Zobrazeno 1 - 10 of 215 pro vyhledávání: '"J. Zielenski"'
1
The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants
Autor: PR Durie, M Solomon, L. C. Tsui, Meir Mei-Zahav, Corey M, E Tullis, J. Zielenski
Publikováno v: Archives of Disease in Childhood. 90:675-679
Background: Cystic fibrosis (CF) is considered to be rare among individuals from the Indian subcontinent. Furthermore, affected individuals are reported to experience a more severe clinical course. Aims: It was hypothesised that CF is under diagnosed
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1106f20dcbdf7a1b8bc8faab639fdef3
https://doi.org/10.1136/adc.2003.042614
Zobrazit plný text záznamu
2
Sessions 7.1 to 11.1
Autor: L. C. Tsui, J. Zielenski, L Ellis, N. Ahmed, M Corey, PR Durie, Elizabeth Tullis
Publikováno v: Pediatric Pulmonology. 28:114-128
13th Annual North American Cystic Fibrosis Conference, Seattle, Washington, USA, 7-10 Oct 1999.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6d5c42f1e3271569c29c12987d825554
https://doi.org/10.1002/(sici)1099-0496(199909)28:19+<114::aid-ppul5>3.0.co
Zobrazit plný text záznamu
5
A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studies
Autor: J. Zielenski, B. R. Akerman, Michael M. Kaback, George H. Thomas, Roy A. Gravel, Joyce Lim-Steele, Elizabeth M. Prence, Barbara Triggs-Raine, Marvin R. Natowicz, E. H. Mules, Joe T.R. Clarke
Publikováno v: Human Mutation. 1:303-309
Tay-Sachs disease (TSD) is an autosomal recessive genetic disorder resulting from mutation of the HEXA gene encoding the α-subunit of the lysosomal enzyme, β-N-acetylhexosaminidase A (Hex A). We have discovered that a Tay-Sachs mutation, IVS-9 + 1
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8009293a2cbd3fc6502fd7dc203d54b
https://doi.org/10.1002/humu.1380010407
Zobrazit plný text záznamu
6
Complete screening of the CFTR gene in Argentine cystic fibrosis patients
Autor: A, Visich, J, Zielenski, C, Castaños, G, Diez, M, Grenoville, E, Segal, C, Barreiro, L-C, Tsui, L, Chertkoff
Publikováno v: Clinical genetics. 61(3)
In order to establish the nature and the distribution of mutations causing cystic fibrosis (CF) in 220 unrelated Argentine families, the present authors conducted an extensive molecular analysis of the CF transmembrane regulator (CFTR) gene. First, a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3d2036ce6b2607fc6ed4e5ed9af8e0af
https://pubmed.ncbi.nlm.nih.gov/12000363
Zobrazit plný text záznamu
7
Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings
Autor: C L, Wu, S G, Shu, J, Zielenski, C D, Chiang, L C, Tsui
Publikováno v: Journal of the Formosan Medical Association = Taiwan yi zhi. 99(7)
Cystic fibrosis (CF) is an autosomal recessive disorder that is rarely found in Asians. Only four cases of CF from four different families have been reported in Taiwan. We report two cases of CF involving two teenage siblings. Both presented with rep
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b07c65f58312ea3848efe36aa9ca56be
https://pubmed.ncbi.nlm.nih.gov/10925568
Zobrazit plný text záznamu
8
Characterization of a novel 21-kb deletion, CFTRdele2, 3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
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
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje