Results 21 to 40 of 59
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TypeTitleAuthor(s)YearViews
Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland | Analiza mutacji w genie CFTR u pacjentów z rozpoznana mukowiscydoza w Polsce.
Journal:
Medycyna wieku rozwojowego
Publisher:
Instytut Matki i Dziecka.
Aznarez, I; Bal, J; Casals, T; Estivill, X; Moral, N; Sands, D; Nunes, V; SobczyńskaTomaszewska, A; Tsui, LC; Zielenski, J2000417
 
Mutations in the cystic fibrosis transmembrane regulator gene in patients with tropical calcific pancreatitis [8]
Journal:
American Journal of Gastroenterology
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ajg/index.html
Bhatia, E; Durie, P; Zielenski, J; Lam, D; Sikora, SS; Choudhuri, G; Tsui, LC2000136
 
Novel cystic fibrosis mutation (2215insG) two adolescent Taiwanese siblings
Journal:
Journal of the Formosan Medical Association
Publisher:
Scientific Communications International Ltd. The Journal's web site is located at http://www.jfma.org.tw/index.htm
Wu, CL; Shu, SG; Zielenski, J; Chiang, CD; Tsui, LC2000262
 
Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five level mutations (W1098C, 846deIT, P750L, 4160insGGGC and 297-1G→A)
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Orozco, L; Velázquez, R; Zielenski, J; Tsui, LC; Chávez, M; Lezana, JL; Saldana, Y; Hernández, E; Carnevale, A2000300
 
Cystic fibrosis gene mutations and infertile men with primary testicular failure
Journal:
Human Reproduction
Publisher:
Oxford University Press. The Journal's web site is located at http://humrep.oxfordjournals.org/
Mak, V; Zielenski, J; Tsui, LC; Durie, P; Zini, A; Martin, S; Longley, TB; Jarvi, KA2000393
 
Rapid Genetic Screening MethodNorden, B; Zielenski, J; Tsui, L-C; Nielsen, P; Jonsson, M; Dulay, MT; Carlsson, C; Zare, RN2000582
 
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
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Dörk, T; Macek Jr, M; Mekus, F; Tümmler, B; Tzountzouris, J; Casals, T; Krebsová, A; Koudová, M; Sakmaryová, I; Macek Sr, M; Vávrová, V; Zemková, D; Ginter, E; Petrova, NV; Ivaschenko, T; Baranov, V; Witt, M; Pogorzelski, A; Bal, J; Zékanowsky, C; Wagner, K; Stuhrmann, M; Bauer, I; Seydewitz, HH; Neumann, T; Jakubiczka, S; Kraus, C; Thamm, B; Nechiporenko, M; Livshits, L; Mosse, N; Tsukerman, G; Kadási, L; RavnikGlavač, M; Glavač, D; Komel, R; Vouk, K; Kučinskas, V; Krumina, A; Teder, M; Kocheva, S; Efremov, GD; Onay, T; Kirdar, B; Malone, G; Schwarz, M; Zhou, Z; Friedman, KJ; Carles, S; Claustres, M; Bozon, D; Verlingue, C; Férec, C; Tzetis, M; Kanavakis, E; Cuppens, H; Bombieri, C; Pignatti, PF; Sangiuolo, F; Jordanova, A; Kusic, J; Radojkovič, D; Sertić, J; Richter, D; Rukavina, AS; Bjorck, E; Strandvik, B; Cardoso, H; Montgomery, M; Nakielna, B; Hughes, D; Estivill, X; Aznarez, I; Tullis, E; Tsui, LC; Zielenski, J2000590
 
An embryoprotective role for glucose-6-phosphate dehydrogenase in developmental oxidative stress and chemical teratogenesis
Journal:
FASEB Journal
Publisher:
Federation of American Societies for Experimental Biology. The Journal's web site is located at http://www.fasebj.org/
Nicol, CJ; Zielenski, J; Tsui, LC; Wells, PG2000367
 
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 [3]
Journal:
Nature Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Zielenski, J; Corey, M; Rozmahel, R; Markiewicz, D; Aznarez, I; Casals, T; Larriba, S; Mercier, B; Cutting, GR; Krebsova, A; Macek M, Jr; Langfelder Schwind, E; Marshall, BC; DecelieGermana, J; Claustres, M; Palacio, A; Bal, J; Nowakowska, A; Ferec, C; Estivill, X; Durie, P; Tsui, LC1999208
 
CFTR gene mutations and the pancreatic phenotype
Proceedings/Conference:
Pediatric Pulmonology
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/39249
Durie, PR; Ahmed, N; Corey, M; Zielenski, J; Ellis, L; Tullis, E; Tsui, LC1999152
 
Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia
Journal:
Journal of the American Medical Association
Publisher:
American Medical Association. The Journal's web site is located at http://jama.ama-assn.org/index.dtl
Mak, M; Zielenski, J; Tsui, LC; Durie, P; Zini, A; Martin, S; Longley, TB; Jarvi, KA1999455
 
Genotype/phenotype in relation to lung disease
Proceedings/Conference:
Pediatric Pulmonology
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/39249
Durie, PR; Tullis, E; Corey, M; Ellis, L; Martin, S; Jarvi, K; Zielenski, J; Gilljam, M; Tsui, LC1998129
 
Uncertainty in the diagnosis of cystic fibrosis: Possible role of in vivo nasal potential difference measurements
Journal:
Journal of Pediatrics
Publisher:
Mosby, Inc. The Journal's web site is located at http://www.elsevier.com/locate/jpeds
Wilson, DC; Ellis, L; Zielenski, J; Corey, M; Ip, WF; Tsui, LC; Tullis, E; Knowles, MR; Durie, PR1998336
 
Analysis of the CFTR gene in Turkish cystic fibrosis patients: Identification of three novel mutations (3172delAC, P1013L and M1028I)
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Onay, T; Topaloglu, O; Zielenski, J; Gokgoz, N; Kayserili, H; Camcioglu, Y; Cokugras, H; Akcakaya, N; Apak, M; Tsui, LC; Kirdar, B1998498
 
Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: Role of cystic fibrosis transmembrane conductance regulator gene mutations
Journal:
Fertility and Sterility
Publisher:
Elsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/fertnstert
Jarvi, K; McCallum, S; Zielenski, J; Durie, P; Tullis, E; Wilchanski, M; Margolis, M; Asch, M; Ginzburg, B; Martin, S; Buckspan, MB; Tsui, LC1998276
 
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD)
Journal:
Human Mutation
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Zielenski, J; Patrizio, P; Markiewicz, D; Asch, RH; Tsui, LC199796
 
Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients
Journal:
Human Mutation
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Orozco, L; Zielenski, J; Markiewicz, D; Villarreal, T; Tsui, LC; Lezana, JL; Del Angel, RM1997148
 
Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens
Journal:
Human Molecular Genetics
Publisher:
Oxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Mak, V; Jarvi, KA; Zielenski, J; Durie, P; Tsui, LC1997352
 
Screening for genetic mutations [1]
Journal:
Nature
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/nature
Carlsson, C; Jonsson, M; Norden, B; Dulay, MT; Zare, RN; Noolandi, J; Nielsen, PE; Tsui, LC; Zielenski, J1996126
 
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers
Journal:
Human Mutation
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Morral, N; Dörk, T; Llevadot, R; Dziadek, V; Mercier, B; Férec, C; Costes, B; Girodon, E; Zielenski, J; Tsui, LC; Tümmler, B; Estivill, X1996472
 
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