Zobrazeno 1 - 10
of 236
pro vyhledávání: '"T, Casals"'
Publikováno v:
Gastroenterología y Hepatología. 28:20-22
Cystic fibrosis is a multiorgan autosomal recessive disease resulting from mutations in a gene located on the long arm of chromosome 7. The disease is usually diagnosed in the first few years of life when it typically presents with severe pulmonary m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2fede533e2ea8a809dd01df90560b37f
https://doi.org/10.1157/13070379
https://doi.org/10.1157/13070379
Autor:
M D, Ramos, D, Trujillano, R, Olivar, F, Sotillo, S, Ossowski, J, Manzanares, J, Costa, S, Gartner, C, Oliva, E, Quintana, M I, Gonzalez, C, Vazquez, X, Estivill, T, Casals
Publikováno v:
Clinical genetics. 86(1)
The term cystic fibrosis (CF)-like disease is used to describe patients with a borderline sweat test and suggestive CF clinical features but without two CFTR(cystic fibrosis transmembrane conductance regulator) mutations. We have performed the extens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7e64eb1c5e7e2c8da3f6e26f56db5c75
https://pubmed.ncbi.nlm.nih.gov/23837941
https://pubmed.ncbi.nlm.nih.gov/23837941
Autor:
L. Osborne, G. Santis, M. Schwarz, K. Klinger, T. Dörk, I. McIntosh, M. Schwartz, V. Nunes, M. Macek, J. Reiss, W. E. Highsmith, R. McMahon, G. Novelli, N. Malik, J. Bürger, M. Anvret, A. Wallace, C. Williams, C. Mathew, R. Rozen, C. Graham, P. Gasparini, J. Bal, J. J. Cassiman, A. Balassopoulou, L. Davidow, S. Raskin, L. Kalaydjieva, B. Kerem, S. Richards, B. Simon-Bouy, M. Super, U. Wulbrand, M. Keston, X. Estivill, V. Vavrova, K. J. Friedman, D. Barton, B. Dallapiccola, M. Stuhrmann, F. Beards, A. J. M. Hill, P. F. Pignatti, H. Cuppens, D. Angelicheva, B. Tümmler, D. J. H. Brock, T. Casals, J. Schmidtke, A. C. Magee, A. Bonizzato, C. De Boeck, A. Kuffardjieva, M. Hodson, R. A. Knight
Publikováno v:
Human Genetics. 89:653-658
The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America in order to estimate its frequency and to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0636d0ccb77e88d8d73c27b2dd64b1c
https://doi.org/10.1007/bf00221957
https://doi.org/10.1007/bf00221957
Publikováno v:
Gastroenterologia y hepatologia. 28(1)
Cystic fibrosis is a multiorgan autosomal recessive disease resulting from mutations in a gene located on the long arm of chromosome 7. The disease is usually diagnosed in the first few years of life when it typically presents with severe pulmonary m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6835c9ff5cff720e494eb65e5b81847a
https://pubmed.ncbi.nlm.nih.gov/15691464
https://pubmed.ncbi.nlm.nih.gov/15691464
Autor:
T, Casals, J, De-Gracia, M, Gallego, J, Dorca, B, Rodríguez-Sanchón, M D, Ramos, J, Giménez, A, Cisteró-Bahima, C, Olveira, X, Estivill
Publikováno v:
Clinical genetics. 65(6)
While all patients with cystic fibrosis (CF) have mutations in both CFTR alleles, often only one CFTR change is detected in patients with other lung disorders. The aim of this study was to investigate whether heterozygosity for CFTR mutations could b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a432a5ea3e83727f80a4aa694ccf1ecd
https://pubmed.ncbi.nlm.nih.gov/15151509
https://pubmed.ncbi.nlm.nih.gov/15151509
Autor:
S, Larriba, L, Bassas, S, Egozcue, J, Giménez, M D, Ramos, O, Briceño, X, Estivill, T, Casals
Publikováno v:
Biology of reproduction. 65(2)
Cystic fibrosis transmembrane regulator (CFTR), multidrug-resistant (MDR)1, and multidrug resistance-associated (MRP) proteins belong to the ATP-binding cassette (ABC) transporter superfamily. A compensatory regulation of MDR1 and CFTR gene expressio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c1d4714fa914a22b6c3b67df1274f61c
https://pubmed.ncbi.nlm.nih.gov/11466205
https://pubmed.ncbi.nlm.nih.gov/11466205
Autor:
T. Dörk, M. Macek Jr, F. Mekus, B. Tümmler, J. Tzountzouris, T. Casals, A. Krebsová, M. Koudová, I. Sakmaryová, M. Macek Sr, V. Vávrová, D. Zemková, E. Ginter, N.V. Petrova, T. Ivaschenko, V. Baranov, M. Witt, A. Pogorzelski, J. Bal, C. Zékanowsky, K. Wagner, M. Stuhrmann, I. Bauer, H.H. Seydewitz, T. Neumann, S. Jakubiczka, C. Kraus, B. Thamm, M. Nechiporenko, L. Livshits, N. Mosse, G. Tsukerman, L. Kadási, M. Ravnik-Glavač, D. Glavač, R. Komel, K. Vouk, V. Kučinskas, A. Krumina, M. Teder, S. Kocheva, G.D. Efremov, T. Onay, B. Kirdar, G. Malone, M. Schwarz, Z. Zhou, K.J. Friedman, S. Carles, M. Claustres, D. Bozon, C. Verlingue, C. Férec, M. Tzetis, E. Kanavakis, H. Cuppens, C. Bombieri, P.F. Pignatti, F. Sangiuolo, A. Jordanova, J. Kusic, D. Radojkovič, J. Sertić, D. Richter, A. Stavljenić Rukavina, E. Bjorck, B. Strandvik, H. Cardoso, M. Montgomery, B. Nakielna, D. Hughes, X. Estivill, I. Aznarez, E. Tullis, L.-C. Tsui, J. Zielenski
Publikováno v:
Scopus-Elsevier
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 spanni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08016ea87f1ed7bb9a372f37e3116267
https://www.bib.irb.hr/233049
https://www.bib.irb.hr/233049
Autor:
X. Estivill, R. Llevadot, J. Gim�nez, V. Nunes, T. Casals, L. Ortigosa, J. P�rez-Frias, J. Dapena, J. Ferrer, J. Pe�a, L. Pe�a, N. Cobos, C. V�zquez
Publikováno v:
Human Genetics. 95
We present the genotype/phenotype correlation analysis for 16 cystic fibrosis (CF) patients who carry mutation R334W. Current age and age of diagnosis was significantly higher in the R334W/any-mutation group (P0.05 and P0.01), compared with the delta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af20d2361604ae450ee3a5a70d2145b1
https://doi.org/10.1007/bf00225203
https://doi.org/10.1007/bf00225203
Autor:
V. Nunes, P. Gasparini, G. Noyelli, A. Gaona, A. Bonizzato, F. Sangiuolo, A. Balassopoulou, F.J. Gim�nez, M. Dognini, M. Ravnik-Glavac, M. Cikuli, V. Mokini, R. Komel, B. Dallapiccola, P.F. Pignatti, D. Loukopoulos, T. Casals, X. Estivill
Publikováno v:
Human Genetics. 87
We have analysed five Southern European populations (Albanian, Greek, Italian, Spanish and Yugoslavian) for 14 cystic fibrosis (CF) mutations. The most frequent mutations, apart from delta F508, were G542X (6.04%), R1162X (3.61%) and N1303K (3.24%).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f5501a6c9bd5bfb227465e12db8922b
https://doi.org/10.1007/bf00201737
https://doi.org/10.1007/bf00201737
Publikováno v:
Medicina clinica. 94(12)
The development of polymerase chain reaction (PCR) which allows the specific amplification of DNA sequences has improved considerably the genetic analysis of hereditary diseases. We present here the application of this new technique to the genetic an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::987a9275b0b3843d5f3dde32d4a4269f
https://pubmed.ncbi.nlm.nih.gov/1973207
https://pubmed.ncbi.nlm.nih.gov/1973207