Results 1 to 20 of 24
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TypeTitleAuthor(s)YearViews
CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.
Journal:
Methods in molecular medicine
Publisher:
Humana Press, Inc. The Journal's web site is located at http://humanapress.com
Zielenski, J; Aznarez, I; Onay, T; Tzounzouris, J; Markiewicz, D; Tsui, LC2002185
 
Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: Identification of 12 novel mutations
Journal:
Genetic Testing
Publisher:
Mary Ann Liebert, Inc Publishers. The Journal's web site is located at http://www.liebertpub.com/gte
Strandvik, B; Zielenski, J; Björck, E; Fallström, M; Gronowitz, E; Thountzouris, J; Lindblad, A; Markiewicz, D; Wahlström, J; Tsui, LC2001365
 
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, LC1999254
 
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, RM1997169
 
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, LC1997115
 
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
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; Markiewicz, D; Chen, HS; Schappert, K; Seller, A; Durie, P; Corey, M; Tsui, LC1995372
 
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 family
Journal:
Clinical Genetics
Publisher:
Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Zielenski, J; Markiewicz, D; Lin, SP; Huang, FY; YangFeng, TL; Tsui, LC1995303
 
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations
Journal:
Journal of Pediatrics
Publisher:
Mosby, Inc. The Journal's web site is located at http://www.elsevier.com/locate/jpeds
Wilschanski, M; Zielenski, J; Markiewicz, D; Tsui, LC; Corey, M; Levison, H; Durie, PR1995339
 
CFTR gene variant for patients with congenital absence of vas deferens [3]
Journal:
American Journal of Human Genetics
Publisher:
Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Zielenski, J; Patrizio, P; Corey, M; Handelin, B; Markiewicz, D; Asch, R; Tsui, LC1995245
 
Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia [21]
Journal:
Lancet
Publisher:
The Lancet Publishing Group. The Journal's web site is located at http://www.elsevier.com/locate/lancet
Jarvi, K; Zielenski, J; Wilschanski, M; Durie, P; Buckspan, M; Tullis, E; Markiewicz, D; Tsui, LC1995145
 
Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G → T and 711 + 1G → T mutations
Journal:
Human Molecular Genetics
Publisher:
Oxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Zielenski, J; Bozon, D; Markiewicz, D; Aubin, G; Simard, F; Rommens, JM; Tsui, LC1993391
 
Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population
Journal:
American Journal of Human Genetics
Publisher:
Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Zielenski, J; Fujiwara, TM; Markiewicz, D; Paradis, AJ; Anacleto, AI; Richards, B; Schwartz, RH; Klinger, KW; Tsui, LC; Morgan, K1993370
 
Genetic determination of exocrine pancreatic function in cystic fibrosis
Journal:
American Journal of Human Genetics
Publisher:
Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Kristidis, P; Bozon, D; Corey, M; Markiewicz, D; Rommens, J; Tsui, LC; Durie, P1992288
 
Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels
Journal:
New England Journal of Medicine
Publisher:
Massachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/
Strong, 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, FS1991309
 
Molecular genetics of cystic fibrosis
Proceedings/Conference:
Advances in Experimental Medicine and Biology
Publisher:
Plenum Press.
Tsui, LC; Rommens, J; Kerem, B; Rozmahel, R; Zielenski, J; Kennedy, D; Markiewicz, D; Plavsic, N; Chou, JL; Bozon, D; Dobbs, M1991238
 
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Journal:
Genomics
Publisher:
Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Zielenski, J; Bozon, D; Kerem, BS; Markiewicz, D; Durie, P; Rommens, JM; Tsui, LC1991395
 
A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Journal:
American Journal of Human Genetics
Publisher:
Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Zielenski, J; Markiewicz, D; Rininsland, F; Rommens, J; Tsui, LC1991376
 
The relation between genotype and phenotype in cystic fibrosis - Analysis of the most common mutation (ΔF 508)
Journal:
New England Journal of Medicine
Publisher:
Massachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/
Kerem, E; Corey, M; Kerem, BS; Rommens, J; Markiewicz, D; Levison, H; Tsui, LC; Durie, P1990471
 
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene
Journal:
Proceedings of the National Academy of Sciences of the United States of America
Publisher:
National Academy of Sciences. The Journal's web site is located at http://www.pnas.org
Kerem, B; Zielenski, J; Markiewicz, D; Bozon, D; Gazit, E; Yahav, J; Kennedy, D; Riordan, JR; Collins, FS; Rommens, JM; Tsui, LC1990405
 
Identification of the cystic fibrosis gene: Genetic analysis
Journal:
Science
Publisher:
American Association for the Advancement of Science. The Journal's web site is located at http://sciencemag.org
Kerem, BS; Rommens, JM; Buchanan, JA; Markiewicz, D; Cox, TK; Chakravarti, A; Buchwald, M; Tsui, LC1989404
 
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