molecular and cellular probes (01.04.2001)
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A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals
Bombieri, C., Giorgi, S., Carles, S., de Cid, R., Belpinati, F., Tandoi, C., Pallares-Ruiz, N., Lazaro, C., Ciminelli, B.M., Romey, M.-C., Casals, T., Pompei, F., Gandini, G., Claustres, M., Estivill, X., Pignatti, P.F., Modiano, G.
Published in Human genetics (01.02.2000)
Published in Human genetics (01.02.2000)
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Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations
Gasparini, P., Bonizzato, A., Dognini, M., Pignatti, P.F.
Published in Molecular and cellular probes (01.02.1992)
Published in Molecular and cellular probes (01.02.1992)
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