Zobrazeno 1 - 10
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pro vyhledávání: '"delta F508"'
Akademický článek
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Autor:
Campagna, G, Amato, A, Majo, F, Ferrari, G, Quattrucci, S, Padoan, R, Floridia, G, Salvatore, D, Carnovale, V, Puppo Fornaro, G, Taruscio, D, Salvatore, M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3686::38b69b5cc638cf4b15745da7317a1bac
https://hdl.handle.net/11573/1657384
https://hdl.handle.net/11573/1657384
Autor:
Campagna, G., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Padoan, R., Floridia, G., Salvatore, D., Carnovale, V., Puppo Fornaro, G., Angiolillo, A., Badolato, R., Battistini, F., Bernardi, M. A., Bertasi, S., Bignamin, I., Caloiero, M., Cannata, L., Carnicella, A., Castellani, C., Ciciretti, M. A., Cimino, G., Cipolli, M., Cirilli, N., Collura, M., Colombo, C., De Venuto, D., Di Sabatino, M, Donati, V., Fabrizi, B., Ficili, F., Francalanci, M., Giordano, P., Iansa, P., Laezza, C., Leonardi, S., Lucanto, M. C., Lucidi, V., Macchiaroli, A. M., Manca, A., Maschio, M., Mascotto, D., Mencarini, V., Messore, B., Moretti, P., Negri, A., Pantano, S., Palladino, N., Pintani, E., Pisano, G., Pisi, G., Pizzamiglio, G., Pradal, U., Raia, V., Redemagni, A., Ripani, P., Ros, M., Rotolo, N., Rottigni, S., Salvatore, M., Scarlata, A., Serio, L., Spaggiari, C., Taccetti, G., Taruscio, D., Vitullo, P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3981::9268a85ed0620c0fc5d3fba734a939f5
http://hdl.handle.net/11695/111267
http://hdl.handle.net/11695/111267
Publikováno v:
Pediatrics and Neonatology, Vol 49, Iss 6, Pp 240-244 (2008)
Cystic fibrosis (CF) is considered to be a rare disease in Asians. We report two cases of CF in a 5-year-old girl and her newborn brother. They are of mixed parentage: a Taiwanese mother and an Australian father. Methods: A comprehensive mutational a
Externí odkaz:
https://doaj.org/article/79dd66ea83ed48eb93454f565e6bcedb
Publikováno v:
مجله دانشگاه علوم پزشکی گرگان, Vol 10, Iss 3, Pp 38-44 (2008)
Background and Objective: Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations caused by mutation in cystic fibrosis transmembrane conductance regulator (CFTR). The type of mutations and their distributions varies widel
Externí odkaz:
https://doaj.org/article/f5efc1285a87462b8bdfe1e756898ebf
Autor:
Kris De Boeck, J. Stuart Elborn, George M. Solomon, Wilhelmina den Hollander, Noreen Henig, Jerry A. Nick, Nicolas Paquette-Lamontagne, Steven M. Rowe, Florilene Bouisset, David P. Nichols, Marcus A. Mall, John P. Clancy, Nigel Tomkinson, Isabelle Sermet-Gaudelus, James Bolognese
Publikováno v:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
BACKGROUND: Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. In this study we assessed the effect of antisense oligonucleotide eluforsen on CFTR biological activity measured by Nasal Potential Dif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd2b8a52d84efa7e51248796c6c08e4c
https://doi.org/10.1016/j.jcf.2018.10.015
https://doi.org/10.1016/j.jcf.2018.10.015
Autor:
Campagna, G., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Padoan, R., Floridia, G., Salvatore, D., Carnovale, V., Fornaro, G. P., Taruscio, D., Salvatore, M., Angiolillo, A., Baldo, E., Battistini, F., Bernardi, M. A., Bertasi, S., Bignamini, E., Bisogno, A., Braggion, C., Caloiero, M., Cannata, L., Carnicella, A., Cellini, C., Ciciretti, M. A., Cimino, G., Cipolli, M., Cirilli, N., Collura, M., Colombo, C., Sabatino, M. D., Donati, V., Fabrizi, B., Ficili, F., Francalanci, M., Iansa, P., Laezza, C., Leonardi, S., Lucanto, M. C., Lucidi, V., Macchiaroli, A. M., Manca, A., Maschio, M., Mascotto, D., Mencarini, V., Messore, B., Minicucci, L., Moretti, P., Negri, A., Pantano, S., Palladino, N., Pintani, E., Pisano, G., Pisi, G., Pizzamiglio, G., Quattromano, E., Raia, V., Redemagni, A., Ros, M., Rotolo, N., Rottigni, S., Scarlata, A., Spaggiari, C., Taccetti, G., Vassanelli, C., Vitullo, P.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3981::4ff737bb87a77e7c3548197b7f3d9b29
http://hdl.handle.net/11695/102419
http://hdl.handle.net/11695/102419
Autor:
Campagna, Giuseppe, Annalisa, Amato, Fabio, Majo, Gianluca, Ferrari, Quattrucci, Serena, Rita, Padoan, Giovanna, Floridia, Donatello, Salvatore, Vincenzo, Carnovale, Gianna Puppo Fornaro, Domenica, Taruscio, Marco, Salvatore, Gruppo di lavoro RIFC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3686::f8df23896b29a67e3e4cd07b09356420
https://hdl.handle.net/11573/1648144
https://hdl.handle.net/11573/1648144
Autor:
Antonio B. de Miranda, Juan LLerena Junior, Ludma T. Dallalana, Rodrigo S. Moura-Neto, Philip N. Suffys, Wim M. Degrave
Publikováno v:
Memorias do Instituto Oswaldo Cruz, Vol 88, Iss 2, Pp 309-312 (1993)
The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (3
Externí odkaz:
https://doaj.org/article/80530aafbf344cdea004883e036dfd0b
Publikováno v:
Pakistan Journal of Medical Sciences
Objective To determine the clinical presentation, diagnostic investigations and laboratory workup done in admitted children with cystic fibrosis at Aga Khan University Hospital Karachi, Pakistan. Methods This is athree years retrospective study from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::343f54932eac5b76997dc20a088c0a3f
http://europepmc.org/articles/PMC5510102
http://europepmc.org/articles/PMC5510102