Zobrazeno 1 - 10
of 362
pro vyhledávání: '"Zielenski J"'
Autor:
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., Jr, Munck, A., Radojkovic, D., Seia, M., Sheppard, D.N., Southern, K.W., Stuhrmann, M., Tullis, E., Zielenski, J., Pignatti, P.F., Ferec, C.
Publikováno v:
In Journal of Cystic Fibrosis 2011 10 Supplement 2:S86-S102
Autor:
Castellani, C., Cuppens, H., Macek, M., Jr., 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.
Publikováno v:
In Journal of Cystic Fibrosis 2008 7(3):179-196
Autor:
FRIEDMAN KJ, LING SC, MACEK M. JR, HANDLER AJ, ZHOU Z, PACE RG, MACK DR, COLOMBO JL, VVROV V, SPINA M, SALVATORE F, PHILLIPS MJ, ZIELENSKI J, TSUI LC, DURIE PR, SILVERMAN LM, KNOWLES M.R., CASTALDO, GIUSEPPE
Selezionato per la comunicazione orale.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::510450b94866be3c384ca6a3bafae715
http://hdl.handle.net/11588/182722
http://hdl.handle.net/11588/182722
Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a consensus definition is lacking. Here, we present a proposal for consensus guidelines on cystic fibrosis transmembrane conductance regulator (CFTR)-related di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::ccaf0a129b3e248ef8253d31cb403784
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3111548
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3111548
It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::20037534120904ca907921dc53136e40
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3112832
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3112832
Autor:
Konstan, M.W., Pace, R., Corey, M., Schluchter, M.D., Dorfman, R., Zariwala, M., Knowles, M.R., Dunn, J.M., Yankaskas, J.R., Sandford, A.J., Wright, F.A., Zielenski, J., Xu, A., Durie, P., Fargo, D., Zou, F., Drumm, M.L., Goddard, K., Handler, A., Darrah, R.J.
BACKGROUND: Polymorphisms in genes other than the cystic fibrosis transmembrane conductance regulator (CFTR) gene may modify the severity of pulmonary disease in patients with cystic fibrosis. METHODS: We performed two studies with different patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f65327cd8ea8fd556c418d866a16648
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz.. a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2.3(21 kb), deletes 21,080 bp spanning
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::a2eb34931b3ef03e41c7d846c93df28b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3053081
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3053081
published_or_final_version
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______961::f84a3783c2ec8a80177fc057889c2939
http://hdl.handle.net/10722/42303
http://hdl.handle.net/10722/42303
Autor:
Schwartz, RH, Tsui, LC, Morgan, K, Klinger, KW, Richards, B, Anacleto, AI, Paradis, AJ, Markiewicz, D, Fujiwara, TM, Zielenski, J
The Hutterite population is a genetic isolate with an increased incidence of cystic fibrosis (CF). Previously we identified three CF haplotypes defined by polymorphisms flanking the CF transmembrane conductance regulator (CFTR) gene. ΔF508 was prese
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______961::a649b4e511d10b4c7c6f1690ea9ca432
http://hdl.handle.net/10722/42300
http://hdl.handle.net/10722/42300