Search Results - "Bombieri, C."

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

“…Abstract It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the…”
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Recommendations for the classification of diseases as CFTR-related disorders by 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

“…Abstract Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a consensus definition is lacking. Here, we present a…”
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IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients by Baldan, A., Lo Presti, A.R., Belpinati, F., Castellani, C., Bettin, M.D., Xumerle, L., Pignatti, P.R., Malerba, G., Bombieri, C.

“…Background: Nasal polyposis (NP) is an inflammatory disease of the upper nasal airways frequently present in CF patients. Interferon-Related Developmental…”
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IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients by Baldan, A, Lo Presti, A R, Belpinati, F, Castellani, C, Bettin, M D, Xumerle, L, Pignatti, P R, Malerba, G, Bombieri, C

“…Nasal polyposis (NP) is an inflammatory disease of the upper nasal airways frequently present in CF patients. Interferon-Related Developmental Regulator 1…”
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The Gene-Environment Interactions in Respiratory Diseases (GEIRD) Project by de Marco, R, Accordini, S, Antonicelli, L, Bellia, V, Bettin, M D, Bombieri, C, Bonifazi, F, Bugiani, M, Carosso, A, Casali, L, Cazzoletti, L, Cerveri, I, Corsico, A G, Ferrari, M, Fois, A G, Lo Cascio, V, Marcon, A, Marinoni, A, Olivieri, M, Perbellini, L, Pignatti, P, Pirina, P, Poli, A, Rolla, G, Trabetti, E, Verlato, G, Villani, S, Zanolin, M E

“…The role of genetic and environmental factors, as well as their interaction, in the natural history of asthma, allergic rhinitis and chronic obstructive…”
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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 by 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

“…Abstract Background Mutation epidemiology in each ethnic group is a crucial step of strategies for cystic fibrosis (CF) diagnosis and counselling. To date, the…”
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Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations by POMPEI, Fiorenza, CIMINELLI, Bianca Maria, CLAUSTRES, Mireille, FEREC, Claude, MACEK, Milan, MODIANO, Guido, PIGNATTI, Pier Franco, BOMBIERI, Cristina, CICCACCI, Cinzia, KOUDOVA, Monika, GIORGI, Silvia, BELPINATI, Francesca, BEGNINI, Angela, CERNY, Milos, DES GEORGES, Marie

“…An average of about 1700 CFTR (cystic fibrosis transmembrane conductance regulator) alleles from normal individuals from different European populations were…”
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Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease by BOMBIERI, C, BENETAZZO, M, SACCOMANI, A, BELPINATI, F, GILE, L. S, LUISETTI, M, PIGNATTI, P. F

“…In order to determine the possible role of the cystic fibrosis transmembrane regulator (CFTR) gene in pulmonary diseases not due to cystic fibrosis, a complete…”
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New putative cis-acting regulatory variations in the CFTR gene by Viart, V, Bombieri, C, Lopez, E, René, C, Taulan, M, Claustres, M, Romey-Chatelain, M.C

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

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

“…Abstract Background On the basis of previous findings on random individuals, we hypothesized a preferential association of CF causing mutations with the M…”
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CFTR gene variant IVS8-5T in disseminated bronchiectasis by Pignatti, P F, Bombieri, C, Benetazzo, M, Casartelli, A, Trabetti, E, Gilè, L S, Martinati, L C, Boner, A L, Luisetti, M

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High Frequency of Cystic Fibrosis Transmembrane Regulator Mutation L997F in Patients with Recurrent Idiopathic Pancreatitis and in Newborns with Hypertrypsinemia by 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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α1-Antitrypsin TAQ I polymorphism and α1-antichymotrypsin mutations in patients with obstructive pulmonary disease by Benetazzo, M.G., Gilè, L.S., Bombieri, C., Malerba, G., Massobrio, M., Pignatti, P.F., Luisetti, M.

“…Obstructive pulmonary disease is a multifactorial condition deriving from the interaction of environmental and genetic factors. From biochemical knowledge of…”
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A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals by 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

“…Given q as the global frequency of the alleles causing a disease, any allele with a frequency higher than q minus the cumulative frequency of the previously…”
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EUROPEAN CYSTIC FIBROSIS SOCIETY CONSENSUS ON GENETIC TESTING by 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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Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution by RENDINE, S., CALAFELL, F., CAPPELLO, N., GAGLIARDINI, R., CARAMIA, G., RIGILLO, N., SILVETTI, M., ZANDA, M., MIANO, A., BATTISTINI, F., MARIANELLI, L., TACCETTI, G., DIANA, M. C., ROMANO, L., ROMANO, C., GIUNTA, A., PADOAN, R., PIANAROLI, A., RAIA, V., DE RITIS, G., BATTISTINI, A., GRZINCICH, G., JAPICHINO, L., PARDO, F., ANTONELLI, M., QUATTRUCCI, S., LUCIDI, V., CASTRO, M., SANTINI, B., CASTELLO, M., GUANTI, G., LEONI, G. B., CAO, A., TOFFOLI, C., LUCCI, E., VULLO, C., TORRICELLI, F., SBERNINI, F., ROMEO, G., RONCHETTO, P., SEIA, M., ROSSI, A., FERRARI, M., CREMONESI, L., SALVATORE, F., CASTALDO, G., D'ALCAMO, E., MAGGIO, A., SANGIUOLO, F., DALLAPICCOLA, B., MACERATESI, P., BISCEGLIA, L., GASPARINI, P., CARBONARA, A., BONIZZATO, A., CABRINI, G., BOMBIERI, C., PIGNATTI, P. F., BORGO, G., CASTELLANI, C., VILLANI, A., ARDUINO, C., SALVATORE, D., MASTELLA, G., PIAZZA, A.

“…Earlier analysis of the Italian population showed patterns of genetic differentiation that were interpreted as being the result of population settlements going…”
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Genetics of chronic obstructive pulmonary disease and disseminated bronchiectasis by Luisetti, M, Gilé, L S, Bombieri, C, Benetazzo, M G, Pignatti, P F

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Complete detection of mutations in cystic fibrosis patients of Native American origin by Mercier, B, Raguénès, O, Estivill, X, Morral, N, Kaplan, G C, McClure, M, Grebe, T A, Kessler, D, Pignatti, P F, Marigo, C

“…An increased incidence of cystic fibrosis (CF) has been reported in some populations of Native Americans of the Southwest such as the Pueblo, which is a…”
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Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes by Gasparini, P, Marigo, C, Bisceglia, G, Nicolis, E, Zelante, L, Bombieri, C, Borgo, G, Pignatti, P F, Cabrini, G

“…The frequency of 62 different CFTR mutations in 225 chromosomes from a CF birth cohort, which includes all the affected subjects born in northeast Italy during…”
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