Recommendations for the classification of diseases as CFTR-related disorders von 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

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice von 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

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Upregulated Expression of Toll-like Receptor 4 in Peripheral Blood of Ischaemic Stroke Patients Correlates with Cyclooxygenase 2 Expression von Ferronato, S, Lira, M.G, Olivato, S, Scuro, A, Veraldi, G.F, Romanelli, M.G, Patuzzo, C, Malerba, G, Pignatti, P.F, Mazzucco, S

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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 von 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

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Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema von Ferrarotti, I, Zorzetto, M, Beccaria, M, Gile, L.S, Porta, R, Ambrosino, N, Pignatti, P.F, Cerveri, I, Pozzi, E, Luisetti, M

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Highly preferential association of NonF508del CF mutations with the M470 allele von 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

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The role of TGFbetal as modifier gene in Italian cystic fibrosis patients von Bettin, M.D, Bombieri, C, Malerba, G, Xumerle, L, Belpinati, F, Castellani, C, Assael, B.M, Pignatti, P.F

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EUROPEAN CYSTIC FIBROSIS SOCIETY CONSENSUS ON GENETIC TESTING von 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

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Detection of mutations in the ALD gene (ABCD1) in seven Italian families: Description of four novel mutations von Lira, M. Gomez, Mottes, M., Pignatti, P.F., Medica, I., Uziel, G., Cappa, M., Bertini, E., Rizzuto, N., Salviati, A.

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Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations von Ciminelli, B M, Pompei, F, Malaspina, P, Hammer, M, Persichetti, F, Pignatti, P F, Palena, A, Anagnou, N, Guanti, G, Jodice, C

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Allele Frequencies of Six Highly Polymorphic DNA Loci in the Croatian Population von DRMIĆ, I., SCHANFIELD, M.S., ANDJELINOVIĆ, S., GALAVOTTI, R., GOJANOVIĆ, M.D., TRABETTI, E., MARASOVIĆ, D., PRIMORAC, D., PIGNATTI, P.F.

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Recommendations for the classification of diseases as CFTR-related disorders von Bombieri, C, Claustres, M, De Boeck, Christiane, Derichs, N, Dodge, J, Girodon, E, Sermet, I, Schwarz, M, Tzetis, M, Wilschanski, M, Bareil, C, Bilton, D, Castellani, C, Cuppens Harry, Harry, 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

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High Frequency of Cystic Fibrosis Transmembrane Regulator Mutation L997F in Patients with Recurrent Idiopathic Pancreatitis and in Newborns with Hypertrypsinemia von Gomez Lira, M., Benetazzo, M.G., Marzari, M.G., Bombieri, C., Belpinati, F., Castellani, C., Cavallini, G.C., Mastella, G., Pignatti, P.F.

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Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosis von Gomez-Lira, M, Moretto, G, Bonamini, D, Benedetti, M.D, Pignatti, P.F, Rizzuto, N, Salviati, A

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A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals von 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

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α1-Antitrypsin TAQ I polymorphism and α1-antichymotrypsin mutations in patients with obstructive pulmonary disease von Benetazzo, M.G., Gilè, L.S., Bombieri, C., Malerba, G., Massobrio, M., Pignatti, P.F., Luisetti, M.

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Cystic Fibrosis Mutations in Heterozygous Newborns with Hypertrypsinemia and Low Sweat Chloride von Castellani, C., Benetazzo, M.G., Bonizzato, A., Pignatti, P.F., Mastella, G.

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A novel intragenic polymorphism within the COL1A1 locus which can be detected byTaqI restriction of amplified genomic DNA von Mirandola, S., Pignatti, P.F., Mottes, M.

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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 von Gomez-Lira, M., Mottes, M., Perusi, C., Pignatti, P.F., Rizzuto, N., Gatti, R., Salviati, A.

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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 muta... von Gasparini, P., Bonizzato, A., Dognini, M., Pignatti, P.F.

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