BOMBIERI, Cristina

BOMBIERI, Cristina  

DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO  

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A large-scale study of the random variability of a coding sequence: a study on the CFTR gene 1-gen-2005 Modiano, G.; Bombieri, Cristina; Pignatti, Pierfranco; Belpinati, Francesca; Giorgi, S.; Des Georges, M.; Scotet, V.; Pompei, F.; Ciccacci, C.; Guittard, C.; Audrezet, M. P.; Begnini, Angela; Toepfer, M.; Macek, M. J. R.; Ferec, C.; Claustres, M.; Pignatti, P. F.
A new approach to identify non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals. 1-gen-2000 Bombieri, Cristina; S., Giorgi; C., Soukeyna; R., Decid; Belpinati, Francesca; C., Tandoi; N., Pallares Ruiz; C., Lazaro; B. M., Ciminelli; M. C., Romey; T., Casals; F., Pompei; G., Gandini; M., Claustres; X., Estivill; Pignatti, Pierfranco; G., Modiano
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11. 1-gen-1998 Stuppia, L.; Gatta, V.; Calabrese, G.; Franchi, P. G.; Morizio, E.; Bombieri, C.; Mingarelli, R.; Sforza, V.; Frajese, G.; Tenaglia, R.; Palka, G.
Advanced cellular models for rare disease study: exploring neural, muscle and skeletal organoids 1-gen-2024 Bombieri, Cristina; Corsi, Andrea; Trabetti, Elisabetta; Ruggiero, Alessandra; Marchetto, Giulia; Vattemi, Gaetano; Valenti, Maria Teresa; Zipeto, Donato; Romanelli, Maria Grazia
An Interleukin 13 polymorphism is associated with symptom severity in adult subjects with ever asthma 1-gen-2016 Accordini, S; Calciano, L; Bombieri, C; Malerba, G; Belpinati, F; LO PRESTI, Anna Rita; Baldan, A; Ferrari, M; Perbellini, L; de Marco, R
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
Anthropological features of the CFTR gene: Its variability in an African population 1-gen-2011 Pignatti, Pierfranco; Bombieri, Cristina; Ciccacci, C; Belpinati, Francesca; Pompei, F; Maselli, R; Simporé, J; Pignatti, Pf; Modiano, G.
Aspetti genetici delle broncopneumopatie croniche ostruttive e delle bronchiettasie diffuse (Genetics of chronic obstructive pulmonary disease and disseminated bronchiectasis). 1-gen-1997 Luisetti, M.; Bombieri, Cristina; Benetazzo, M. G.; Gile', L. S.; Barbano, L.; Massobrio, M.; Vajana, E.; Saccomani, A.; Pignatti, Pierfranco
Association between candidate gene polymorphisms and total IgE in adult subjects with asthma: preliminary results from the GEIRD study 1-gen-2022 Lando, V; Calciano, L; Malerba, G; Bombieri, C; Ferrari, M; Murgia, N; Nicolis, M; Olivieri, M; Accordini, S
Association of candidate genes with FeNO in asthma: preliminary results from the Gene Environment Interactions in Respiratory Diseases (GEIRD) study 1-gen-2020 Accordini, Simone; Lando, Valentina; Calciano, Lucia; Bombieri, Cristina; Malerba, Giovanni; Verlato, Giuseppe; Olivieri, Mario
CFTR gene variant IVS8-5T in Disseminated Bronchiectasis. 1-gen-1996 Pignatti, Pierfranco; Bombieri, Cristina; M., Benetazzo; A., Casartelli; Trabetti, Elisabetta; L. S., Gile; L. C., Martinati; Boner, Attilio; M., Luisetti
Characterization of a novel 21-kb deletion, CFTRdele2,3 (21kb), in the CFTR gene: a cystic fibrosis mutation of a Slavic origin common in Central and East Europe. 1-gen-2000 Dork, T.; Macek, M.; Mekus, F.; Tummler, B.; Tzountzouris, J.; Casals, T.; Krebsova, A.; Koudova, M.; Sakmaryova, I.; Vavrova, V.; Zemkova, D.; Ginter, E.; Petrova, N. V.; Ivaschenko, T.; Baranov, V.; Witt, M.; Pogorzelski, A.; Bal, J.; Zekanowsky, C.; Wagner, K.; Stuhrmann, M.; Bauer, I.; Seydewitz, H. H.; Neumann, T.; Jakubiczka, S.; Kraus, C.; Thamm, B.; Nechiporenko, M.; Livshits, L.; Mosse, N.; Tsukerman, G.; Kadasi, L.; Ravnik-Glavac, M.; Glavac, D.; Komel, R.; Vouk, K.; Kucinskas, V.; Krumina, A.; Teder, M.; Kocheva, S.; Efremov, G. D.; Onay, T.; Kirdar, B.; Malone, G.; Schwarz, M.; Zhou, Z.; Friedman, K. J.; Carles, S.; Claustres, M.; Bozon, D.; Verlingue, C.; Ferec, C.; Tzetis, M.; Kanavakis, E.; Cuppens, H.; Bombieri, C.; Pignatti, P. F.; Sangiuolo, F.; Jordanova, A.; Kusic, J.; Radojkovic, D.; Sertic, J.; Richter, D.; Rukavina, A. S.; Bjorck, E.; Strandvik, B.; Cardoso, H.; Montgomery, M.; Nakielna, B.; Hughes, D.; Estivill, X.; Aznarez, I.; Tullis, E.; Tsui, L. -C.; Zielenski, J.
Cistic Fibrosis mutation testing in Italy. 1-gen-2001 Bombieri, C.; Pignatti, P. F.
Comment on “CFTR gene mutations in sarcoidosis”. 1-gen-2003 Bombieri, Cristina; Belpinati, Francesca; Pignatti, Pierfranco; Luisetti, M.
Complement Receptor 1 gene polymorphisms in sarcoidosis. 1-gen-2002 Zorzetto, M.; Bombieri, Cristina; Ferrarotti, I.; Medaglia, S.; Agostini, C.; Tinelli, C.; Malerba, Giovanni; Carrabino, N.; Beretta, A.; Casali, L.; Pozzi, E.; Pignatti, Pierfranco; Semenzato, G.; Cuccia, M. C.; Luisetti, M.
Complete detection of mutations in cystic fibrosis patients of Native American origin. 1-gen-1994 Mercier, B.; Raguénès, O.; Estivill, X.; Morral, N.; Kaplan, G. C.; Mcclure, M.; Grebe, T. A.; Kessler, D.; Pignatti, Pierfranco; Marigo, C.; Bombieri, Cristina; Audrézet, M. P.; Verlingue, C.; Férec, C.
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. 1-gen-1998 Bombieri, C.; Benetazzo, M.; Saccomani, A.; Belpinati, F.; Gile, L. S.; Luisetti, M.; Pignatti, P. F.
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 1-gen-2008 C., Castellani; H., Cuppens; M., Macek; J. J., Cassiman; E., Kerem; P., Durie; E., Tullis; B. M., Assael; Bombieri, Cristina; A., Brown; T., Casals; M., Claustres; G. R., Cutting; E., Dequeker; J., Dodge; I., Doull; P., Farrell; C., Ferec; E., Girodon; M., Johannesson; B., Kerem; M., Knowles; A., Munck; Pignatti, Pierfranco; D., Radojkovic; P., Rizzotti; M., Schwarz; M., Stuhrmann; M., Tzetis; J., Zielenski; J. S., Elborn
Disrupted Post-Transcriptional Regulation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by a 5´UTR Mutation Is Associated with a CFTR-Related Disease 1-gen-2011 Lukowski, S. W.; Bombieri, Cristina; Trezise, A. E. O.
Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian Study. 1-gen-2008 Tomaiuolo, R; Sangiuolo, F; Bombieri, Cristina; Bonizzato, A; Cardillo, G; Raia, V; D'Apice, Mr; Bettin, Maria Demelza; Pignatti, Pierfranco; Castaldo, G; Novelli, G.