Results 1 to 20 of 24
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CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.Zielenski, J; Aznarez, I; Onay, T; Tzounzouris, J; Markiewicz, D; Tsui, LC2002114
Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: Identification of 12 novel mutationsStrandvik, B; Zielenski, J; Björck, E; Fallström, M; Gronowitz, E; Thountzouris, J; Lindblad, A; Markiewicz, D; Wahlström, J; Tsui, LC2001286
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 [3]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, LC1999153
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD)Zielenski, J; Patrizio, P; Markiewicz, D; Asch, RH; Tsui, LC199762
Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patientsOrozco, L; Zielenski, J; Markiewicz, D; Villarreal, T; Tsui, LC; Lezana, JL; Del Angel, RM199797
Skipping of exon 12 as a consequence of a point mutation (1898+5G→T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese familyZielenski, J; Markiewicz, D; Lin, SP; Huang, FY; YangFeng, TL; Tsui, LC1995213
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutationsWilschanski, M; Zielenski, J; Markiewicz, D; Tsui, LC; Corey, M; Levison, H; Durie, PR1995247
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) geneZielenski, J; Markiewicz, D; Chen, HS; Schappert, K; Seller, A; Durie, P; Corey, M; Tsui, LC1995286
Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia [21]Jarvi, K; Zielenski, J; Wilschanski, M; Durie, P; Buckspan, M; Tullis, E; Markiewicz, D; Tsui, LC199595
CFTR gene variant for patients with congenital absence of vas deferens [3]Zielenski, J; Patrizio, P; Corey, M; Handelin, B; Markiewicz, D; Asch, R; Tsui, LC1995207
Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G → T and 711 + 1G → T mutationsZielenski, J; Bozon, D; Markiewicz, D; Aubin, G; Simard, F; Rommens, JM; Tsui, LC1993303
Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite populationZielenski, J; Fujiwara, TM; Markiewicz, D; Paradis, AJ; Anacleto, AI; Richards, B; Schwartz, RH; Klinger, KW; Tsui, LC; Morgan, K1993282
Genetic determination of exocrine pancreatic function in cystic fibrosisKristidis, P; Bozon, D; Corey, M; Markiewicz, D; Rommens, J; Tsui, LC; Durie, P1992249
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) geneZielenski, J; Bozon, D; Kerem, BS; Markiewicz, D; Durie, P; Rommens, JM; Tsui, LC1991324
Molecular genetics of cystic fibrosisTsui, LC; Rommens, J; Kerem, B; Rozmahel, R; Zielenski, J; Kennedy, D; Markiewicz, D; Plavsic, N; Chou, JL; Bozon, D; Dobbs, M1991150
Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levelsStrong, TV; Smit, LS; Turpin, SV; Cole, JL; Hon, CT; Markiewicz, D; Petty, TL; Craig, MW; Rosenow III, EC; Tsui, LC; Iannuzzi, MC; Knowles, MR; Collins, FS1991252
A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) geneZielenski, J; Markiewicz, D; Rininsland, F; Rommens, J; Tsui, LC1991301
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis geneKerem, B; Zielenski, J; Markiewicz, D; Bozon, D; Gazit, E; Yahav, J; Kennedy, D; Riordan, JR; Collins, FS; Rommens, JM; Tsui, LC1990319
The relation between genotype and phenotype in cystic fibrosis - Analysis of the most common mutation (ΔF 508)Kerem, E; Corey, M; Kerem, BS; Rommens, J; Markiewicz, D; Levison, H; Tsui, LC; Durie, P1990382
Identification of the cystic fibrosis gene: Genetic analysisKerem, BS; Rommens, JM; Buchanan, JA; Markiewicz, D; Cox, TK; Chakravarti, A; Buchwald, M; Tsui, LC1989312
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