Mutation Details for c.1521_1523delCTT

cDNA Name c.1521_1523delCTT 
Protein Name p.Phe508del 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name [delta]F508 
Other Details This is the major CF mutation; it accounts for *70% of CF chromosomes in most Caucasian populations. For additional information please see: Rommens et al. Science 245: 1059-1065, 1989; Riordan et al. Science 245: 1066-1073, 1989; Kerem et al. Science 245: 1073-1080, 1989; The Cystic Fibrosis Genetic Analysis Consortium, Am. J. Hum. Genet. 47: 354-359, 1990; and Welsh et al. In Metabolic and Molecular Basis of Inherited Disease (7th Edition), C Scriver, AL Beaudet, WE Sly, D Valle, eds., McGraw-Hill, Chapter 127, pp. 3799-3876, 1995 
Contributors Tsui, LC Collins, FS Riordan, JR et al.   1989-08-24
Institute Hospital for Sick Children, Toronto, Canada; University of Michigan, Ann Arbor, USA 
Phenotype Information CFTR2
Reference Rommens et al., Riordan et al., Kerem et al. 1989 

To check if there are any papers published about this mutation/variant on PubMed, please click here.
Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  •   Rapid screening for delta F508 deletion in cystic fibrosis.   1989 012 2;2(8675):1345-6
  •   Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium.   1990 008;47(2):354-9
  •   Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).   1990 009;85(4):436-45
  •   Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium.   1993 010 28;329(18):1308-13
  • Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR   Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.   1992 011;51(5):951-6
  • Abeliovich D, Quint A, Weinberg N, Verchezon G, Lerer I, Ekstein J, Rubinstein E   Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency.   1996;4(6):338-41
  • Adam EC, Schumacher DU, Schumacher U   Cilia from a cystic fibrosis patient react to the ciliotoxic Pseudomonas aeruginosa II lectin in a similar manner to normal control cilia--a case report.   1997 008;111(8):760-2
  • Agbangla K, Osinovskaia NS, Ivashchenko TE, Baranov VS   [Molecular-genetic analysis of tandem repeats in intron 6B of the CFTR gene in various populations and in cystic fibrosis patients].   1992 011;28(11):145-9
  • Akai S, Okayama H, Shimura S, Tanno Y, Sasaki H, Takishima T   Delta F508 mutation of cystic fibrosis gene is not found in chronic bronchitis with severe obstruction in Japan.   1992 009;146(3):781-3
  • Amosenko FA, Sazonova MA, Kapranov NI, Trubnikova IS, Kalinin VN   [Analysis of various polymorphic markers of the CFTR gene in cystic fibrosis patients and healthy donors from the Moscow region].   1995 004;31(4):532-5
  • Amosenko FA, Trubnikova IS, Zakhar'ev VM, Bannikov VM, Sazonova MA, Petrova NV, Kapranov NI, Kaplinin VN   [TUB9 polymorphism in the CFTR gene of cystic fibrosis patients, carriers, and healthy donors from the Moscow region. SSCP and restriction analyses].   1997 002;33(2):257-61
  • Anderson MP, Rich DP, Gregory RJ, Smith AE, Welsh MJ   Generation of cAMP-activated chloride currents by expression of CFTR.   1991 002 8;251(4994):679-82
  • Annereau JP, Stoven V, Bontems F, Barthe J, Lenoir G, Blanquet S, Lallemand JY   Insight into cystic fibrosis by structural modelling of CFTR first nucleotide binding fold (NBF1).   1997 002;320(2):113-21
  • Annereau JP, Wulbrand U, Vankeerberghen A, Cuppens H, Bontems F, Tummler B, Cassiman JJ, Stoven V   A novel model for the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator.   1997 005 5;407(3):303-8
  • Anvret M, Stolpe L, Dahl N, Eiserman M, Nordenskjold M, Starborg M, Johansson L   Characterization of the frequency of delta F508 mutation and CF haplotypes in Swedish families.   1991 003;39(3):238-9
  • Ao A, Handyside A, Winston RM   Preimplantation genetic diagnosis of cystic fibrosis (delta F508).   1996 003;65(1):7-10
  • Ao A, Ray P, Harper J, Lesko J, Paraschos T, Atkinson G, Soussis I, Taylor D, Handyside A, Hughes M, Winston RM   Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508).   1996 002;16(2):137-42
  • Arispe N, Rojas E, Hartman J, Sorscher EJ, Pollard HB   Intrinsic anion channel activity of the recombinant first nucleotide binding fold domain of the cystic fibrosis transmembrane regulator protein.   1992 003 1;89(5):1539-43
  • Artlich A, Boysen A, Bunge S, Entzian P, Schlaak M, Schwinger E   Common CFTR mutations are not likely to predispose to chronic bronchitis in northern Germany.   1995 002;95(2):226-8
  • Atlas AB, Finegold DN, Becker D, Trucco M, Kurland G   Diabetic ketoacidosis in cystic fibrosis.   1992 012;146(12):1457-8
  • Audrezet MP, Costes B, Ghanem N, Fanen P, Verlingue C, Morin JF, Mercier B, Goossens M, Ferec C   Screening for cystic fibrosis in dried blood spots of newborns.   1993 012;7(6):497-502
  • Audrezet MP, Mercier B, Guillermit H, Quere I, Verlingue C, Rault G, Ferec C   Identification of 12 novel mutations in the CFTR gene.   1993 001;2(1):51-4
  • Audrezet MP, Novelli G, Mercier B, Sangiuolo F, Maceratesi P, Ferec C, Dallapiccola B   Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.   1993 009-010;43(5):295-300
  • Augarten A, Hacham S, Kerem E, Sheva Kerem B, Szeinberg A, Laufer J, Doolman R, Altshuler R, Blau H, Bentur L, et al   The significance of sweat Cl/Na ratio in patients with borderline sweat test.   1995 012;20(6):369-71
  • Augarten A, Katznelson D, Dubenbaum L, Doolman R, Sela BA, Lusky A, Szeinberg A, Kerem BS, Paret G, Gazit E, Sack J, Yahav Y   Serum lipase levels pre and post Lundh meal: evaluation of exocrine pancreatic status in cystic fibrosis.   1998;28(4):226-9
  • Augarten A, Kerem BS, Yahav Y, Noiman S, Rivlin Y, Tal A, Blau H, Ben-Tur L, Szeinberg A, Kerem E, et al   Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation.   1993 007 3;342(8862):25-6
  • Augarten A, Shmilovich H, Doolman R, Aviram M, Akons H, Ben Tur L, Blau H, Kerem E, Rivlin J, Sela BA, Szeinberg A, Yahav Y   Serum lipase levels as a diagnostic marker in cystic fibrosis patients with normal or borderline sweat tests.   2000 010;30(4):320-3
  • Aulehla-Scholz C, Kaiser R, Weber J, Pivetta O, Eigel A, Dworniczak B, Olek K, Horst J   The frequency of the CF delta F508 deletion in CF chromosomes of different ethnic origin.   1990 009;85(4):392-3
  • Avner R, Laufer N, Safran A, Kerem BS, Friedmann A, Mitrani-Rosenbaum S   Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and delta F508 mutations.   1994 009;9(9):1676-80
  • Axton RA, Brock DJ   Use of stable dye-DNA intercalating complexes to detect cystic fibrosis mutations.   1994 006;8(3):245-50
  • Axton RA, Brock DJ   A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations.   1995;5(3):260-2
  • Aygalenq P, Eugene C, Fingerhut A   [Non-alcoholic chronic pancreatitis: should the mutation delta F508 of the CFTR gene be considered as a risk factor]?   1994;18(10):907-8
  • Azcue M, Fried M, Pencharz PB   Use of bioelectrical impedance analysis to measure total body water in patients with cystic fibrosis.   1993 005;16(4):440-5
  • Bal J, Maciejko D, Mazurczak T, Potocka A, Krawczak M, Reiss J   Frequency of the cystic fibrosis mutation delta F508 in Poland.   1991 001;86(3):329
  • Bal J, Rininsland F, Osborne L, Reiss J   Simple non-radioactive detection of the CFTR mutation N1303K by artificial creation of a restriction site.   1992 002;6(1):9-11
  • Balassopoulou A, Loukopoulos D, Kollia P, Devoto M, Adam G, Arvanitakis S, Hadjisevastou H   Cystic fibrosis in Greece: typing with DNA probes and identification of the common molecular defect.   1990 009;85(4):393-4
  • Balnaves ME, Bonacquisto L, Francis I, Glazner J, Forrest S   The impact of newborn screening on cystic fibrosis testing in Victoria, Australia.   1995 007;32(7):537-42
  • Banjar H, Kambouris M, Meyer BF, al-Mehaidib A, Mogarri I   Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia.   1999 003;19(1):69-73
  • Baranov VS, Ivaschenko TE, Gorbunova VN, Livshitz LA, Venozinskis MT, Gembovskaya SA, Kalinin VN, Romanenko OP, Gembitzkaya TE, Orlov AV, et al   Frequency of the F508 deletion in cystic fibrosis patients from the European part of the USSR.   1991 005;87(1):61-4
  • Baranov VS, Ivashchenko TE, Gorbunova VN, Dean M   [The frequency of F508 deletion of the mucoviscidosis gene in patients and in families at high risk in Soviet populations].   1990;313(2):446-8
  • Barker PE   Gene mapping and cystic fibrosis.   1990 001;299(1):69-72
  • Barreto C, Pinto LM, Duarte A, Lavinha J, Ramsay M   A fertile male with cystic fibrosis: molecular genetic analysis.   1991 006;28(6):420-1
  • Bayleran JK, Yan H, Hopper CA, Simpson EM   Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry.   1996 008;98(2):207-9
  • Becq F, Jensen TJ, Chang XB, Savoia A, Rommens JM, Tsui LC, Buchwald M, Riordan JR, Hanrahan JW   Phosphatase inhibitors activate normal and defective CFTR chloride channels.   1994 009 13;91(19):9160-4
  • Bertranpetit J, Calafell F   Genetic and geographical variability in cystic fibrosis: evolutionary considerations.   1996;197:97-114; discussion 114-8
  • Bhaskar KR, Turner BS, Grubman SA, Jefferson DM, LaMont JT   Dysregulation of proteoglycan production by intrahepatic biliary epithelial cells bearing defective (delta-f508) cystic fibrosis transmembrane conductance regulator.   1998 001;27(1):7-14
  • Bhutta ZA, Moattar T, Shah U   Genetic analysis of cystic fibrosis in Pakistan: a preliminary report.   2000 007;50(7):217-9
  • Bianchet MA, Ko YH, Amzel LM, Pedersen PL   Modeling of nucleotide binding domains of ABC transporter proteins based on a F1-ATPase/recA topology: structural model of the nucleotide binding domains of the cystic fibrosis transmembrane conductance regulator (CFTR).   1997 010;29(5):503-24
  • Bick D, Maddalena A, Black SH, Headrick EG, Cummings E, Jones SL, Costakos D, Becker R, Schulman JD   Prenatal screening for delta F508 mutation in population not selected for cystic fibrosis.   1990 011 24;336(8726):1324-5
  • Bienvenu T   [Molecular basis of phenotype heterogeneity in cystic fibrosis].   1997 003-004;55(2):113-21
  • Bienvenu T, Beldjord C, Chelly J, Fonknechten N, Hubert D, Dusser D, Kaplan JC   Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patients.   1996;4(3):127-34
  • Bienvenu T, Beldjord C, Kaplan JC, Hubert D, Dusser D   Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.   1995 011;32(11):919
  • Bienvenu T, Bousquet S, Herbulot C, Cartault F, Kaplan JC, Beldjord C   Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.   1993;2(4):306-8
  • Bienvenu T, Cartault F, Lesure F, Renouil M, Beldjord C, Kaplan JC   A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island.   1996 005-006;46(3):168-71
  • Bijman J, Veeze H, Kansen M, Tilly B, Scholte B, Hoogeveen A, Halley D, Sinaasappel M, de Jonge H   Chloride transport in the cystic fibrosis enterocyte.   1991;290:287-94; discussion 294-6
  • Biwersi J, Verkman AS   Functional CFTR in endosomal compartment of CFTR-expressing fibroblasts and T84 cells.   1994 001;266(1 Pt 1):C149-56
  • Bonduelle M, Lissens W, Malfroot A, Dab I, Liebaers I   The deletion F508 is the major gene mutation in a representative Belgian cystic fibrosis population.   1990 009;85(4):395-6
  • Book WM, Raviele AA, Vincent RN   Transhepatic Vascular Access in Pediatric Cardiology Patients with Occlusion of Traditional Central Venous Sites.   1999 006;11(6):341-344
  • Borgo G, Gasparini P, Bonizzato A, Cabrini G, Mastella G, Pignatti PF   Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study.   1993 012;152(12):1006-11
  • Borgo G, Mastella G, Gasparini P, Zorzanello A, Doro R, Pignatti PF   Pancreatic function and gene deletion F508 in cystic fibrosis.   1990 011;27(11):665-9
  • Borrego S, Casals T, Dapena J, Fernandez E, Gimenez J, Cabeza JC, Sanchez J, Antinolo G   Molecular and clinical analyses of cystic fibrosis in the south of Spain.   1994 010;46(4):287-90
  • Bory C, Chantin C, Bozon D   Capillary electrophoretic analysis of DNA restriction fragments and PCR products for polymorphism and mutation studies in cystic fibrosis and Gaucher's disease.   1995 004;13(4-5):511-4
  • Boteva K, Papageorgiou E, Georgiou C, Angastiniotis M, Middleton LT, Constantinou-Deltas CD   Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.   1994 005;93(5):529-32
  • Bowler IM, Estlin EJ, Littlewood JM   Cystic fibrosis in Asians.   1993 001;68(1):120-2
  • Bowling FG, McGill JJ, Shepherd RW, Danks DM   Screening for cystic fibrosis: use of delta F508 mutation.   1990 004 14;335(8694):925-6
  • Brambati B, Anelli MC, Tului L   Prenatal cystic fibrosis screening in a low-risk population undergoing chorionic villus sampling for fetal karyotyping.   1996 007;50(1):23-7
  • Brandt NJ, Schwartz M, Skovby F   [Screening for carriers of cystic fibrosis. Result of a pilot study among pregnant women].   1994 006 20;156(25):3751-4, 3757
  • Breimer LH, Winder AF, Panayiotidis P, Jay M, Moore A, Jay B   A trinucleotide deletion together with a base duplication event at codon 439 in the human tyrosinase gene identifies a mutational hotspot.   1995 012 15;243(1):35-42
  • Bronstein MN, Davies PS, Hambidge KM, Accurso FJ   Normal energy expenditure in the infant with presymptomatic cystic fibrosis.   1995 001;126(1):28-33
  • Brown CR, Hong-Brown LQ, Biwersi J, Verkman AS, Welch WJ   Chemical chaperones correct the mutant phenotype of the delta F508 cystic fibrosis transmembrane conductance regulator protein.   1996 006;1(2):117-25
  • Brown CR, Hong-Brown LQ, Welch WJ   Strategies for correcting the delta F508 CFTR protein-folding defect.   1997 010;29(5):491-502
  • Brownie J, Paskins L, Little S, Schwarz MJ, Bull JH   Adapting in situ polymerase chain reaction for genotyping of cells in suspension.   1998 010;7(5):241-7
  • Burke W, Aitken ML, Chen SH, Scott CR   Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations.   1992 008;102(2):506-9
  • Byard PJ   The adolescent growth spurt in children with cystic fibrosis.   1994 005-006;21(3):229-40
  • Callahan CW, Person DA   Preimplantation diagnosis of the cystic fibrosis delta F508 mutation: what of the other two embryos?   1995 007 12;274(2):126-7
  • Campbell PW, Parker RA, Roberts BT, Krishnamani MR, Phillips JA   Association of poor clinical status and heavy exposure to tobacco smoke in patients with cystic fibrosis who are homozygous for the F508 deletion.   1992 002;120(2 Pt 1):261-4
  • Campbell PW, Phillips JA   The cystic fibrosis gene and relationships to clinical status.   1992 009;7(3):150-7
  • Campbell PW, Phillips JA, Krishnamani MR, Maness KJ, Hazinski TA   Cystic fibrosis: relationship between clinical status and F508 deletion.   1991 002;118(2):239-41
  • Carey WF, Nelson PV, Raymond S, Morris CP   Cystic fibrosis prenatal diagnosis: confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation.   1990 009;10(9):613-6
  • Carson MR, Winter MC, Travis SM, Welsh MJ   Pyrophosphate stimulates wild-type and mutant cystic fibrosis transmembrane conductance regulator Cl- channels.   1995 009 1;270(35):20466-72
  • Casals T, Bassas L, Ruiz-Romero J, Chillon M, Gimenez J, Ramos MD, Tapia G, Narvaez H, Nunes V, Estivill X   Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.   1995 002;95(2):205-11
  • Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X   Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.   1996 003;16(3):215-22
  • Casals T, Nunes V, Lazaro C, Gimenez FJ, Girbau E, Volpini V, Estivill X   Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.   1991 011;28(11):771-6
  • Casals T, Nunes V, Palacio A, Gimenez J, Gaona A, Ibanez N, Morral N, Estivill X   Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area.   1993 003;91(1):66-70
  • Casals T, Vazquez C, Lazaro C, Girbau E, Gimenez FJ, Estivill X   Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.   1992 002;50(2):404-10
  • Casavola V, Turner RJ, Guay-Broder C, Jacobson KA, Eidelman O, Pollard HB   CPX, a selective A1-adenosine-receptor antagonist, regulates intracellular pH in cystic fibrosis cells.   1995 007;269(1 Pt 1):C226-33
  • Cashman SM, Patino A, Delgado MG, Byrne L, Denham B, De Arce M   The Irish cystic fibrosis database.   1995 012;32(12):972-5
  • Castaldo G, Rippa E, Raia V, Salvatore D, Massa C, de Ritis G, Salvatore F   Clinical features of cystic fibrosis patients with rare genotypes.   1996 001;33(1):73-6
  • Castaldo G, Rippa E, Sebastio G, Raia V, Ercolini P, de Ritis G, Salvatore D, Salvatore F   Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.   1996 006;33(6):475-9
  • Castellani C, Bonizzato A, Cabrini G, Mastella G   Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity.   1997 005;86(5):497-502
  • Castellani C, Bonizzato A, Cazzola GA, Amalfitano G, Mastella G   Burkholderia cepacia and delta F508 homozygosity in cystic fibrosis.   1995 009;73(3):276
  • Castellani C, Bonizzato A, Mastella G   CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.   1997 004;34(4):297-301
  • Ch'ang LY, Tang K, Schell M, Ringelberg C, Matteson KJ, Allman SL, Chen CH   Detection of delta F508 mutation of the cystic fibrosis gene by matrix-assisted laser desorption/ionization mass spectrometry.   1995;9(9):772-4
  • Chakraborty R, Srinivasan MR, Raskin S   Estimation of the incidence of a rare genetic disease through a two-tier mutation survey.   1993 006;52(6):1129-38
  • Champigny G, Imler JL, Puchelle E, Dalemans W, Gribkoff V, Hinnrasky J, Dott K, Barbry P, Pavirani A, Lazdunski M   A change in gating mode leading to increased intrinsic Cl- channel activity compensates for defective processing in a cystic fibrosis mutant corresponding to a mild form of the disease.   1995 006 1;14(11):2417-23
  • Chang XB, Cui L, Hou YX, Jensen TJ, Aleksandrov AA, Mengos A, Riordan JR   Removal of multiple arginine-framed trafficking signals overcomes misprocessing of delta F508 CFTR present in most patients with cystic fibrosis.   1999 007;4(1):137-42
  • Chastre E, Di Gioia Y, Barbry P, Simon-Bouy B, Mornet E, Fanen P, Champigny G, Emami S, Gespach C   Functional insertion of the SV40 large T oncogene in cystic fibrosis intestinal epithelium. Characterization of CFI-3 cells.   1991 011 5;266(31):21239-46
  • Cheadle J, Myring J, al-Jader L, Meredith L   Mutation analysis of 184 cystic fibrosis families in Wales.   1992 009;29(9):642-6
  • Cheadle JP, Goodchild MC, Meredith AL   Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales.   1993 010;2(10):1551-6
  • Chehab FF, Johnson J, Louie E, Goossens M, Kawasaki E, Erlich H   A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin.   1991 002;48(2):223-6
  • Chehab FF, Wall J   Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening.   1992 005;89(2):163-8
  • Chehab FF, Wall J, Kan YW   Amplification and detection of specific DNA sequences with fluorescent PCR primers: application to delta F508 mutation in cystic fibrosis.   1992;216:135-43
  • Cheng SH, Fang SL, Zabner J, Marshall J, Piraino S, Schiavi SC, Jefferson DM, Welsh MJ, Smith AE   Functional activation of the cystic fibrosis trafficking mutant delta F508-CFTR by overexpression.   1995 004;268(4 Pt 1):L615-24
  • Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, White GA, O'Riordan CR, Smith AE   Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.   1990 011 16;63(4):827-34
  • Chertkoff L, Visich A, Bienvenu T, Grenoville M, Segal E, Carniglia L, Kaplan JC, Barreiro C   Spectrum of CFTR mutations in Argentine cystic fibrosis patients.   1997 001;51(1):43-7
  • Chevalier-Porst F, Bonardot AM, Gilly R, Chazalette JP, Mathieu M, Bozon D   Mutation analysis in 600 French cystic fibrosis patients.   1994 007;31(7):541-4
  • Chiaravalloti G, Baracchini A, Rossomando V, Ughi C, Ceccarelli M   [Celiac disease and cystic fibrosis: casual association]?   1995 001-002;47(1-2):23-6
  • Chiba-Falek O, Nissim-Rafinia M, Argaman Z, Genem A, Moran I, Kerem E, Kerem B   Screening of CFTR mutations in an isolated population: identification of carriers and patients.   1998 003-004;6(2):181-4
  • Chillon M, Casals T, Gimenez J, Nunes V, Estivill X   Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).   1994;3(3):223-30
  • Chillon M, Casals T, Gimenez J, Nunes V, Estivill X   A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.   1994 005;31(5):369-70
  • Chillon M, Casals T, Gimenez J, Ramos MD, Palacio A, Morral N, Estivill X, Nunes V   Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.   1994 004;93(4):447-51
  • Chillon M, Dork T, Casals T, Gimenez J, Fonknechten N, Will K, Ramos D, Nunes V, Estivill X   A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.   1995 003;56(3):623-9
  • Chillon M, Nunes V, Casals T, Gimenez FJ, Fernandez E, Benitez J, Estivill X   Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families.   1990 009;85(4):396-7
  • Chinet T   [CFTR protein and molecular mechanisms of pulmonary involvement in cystic fibrosis].   1995;51(3):122-9
  • Chomel JC, Haliassos A, Tesson L, Kaplan JC, Kitzis A   Frequency of the major CF mutation in French CF patients.   1990 009;85(4):397-8
  • Chopra DP, Reddy L, Gupta SK, Wan L, Mathieu PA, Shoemaker RL, Rhim JS   Differentiation of immortalized epithelial cells derived from cystic fibrosis airway submucosal glands.   1994 008;30A(8):539-46
  • Clausen H, Brandt NJ, Schwartz M, Skovby F   Psychological and social impact of carrier screening for cystic fibrosis among pregnant woman--a pilot study.   1996 004;49(4):200-5
  • Claustres M, Desgeorges M, Kjellberg P, Bellet H, Demaille J, Ramsay M   Cystic fibrosis typing with DNA probes and screening for delta F508 deletion in families from southern France.   1990 009;85(4):398-9
  • Claustres M, Desgeorges M, Kjellberg P, Demaille J   Identification of carriers by screening for delta F508 deletion in a multi-generation cystic fibrosis family.   1990;1(3-4):211-7
  • Claustres M, Desgeorges M, Kjellberg P, Tissot C, Demaille J   Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.   1992 012;90(4):464-6
  • Claustres M, Desgeorges M, Moine P, Morral N, Estivill X   CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France.   1996 009;98(3):336-44
  • Claustres M, Gerrard B, Kjellberg P, Desgeorges M, Demaille J, Dean M   Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations.   1992;1(4):310-3
  • Claustres M, Laussel M, Desgeorges M, Giansily M, Culard JF, Razakatsara G, Demaille J   Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France.   1993 008;2(8):1209-13
  • Cochaux P, van Geffel R, Baran D, Poncin J, Vassart G   Prevalence of the delta F508 deletion of the cystic fibrosis gene in Belgian patients.   1990 009;85(4):400
  • Cohen BE, Lee G, Jacobson KA, Kim YC, Huang Z, Sorscher EJ, Pollard HB   8-cyclopentyl-1,3-dipropylxanthine and other xanthines differentially bind to the wild-type and delta F508 first nucleotide binding fold (NBF-1) domains of the cystic fibrosis transmembrane conductance regulator.   1997 005 27;36(21):6455-61
  • Collazo T, Magarino C, Chavez R, Suardiaz B, Gispert S, Gomez M, Rojo M, Heredero L   Frequency of delta-F508 mutation and XV2C/KM19 haplotypes in Cuban cystic fibrosis families.   1995 001-002;45(1):55-7
  • Colledge WH, Abella BS, Southern KW, Ratcliff R, Jiang C, Cheng SH, MacVinish LJ, Anderson JR, Cuthbert AW, Evans MJ   Generation and characterization of a delta F508 cystic fibrosis mouse model.   1995 008;10(4):445-52
  • Colombo C, Apostolo MG, Ferrari M, Seia M, Genoni S, Giunta A, Sereni LP   Analysis of risk factors for the development of liver disease associated with cystic fibrosis.   1994 003;124(3):393-9
  • Constantinou-Deltas CD, Georgiou C, Ioannou P, Angastiniotis M, Aristodemou E   delta F508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus.   1992;1(6):503-5
  • Corey M, Edwards L, Levison H, Knowles M   Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis.   1997 012;131(6):809-14
  • Corsten PG, Blight CE, Riddell DC, Hamilton DC, Cole DE   Molecular diagnosis of cystic fibrosis in Maritime Canada.   1994 002;17(1):1-8
  • Costes B, Fanen P, Goossens M, Ghanem N   A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations.   1993;2(3):185-91
  • Coto E, Bousono C, Menendez MJ, Cue R, Toral JF, Benavides A, Hernando I, Plasencia A, Lopez-Larrea C   [Cystic fibrosis in Asturias: an elevated frequency of the delta F508 mutation].   1994 011 26;103(18):681-3
  • Coutelle C, Bruckner R, Grade K, Behrens F, Gedschold J, Hein J, Szibor R, Bauer I, Brock J, Graupner I, et al   Prevalence of cystic fibrosis mutations in the East German population.   1992;1(2):109-12
  • Cozens AL, Yezzi MJ, Chin L, Simon EM, Finkbeiner WE, Wagner JA, Gruenert DC   Characterization of immortal cystic fibrosis tracheobronchial gland epithelial cells.   1992 006 1;89(11):5171-5
  • Cremonesi L, Ferrari M, Belloni E, Magnani C, Seia M, Ronchetto P, Rady M, Russo MP, Romeo G, Devoto M   Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.   1992;1(4):314-9
  • Cremonesi L, Ruocco L, Seia M, Russo S, Giunta A, Ronchetto P, Fenu L, Romano L, Devoto M, Romeo G, et al   Frequency of the delta F508 mutation in a sample of 175 Italian cystic fibrosis patients.   1990 009;85(4):400-2
  • Cuckle H, Quirke P, Sehmi I, Lewis F, Murray J, Cross D, Cuckle P, Ozols B   Antenatal screening for cystic fibrosis.   1996 008;103(8):795-9
  • Cui KH, Haan EA, Wang LJ, Matthews CD   Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (delta F508)   1995 008 26;311(7004):536-40
  • Cui KH, Matthews CD   Nuclear structural conditions and PCR amplification in human preimplantation diagnosis.   1996 001;2(1):63-71
  • Cuppens H, Cassiman JJ   A quality control study of CFTR mutation screening in 40 different European laboratories. The European Concerted Action on Cystic Fibrosis.   1995;3(4):235-45
  • Cuppens H, Legius E, Cabello P, Marynen P, De Boeck C, Decorte R, Fryns JP, Eggermont E, Van den Berghe H, Cassiman JJ   Association between XV2c/CS7/KM19/D9 haplotypes and the delta F508 mutation. A study of 57 Belgian families.   1990 009;85(4):402-3
  • Cuppens H, Teng H, Raeymaekers P, De Boeck C, Cassiman JJ   CFTR haplotype backgrounds on normal and mutant CFTR genes.   1994 004;3(4):607-14
  • Curnow RN   Carrier risk calculations for recessive diseases when not all the mutant alleles are detectable.   1994 008 1;52(1):108-14
  • Curtis A, Nelson R, Porteous M, Burn J, Bhattacharya SS   Association of less common cystic fibrosis mutations with a mild phenotype.   1991 001;28(1):34-7
  • Cuthbert AW, Halstead J, Ratcliff R, Colledge WH, Evans MJ   The genetic advantage hypothesis in cystic fibrosis heterozygotes: a murine study.   1995 001 15;482 ( Pt 2):449-54
  • Cutting GR, Curristin SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C   Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.   1992 006;50(6):1185-94
  • Dabovic BB, Radojkovic D, Minic P, Savic J, Savic A   Frequency of the delta F508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients.   1992 003;88(6):699-700
  • Dahl M, Hansen AT, Lange P, Nordestgaard BG   [Carriers of cystic fibrosis are more susceptible to asthma. The Osterbro study].   1999 008 9;161(32):4507-9
  • Dahl M, Tybjaerg-Hansen A, Wittrup HH, Lange P, Nordestgaard BG   Cystic fibrosis Delta F508 heterozygotes, smoking, and reproduction: studies of 9141 individuals from a general population sample.   1998 005 15;50(1):89-96
  • Dahl N, Kollberg H   Prenatal prediction of cystic fibrosis in a mother homozygous for the delta F508 mutation.   1992 010;42(4):214-5
  • Dalemans W, Barbry P, Champigny G, Jallat S, Dott K, Dreyer D, Crystal RG, Pavirani A, Lecocq JP, Lazdunski M   Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation.   1991 012 19-26;354(6354):526-8
  • Dawson KP, Frossard PM   The geographic distribution of cystic fibrosis mutations gives clues about population origins.   2000 007;159(7):496-9
  • De Arce M, O'Brien S, Hegarty J, O'Mahoney SM, Cashman SM, Martinez A, Delgado M, FitzGerald MX   Deletion delta F508 and clinical expression of cystic fibrosis-related liver disease.   1992 011;42(5):271-2
  • De Braekeleer M, Allard C, Leblanc JP, Aubin G, Simard F   Correlation of sweat chloride concentration with genotypes in cystic fibrosis patients in Saguenay Lac-Saint-Jean, Quebec, Canada.   1998 002;31(1):33-6
  • De Braekeleer M, Allard C, Leblanc JP, Simard F, Aubin G   Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation.   1997 012;101(2):208-11
  • De Braekeleer M, Chaventre A, Bertorelle G, Verlingue C, Raguenes O, Mercier B, Ferec C   Linkage disequilibrium between the four most common cystic fibrosis mutations and microsatellite haplotypes in the Celtic population of Brittany.   1996 008;98(2):223-7
  • De Braekeleer M, Daigneault J, Allard C, Simard F, Aubin G   Genealogy and geographical distribution of CFTR mutations in Saguenay Lac-Saint-Jean (Quebec, Canada).   1996 009-010;23(5):345-52
  • De Schepper J, Hachimi-Idrissi S, Smitz J, Dab I, Loeb H   First-phase insulin release in adult cystic fibrosis patients: correlation with clinical and biological parameters.   1992;38(5-6):260-3
  • Della Gaspera B, Weinman S, Huber C, Lemnaouar M, Paul A, Picard J, Gruenert DC   Overexpression of annexin V in cystic fibrosis epithelial cells from fetal trachea.   1995 008;219(2):379-83
  • Deltas CC, Boteva K, Georgiou A, Papageorgiou E, Georgiou C   Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual.   1996 008;10(4):315-8
  • Demolombe S, Baro I, Bebok Z, Clancy JP, Sorscher EJ, Thomas-Soumarmon A, Pavirani A, Escande D   A method for the rapid detection of recombinant CFTR during gene therapy in cystic fibrosis.   1996 008;3(8):685-94
  • Demolombe S, Baro I, Laurent M, Hongre AS, Pavirani A, Escande D   Abnormal subcellular localization of mutated CFTR protein in a cystic fibrosis epithelial cell line.   1994 010;65(1):214-9
  • Dempsey SJ, D'Amico C, Weintraub WS, Lutz J, Smith AL, Ghazzal ZM, Book WM   Angiographic and clinical follow-up of percutaneous revascularization for transplant coronary artery disease.   2000 006;12(6):311-5
  • Deng C, Thomas KR, Capecchi MR   Location of crossovers during gene targeting with insertion and replacement vectors.   1993 004;13(4):2134-40
  • Denning GM, Anderson MP, Amara JF, Marshall J, Smith AE, Welsh MJ   Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive.   1992 008 27;358(6389):761-4
  • Denter M, Ramsay M, Jenkins T   Cystic fibrosis. Part I. Frequency of the delta F508 mutation in South African families with cystic fibrosis.   1992 007;82(1):7-10
  • Denter M, Ramsay M, Jenkins T   Cystic fibrosis. Part II. New developments in cystic fibrosis--implications for carrier detection and genetic counselling.   1992 007;82(1):11-3
  • Desgeorges M, Kjellberg P, Demaille J, Claustres M   A healthy male with compound and double heterozygosities for delta F508, F508C, and M47OV in exon 10 of the cystic fibrosis gene.   1994 002;54(2):384-5
  • Desgeorges M, Megarbane A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M   Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.   1997 008;100(2):279-83
  • Deufel T, Rabe H, Wieser T, Meitinger T, Rosenecker J, Bertele-Harms R, Harms K, Hadorn HB, Roscher AA   Mutation analysis in the diagnosis of cystic fibrosis.   1993 011;152(11):909-11
  • Devoto M, Ronchetto P, Fanen P, Orriols JJ, Romeo G, Goossens M, Ferrari M, Magnani C, Seia M, Cremonesi L   Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.   1991 006;48(6):1127-32
  • Devoto M, Ronchetto P, Romano L, Romeo G   Analysis of delta F508 does not confirm a previously reported recombination in a cystic fibrosis family.   1990 005;46(5):1004-5
  • Dodson LA, Kant JA   Two-temperature PCR and heteroduplex detection: application to rapid cystic fibrosis screening.   1991 002;5(1):21-5
  • Dork T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Bohm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M   Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.   1997 009;100(3-4):365-77
  • Dork T, Fislage R, Neumann T, Wulf B, Tummler B   Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.   1994 001;93(1):67-73
  • Dork T, Kalin N, Stuhrmann M, Schmidtke J, Tummler B   A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.   1992 011;90(3):279-84
  • Dork T, Neumann T, Wulbrand U, Wulf B, Kalin N, Maass G, Krawczak M, Guillermit H, Ferec C, Horn G, et al   Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.   1992 002;88(4):417-25
  • Dork T, Will K, Grade K, Krawczak M, Tummler B   A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.   1994;4(1):65-70
  • Dork T, Wulbrand U, Richter T, Neumann T, Wolfes H, Wulf B, Maass G, Tummler B   Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.   1991 008;87(4):441-6
  • Dork T, Wulbrand U, Tummler B   Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds.   1993 003;15(3):688-91
  • Dorval I, Jezequel P, Chauvel B, Dubourg C, Fergelot P, Le Gall JY, Roussey M, Blayau M   French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism.   1995;6(4):334-5
  • Dorval I, Odent S, Jezequel P, Journel H, Chauvel B, Dabadie A, Roussey M, Le Gall JY, Le Marec B, David V, et al   Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.   1993 004;91(3):254-6
  • Dosanjh A, Lencer W, Brown D, Ausiello DA, Stow JL   Heterologous expression of delta F508 CFTR results in decreased sialylation of membrane glycoconjugates.   1994 002;266(2 Pt 1):C360-6
  • Dray X, Zinzindohoue F, Cuillerier E, Cugnenc PH, Barbier JP, Marteau P   [Acute pancreatitis revealing cystic fibrosis in an adult].   1999 008-009;23(8-9):974-7
  • Dray-Charier N, Paul A, Scoazec JY, Veissiere D, Mergey M, Capeau J, Soubrane O, Housset C   Expression of delta F508 cystic fibrosis transmembrane conductance regulator protein and related chloride transport properties in the gallbladder epithelium from cystic fibrosis patients.   1999 006;29(6):1624-34
  • Dreesen JC, Bras M, Coonen E, Dumoulin JC, Evers JL, Geraedts JP   Allelic dropout caused by allele-specific amplification failure in single-cell PCR of the cystic fibrosis delta F508 deletion.   1996 002;13(2):112-4
  • Drumm ML, Wilkinson DJ, Smit LS, Worrell RT, Strong TV, Frizzell RA, Dawson DC, Collins FS   Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes.   1991 012 20;254(5039):1797-9
  • DuBose TD, Good DW   Effects of chronic Cl depletion alkalosis on proximal tubule transport and renal production of ammonium.   1995 010;269(4 Pt 2):F508-14
  • Duarte A, Amaral M, Barreto C, Pacheco P, Lavinha J   Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient.   1996;8(2):134-9
  • Duarte A, Barreto C, Marques-Pinto L, Tavares MC, Amil J, Pinto M, Chieira ML, Castedo S, Lavinha J   Cystic fibrosis in the Portuguese population: haplotype distribution and molecular pathology.   1990 009;85(4):404-5
  • Dufourcq R, Vuillaumier S, Pascaud O, Guidal C, Oury JF, Elion J, Denamur E   Compound heterozygosity for delta F508 and F508C: a cautionary note on the molecular diagnosis of cystic fibrosis.   1994 012;14(12):1176-7
  • Dumur V, Gervais R, Rigot JM, Delomel-Vinner E, Decaestecker B, Lafitte JJ, Roussel P   Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype.   1996 001;97(1):7-10
  • Dumur V, Gervais R, Rigot JM, Lafitte JJ, Manouvrier S, Biserte J, Mazeman E, Roussel P   Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens.   1990 008 25;336(8713):512
  • Dumur V, Lafitte JJ, Gervais R, Debaecker D, Kesteloot M, Lalau G, Roussel P   Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion.   1990 006 2;335(8701):1340
  • Durie PR   Pathophysiology of the pancreas in cystic fibrosis.   1992 010;41(3-4):97-100
  • Durieu I, Bellon G, Vital Durand D, Calemard L, Morel Y, Gilly R   [Cystic fibrosis in adults].   1995 012 16-23;24(39):1882-7
  • Duthie A, Doherty DG, Williams C, Scott-Jupp R, Warner JO, Tanner MS, Williamson R, Mowat AP   Genotype analysis for delta F508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease.   1992 004;15(4):660-4
  • Egan ME, Schwiebert EM, Guggino WB   Differential expression of ORCC and CFTR induced by low temperature in CF airway epithelial cells.   1995 001;268(1 Pt 1):C243-51
  • Eggerding FA, Iovannisci DM, Brinson E, Grossman P, Winn-Deen ES   Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations.   1995;5(2):153-65
  • Eguiguren AL, Rios J, Riveros N, Sepulveda FV, Stutzin A   Calcium-activated chloride currents and non-selective cation channels in a novel cystic fibrosis-derived human pancreatic duct cell line.   1996 008 14;225(2):505-13
  • Eiklid K, Tranebjaerg L, Eiken HG, Pedersen JC, Michalsen H, Fluge G, Schwartz M, Nilsen BR, Bolle R, Skyberg D, et al   Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients.   1993 007;44(1):12-4
  • Elias S, Annas GJ, Simpson JL   Carrier screening for cystic fibrosis: implications for obstetric and gynecologic practice.   1991 004;164(4):1077-83
  • Endreffy E, Burg K, Gyurkovits K, Kalman M, Laszlo A, Rasko I   Allele frequencies of cystic fibrosis-linked markers and F508 deletion in affected Hungarian families.   1992;32(2):101-13
  • Endreffy E, Laszlo , Szabo A, Roman F, Kurti K, Kalman M, Rasko I   Molecular genetic studies in monogenic and polygenic human diseases.   1997;48(1):121-8
  • Engelhardt JF, Yankaskas JR, Ernst SA, Yang Y, Marino CR, Boucher RC, Cohn JA, Wilson JM   Submucosal glands are the predominant site of CFTR expression in the human bronchus.   1992 011;2(3):240-8
  • Entzian P, Muller E, Boysen A, Artlich A, Schwinger E, Schlaak M   Frequency of common cystic fibrosis gene mutations in chronic bronchitis patients.   1995 005;55(3):263-6
  • Estivill X, Bancells C, Ramos C   Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.   1997;10(2):135-54
  • Estivill X, Chillon M, Casals T, Bosch A, Morral N, Nunes V, Gasparini P, Seia A, Pignatti PF, Novelli G, et al   Delta F508 gene deletion in cystic fibrosis in southern Europe.   1989 012 9;2(8676):1404
  • Estivill X, Ortigosa L, Perez-Frias J, Dapena J, Ferrer J, Pena L, Pena L, Llevadot R, Gimenez J, Nunes V, et al   Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences.   1995 003;95(3):331-6
  • Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M   Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.   1992 007;13(3):770-6
  • Fang P, Bouma S, Jou C, Gordon J, Beaudet AL   Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reaction.   1995;6(2):144-51
  • Fanning S, Joyce C, Corbett A, O'Mullane J, Cryan B   Applications of the polymerase chain reaction (PCR) in diagnosis.   1995 004-006;164(2):116-21
  • Farrell PM, Aronson RA, Hoffman G, Laessig RH   Newborn screening for cystic fibrosis in Wisconsin: first application of population-based molecular genetics testing.   1994 008;93(8):415-21
  • Farrell PM, Koscik RE   Sweat chloride concentrations in infants homozygous or heterozygous for F508 cystic fibrosis.   1996 004;97(4):524-8
  • Federici S, Iron A, Reboul MP, Desgeorges M, Claustres M, Bremont F, Bieth E     2001 002;8(2):150-7
  • Feingold J, Guilloud-Bataille M   Genetic comparisons of patients with cystic fibrosis with or without meconium ileus. Clinical Centers of the French CF Registry.   1999;42(3):147-50
  • Feingold J, Guilloud-Bataille M, De Crozes D   An abnormal distribution of delta F508 genotypes in cystic fibrosis patient registries.   1998;41(1):31-3
  • Fekete G, Varadi A, Pipiras E, Nemeth K, Rethy LA, Holics K, Ujhelyi R   [Detection of delta F508 mutation in cystic fibrosis].   1992 009 20;133(38):2423-4, 2427-30
  • Fellowes AP, Murphy JM, Wesley AW, Dawson KP, George PM   Molecular screening of cystic fibrosis patients.   1991 010 9;104(921):415-6
  • Ferec C, Guillermit H, Verlingue C, Parent P, Puissant H, Jehanne M, Saleun JP   [Direct diagnosis of predominant mutation delta F508 associated with the mucoviscidosis gene].   1990 008-009;47(7):507-10
  • Ferec C, Novelli G, Verlingue C, Quere I, Dallapiccola B, Audrezet MP, Mercier B   Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.   1995 004;9(2):135-7
  • Ferec C, Verlingue C, Guillermit H, Quere I, Raguenes O, Feigelson J, Audrezet MP, Moullier P, Mercier B   Genotype analysis of adult cystic fibrosis patients.   1993 010;2(10):1557-60
  • Fernandez Garcia E, Nunes Martinez V, Ibanez Olias MA, Benitez Ortiz J   [Diagnostic value of the deletion of the delta F508 gene in cystic fibrosis].   1991 011;35(5):307-8
  • Ferrer Calvete J, Cordoba J, Beneyto M, Ribes C, Pereda A   [Detection of Delta-F508 mutation by PCR (polymerase chain reaction) in patients with cystic fibrosis].   1993 012;39(6):557-8
  • Ferrie RM, Schwarz MJ, Robertson NH, Vaudin S, Super M, Malone G, Little S   Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.   1992 008;51(2):251-62
  • Fitzgerald D, Van Asperen P, Henry R, Waters D, Freelander M, Wilson M, Wilcken B, Gaskin K   Delayed diagnosis of cystic fibrosis in children with a rare genotype (delta F508/R117H).   1995 006;31(3):168-71
  • Flores Martinez SE, Gallegos Arreola MP, Moran Moguel MC, Sanchez Corona J   Detection of delta F508 mutation in cystic fibrosis patients from northwestern Mexico.   1997;40(3):189-91
  • Flores-Martinez SE, Dean M, Saiki RK, Gallegos-Arreola MP, Moran-Moguel MC, Sanchez-Corona J   Molecular analysis of northwestern Mexican patients with cystic fibrosis: screening of 10 known mutations. Mutations in brief no. 185. Online.   1998;12(3):217-8
  • Fonknechten N, Chelly J, Lepercq J, Kahn A, Kaplan JC, Kitzis A, Chomel JC   CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts.   1992 003;88(5):508-12
  • Fortina P, Conant R, Monokian G, Dotti G, Parrella T, Hitchcock W, Kant J, Scanlin T, Rappaport E, Schwartz E, et al   Non-radioactive detection of the most common mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex allele-specific polymerase chain reaction.   1992 012;90(4):375-8
  • Fortina P, Conant R, Parrella T, Rappaport E, Scanlin T, Schwartz E, Robertson JM, Surrey S   Fluorescence-based, multiplex allele-specific PCR (MASPCR) detection of the delta F508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1992 008;6(4):353-6
  • French PJ, van Doorninck JH, Peters RH, Verbeek E, Ameen NA, Marino CR, de Jonge HR, Bijman J, Scholte BJ   A delta F508 mutation in mouse cystic fibrosis transmembrane conductance regulator results in a temperature-sensitive processing defect in vivo.   1996 009 15;98(6):1304-12
  • Fried MD, Durie PR, Tsui LC, Corey M, Levison H, Pencharz PB   The cystic fibrosis gene and resting energy expenditure.   1991 012;119(6):913-6
  • Friedman KJ, Heim RA, Knowles MR, Silverman LM   Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease.   1997;10(2):108-15
  • Friedman KJ, Teichtahl H, De Kretser DM, Temple-Smith P, Southwick GJ, Silverman LM, Highsmith WE, Boucher RC, Knowles MR   Screening Young syndrome patients for CFTR mutations.   1995 010;152(4 Pt 1):1353-7
  • Fugger EF, Maddalena A, Schulman JD   Results of retroactive testing of human semen donors for cystic fibrosis and human immunodeficiency virus by polymerase chain reaction.   1993 009;8(9):1435-7
  • Fuller CM, Benos DJ   CFTR!   1992 008;263(2 Pt 1):C267-86
  • Fuller W, Cuthbert AW   Post-translational disruption of the delta F508 cystic fibrosis transmembrane conductance regulator (CFTR)-molecular chaperone complex with geldanamycin stabilizes delta F508 CFTR in the rabbit reticulocyte lysate.   2000 012 1;275(48):37462-8
  • Gan KH, Geus WP, Bakker W, Lamers CB, Heijerman HG   Genetic and clinical features of patients with cystic fibrosis diagnosed after the age of 16 years.   1995 012;50(12):1301-4
  • Gan KH, Veeze HJ, van den Ouweland AM, Halley DJ, Scheffer H, van der Hout A, Overbeek SE, de Jongste JC, Bakker W, Heijerman HG   A cystic fibrosis mutation associated with mild lung disease.   1995 007 13;333(2):95-9
  • Garcia-Garcia E, Lopez-Siguero JP, Olveira C, Perez-Ruiz E, Garcia JM, Perez-Frias J, Martinez-Valverde A   [Carbohydrate metabolic changes in cystic fibrosis].   1999 011 13;113(16):601-3
  • Garnerone S, Restagno G, Santini B, Carbonara A   [Cystic fibrosis: molecular genetics and new perspectives of prevention and therapy].   1994 004-006;9(2):67-73
  • Gasparini P, Arbustini E, Restagno G, Zelante L, Stanziale P, Gatta L, Sbaiz L, Sedita AM, Banchieri N, Sapone L, Fiorucci GC, Brinson E, Shulse E, Rappaport E, Fortina P   Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis.   1999;6(2):67-9
  • Gasparini P, Nunes V, Savoia A, Dognini M, Morral N, Gaona A, Bonizzato A, Chillon M, Sangiuolo F, Novelli G, et al   The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.   1991 005;10(1):193-200
  • Gasparini P, Pignatti PF, Borgo G, Mastella G   Sweat chloride concentration in cystic fibrosis patients varies with KM.19 genotype but not with the presence of the common F508 deletion.   1991 005 1;39(2):230-1
  • Gecz J, Magdolen P, Tomova V, Ondrejcak M, Hruskovic I, Hinst J, Ferak V   [Rapid prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: results of the first 5 cases].   1992 002;93(2):76-81
  • Gelfi C, Orsi A, Righetti PG, Brancolini V, Cremonesi L, Ferrari M   Capillary zone electrophoresis of polymerase chain reaction-amplified DNA fragments in polymer networks: the case of GATT microsatellites in cystic fibrosis.   1994 005;15(5):640-3
  • Gelfi C, Righetti PG, Brancolini V, Cremonesi L, Ferrari M   Capillary electrophoresis in polymer networks for analysis of PCR products: detection of delta F508 mutation in cystic fibrosis.   1994 008;40(8):1603-5
  • Gelfi C, Righetti PG, Magnani C, Cremonesi L, Ferrari M   Simultaneous detection of delta F508, G542X, N1303K and 1717-1G-->A mutations in cystic fibrosis by capillary electrophoresis in polymer networks.   1994 009;229(1-2):181-9
  • Gembitskaia TE, Kocharian RK, Petrova MA   [Clinical significance of specific features of HLA antigen incidence in patients with mucoviscidosis and in their relatives].   1996;(3):41-4
  • Gervais R, Lafitte JJ, Dumur V, Kesteloot M, Lalau G, Houdret N, Roussel P   Sweat chloride and delta F508 mutation in chronic bronchitis or bronchiectasis.   1993 010 16;342(8877):997
  • Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M   Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1994 005 15;21(2):434-6
  • Ghanem N, Fanen P, Martin J, Conteville P, Yahia-Cherif Z, Vidaud M, Goossens M   Exhaustive screening of exon 10 CFTR gene mutations and polymorphisms by denaturing gradient gel electrophoresis: applications to genetic counselling in cystic fibrosis.   1992 002;6(1):27-31
  • Gibbons WE, Gitlin SA, Lanzendorf SE   Strategies to respond to polymerase chain reaction deoxyribonucleic acid amplification failure in a preimplantation genetic diagnosis program.   1995 004;172(4 Pt 1):1088-95; discussion 1095-6
  • Gibson NJ, Gillard HL, Whitcombe D, Ferrie RM, Newton CR, Little S   A homogeneous method for genotyping with fluorescence polarization.   1997 008;43(8 Pt 1):1336-41
  • Gilbert A, Jadot M, Leontieva E, Wattiaux-De Coninck S, Wattiaux R   Delta F508 CFTR localizes in the endoplasmic reticulum-Golgi intermediate compartment in cystic fibrosis cells.   1998 007 10;242(1):144-52
  • Gille C, Grade K, Coutelle C   A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation.   1991 001;86(3):289-91
  • Gimbovskaia SD, Kalinin VN, Ivashchenko TE, Baranov VS   [Molecular-genetic analysis of certain mutations of the "cystic fibrosis gene" in Moldavia. Characteristics of molecular markers and their linkage with various mutations].   1994 012;30(12):1616-20
  • Girod de Bentzmann S, Bajolet-Laudinat O, Dupuit F, Pierrot D, Fuchey C, Plotkowski MC, Puchelle E   Protection of human respiratory epithelium from Pseudomonas aeruginosa adherence by phosphatidylglycerol liposomes.   1994 002;62(2):704-8
  • Goldblatt J, Creegan R, Edkins T, Landau LI, Ryan G, Walpole IR   Mutation analysis of Western Australian families affected by cystic fibrosis.   1995 001 2;162(1):12-5
  • Goldman A, Jenkins T, Ramsay M   Analysis of 40 known cystic fibrosis mutations in South African patients.   1994 012;46(6):398-400
  • Goldman BS, Sherman DA, Kranz RG   Comparison of the bacterial HelA protein to the F508 region of the cystic fibrosis transmembrane regulator.   1997 012;179(24):7869-71
  • Goossens M   [The cystic fibrosis gene: mutation and the function of CFTR protein].   1991 011;38(9):591-4
  • Goossens M, Fanen P, Costes B, Ghanem N   [The cystic fibrosis gene, its product CFTR protein and its mutations].   1993 003;177(3):371-80; discussion 380-1
  • Goossens V, Sermon K, Lissens W, Vandervorst M, Vanderfaeillie A, De Rijcke M, De Vos A, Henderix P, Van De Velde H, Van Steirteghem A, Liebaers I   Clinical application of preimplantation genetic diagnosis for cystic fibrosis.   2000 007;20(7):571-81
  • Grade K, Grunewald I, Graupner I, Behrens F, Coutelle C   Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis.   1994 008;94(2):154-8
  • Grade K, Will K, Szibor R, Gedschold J, Bruckner R, Bauer I, Giermann K, Gorki H, Hein J, Brell U, et al   First analysis of the F508 deletion in cystic fibrosis patients from the GDR.   1990 009;85(4):406-7
  • Granell R, Solera J, Carrasco S, Molano J   Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.   1992 005;50(5):1022-6
  • Grasemann H, Knauer N, Buscher R, Hubner K, Drazen JM, Ratjen F   Airway nitric oxide levels in cystic fibrosis patients are related to a polymorphism in the neuronal nitric oxide synthase gene.   2000 012;162(6):2172-6
  • Grebe TA, Doane WW, Richter SF, Clericuzio C, Norman RA, Seltzer WK, Rhodes SN, Goldberg BE, Hernried LS, McClure M, et al   Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.   1992 010;51(4):736-40
  • Grebe TA, Seltzer WK, DeMarchi J, Silva DK, Doane WW, Gozal D, Richter SF, Bowman CM, Norman RA, Rhodes SN, et al   Genetic analysis of Hispanic individuals with cystic fibrosis.   1994 003;54(3):443-6
  • Green MR, Weaver LT, Heeley AF, Nicholson K, Kuzemko JA, Barton DE, McMahon R, Payne SJ, Austin S, Yates JR, et al   Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history.   1993 004;68(4):464-7
  • Gregg RG, Wilfond BS, Farrell PM, Laxova A, Hassemer D, Mischler EH   Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols.   1993 003;52(3):616-26
  • Greil I, Wagner K, Eber E, Zach M, Rosenkranz W   Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene.   1995;107(15):464-9
  • Gribkoff VK, Champigny G, Barbry P, Dworetzky SI, Meanwell NA, Lazdunski M   The substituted benzimidazolone NS004 is an opener of the cystic fibrosis chloride channel.   1994 004 15;269(15):10983-6
  • Grubb B, Lazarowski E, Knowles M, Boucher R   Isobutylmethylxanthine fails to stimulate chloride secretion in cystic fibrosis airway epithelia.   1993 004;8(4):454-60
  • Guay-Broder C, Jacobson KA, Barnoy S, Cabantchik ZI, Guggino WB, Zeitlin PL, Turner RJ, Vergara L, Eidelman O, Pollard HB   A1 receptor antagonist 8-cyclopentyl-1,3-dipropylxanthine selectively activates chloride efflux from human epithelial and mouse fibroblast cell lines expressing the cystic fibrosis transmembrane regulator delta F508 mutation.   1995 007 18;34(28):9079-87
  • Guggino SE   Evolution of the delta F508 CFTR mutation.   1999 002;7(2):55-6; discussion 56-8
  • Guillermit H, Fanen P, Ferec C   A 3' splice site consensus sequence mutation in the cystic fibrosis gene.   1990 009;85(4):450-3
  • Guillermit H, Jehanne M, Quere I, Audrezet MP, Mercier B, Ferec C   A novel mutation in exon 3 of the CFTR gene.   1993 004;91(3):233-5
  • Hallberg K, Grzegorczyk A, Larson G, Strandvik B   Intestinal permeability in cystic fibrosis in relation to genotype.   1997 009;25(3):290-5
  • Halley DJ, Veeze HJ, Sandkuyl LA, Wesby-van Swaay E, van Damme NH, Deelen WH, Witte JE, Niermeijer MF   The mutation delta F508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis.   1990 009;85(4):407-8
  • Hamdi I, Payne SJ, Barton DE, McMahon R, Green M, Shneerson JM, Hales CN   Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus.   1993 004;43(4):186-9
  • Hamosh A, King TM, Rosenstein BJ, Corey M, Levison H, Durie P, Tsui LC, McIntosh I, Keston M, Brock DJ, et al   Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.   1992 008;51(2):245-50
  • Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR   Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.   1991 012;88(6):1880-5
  • Handyside AH, Lesko JG, Tarin JJ, Winston RM, Hughes MR   Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis.   1992 009 24;327(13):905-9
  • Harris A   Cystic fibrosis gene.   1992 010;48(4):738-53
  • Hartman J, Huang Z, Rado TA, Peng S, Jilling T, Muccio DD, Sorscher EJ   Recombinant synthesis, purification, and nucleotide binding characteristics of the first nucleotide binding domain of the cystic fibrosis gene product.   1992 004 5;267(10):6455-8
  • Haws CM, Nepomuceno IB, Krouse ME, Wakelee H, Law T, Xia Y, Nguyen H, Wine JJ   Delta F508-CFTR channels: kinetics, activation by forskolin, and potentiation by xanthines.   1996 005;270(5 Pt 1):C1544-55
  • Heda GD, Tanwani M, Marino CR   The Delta F508 mutation shortens the biochemical half-life of plasma membrane CFTR in polarized epithelial cells.   2001 001;280(1):C166-74
  • Heinonen P, Iitia A, Torresani T, Lovgren T   Simple triple-label detection of seven cystic fibrosis mutations by time-resolved fluorometry.   1997 007;43(7):1142-50
  • Hendrickx J, Wauters J, Coucke P, Vits L, Van der Auwera B, Willems PJ   DNA diagnosis of cystic fibrosis by direct detection of the delta F508 mutation.   1991;46(1):13-7
  • Henry RL, Hettiarachchi LC, Colley P, Collins C, O'Loughlin EV, Cooper DM   Genotype of the cystic fibrosis population of the Hunter Region of New South Wales.   1996 010;32(5):416-8
  • Herbert JS, Retief AE   The frequency of the delta F508 mutation in the cystic fibrosis genes of 71 unrelated South African cystic fibrosis patients.   1992 007;82(1):13-5
  • Hidaka N, Hidaka Y   [Cystic fibrosis lung disease and its management].   1999 009;57(9):2139-44
  • Higgins GS, Little DP, Koster H   Competitive oligonucleotide single-base extension combined with mass spectrometric detection for mutation screening.   1997 010;23(4):710-4
  • Hiort O, Artlich A, Wiebicke W   [A 13-year-old boy with a mild form of cystic fibrosis and heterozygote gene mutation for Delta F508].   1991 011;45(11):910-2
  • Hirsh A, Williams C, Williamson B   Young's syndrome and cystic fibrosis mutation delta F508.   1993 007 10;342(8863):118
  • Hoffman RA, Floyd ME, Whetsell LH, Kramer JC, Schaefer FV   Cystic fibrosis in the southern Midwest United States: molecular characterization of the common mutations.   1994 002;307(2):82-5
  • Hojo S, Fujita J, Obayashi Y, Ohnishi T, Yamaji Y, Okada H, Takahara J   [Two cases of cystic fibrosis in Japanese/German twins].   1997 011;35(11):1259-64
  • Honnor M, Zubrick SR, Walpole I, Bower C, Goldblatt J   Population screening for cystic fibrosis in Western Australia: community response.   2000 007 31;93(3):198-204
  • Hopfer SM, Makowski GS, Davis EL, Aslanzadeh J   Detection of cystic fibrosis delta F508 mutation by anti-double-stranded DNA antibody.   1995 011-012;25(6):475-84
  • Hsu IC, Highsmith WE, Xu J, Kong D   Mismatch cleavage detects base deletion in cystic fibrosis gene.   1998 010;25(4):692-6
  • Hubert D, Rivoal V, Desmazes-Dufeu N, Lacronique J, Maurer C, Richaud-Thiriez B, Dusser D   [Characteristics and specificities of cystic fibrosis in adults: evolutive disease of childhood or recently diagnosed disease]?   2000 008;17(3 Pt 2):749-57
  • Hughes D, Wallace A, Taylor J, Tassabehji M, McMahon R, Hill A, Nevin N, Graham C   Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes.   1996;8(3):229-35
  • Hughes DJ, Hill AJ, Macek M, Redmond AO, Nevin NC, Graham CA   Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.   1996;8(4):340-7
  • Hull J, Shackleton S, Harris A   Abnormal mRNA splicing resulting from three different mutations in the CFTR gene.   1993 006;2(6):689-92
  • Hundrieser J, Bremer S, Peinemann F, Stuhrmann M, Hoffknecht N, Wulf B, Schmidtke J, Reiss J, Maass G, Tummler B   Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients.   1990 009;85(4):409-10
  • Hwang TC, Wang F, Yang IC, Reenstra WW   Genistein potentiates wild-type and delta F508-CFTR channel activity.   1997 009;273(3 Pt 1):C988-98
  • Iitia A, Hogdall E, Dahlen P, Hurskainen P, Vuust J, Siitari H   Detection of mutation delta F508 in the cystic fibrosis gene using allele-specific PCR primers and time-resolved fluorometry.   1992 011;2(2):157-62
  • Illek B, Yankaskas JR, Machen TE   cAMP and genistein stimulate HCO3- conductance through CFTR in human airway epithelia.   1997 004;272(4 Pt 1):L752-61
  • Irving RM, McMahon R, Clark R, Jones NS   Cystic fibrosis transmembrane conductance regulator gene mutations in severe nasal polyposis.   1997 012;22(6):519-21
  • Ivaschenko TE, Baranov VS, Dean M   Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia.   1993 003;91(1):63-5
  • Jacobson KA, Guay-Broder C, van Galen PJ, Gallo-Rodriguez C, Melman N, Jacobson MA, Eidelman O, Pollard HB   Stimulation by alkylxanthines of chloride efflux in CFPAC-1 cells does not involve A1 adenosine receptors.   1995 007 18;34(28):9088-94
  • Jalanko A, Kere J, Savilahti E, Schwartz M, Syvanen AC, Ranki M, Soderlund H   Screening for defined cystic fibrosis mutations by solid-phase minisequencing.   1992 001;38(1):39-43
  • Jaume-Roig B, Simon-Bouy B, Taillandier A, Serre JL, Antich J, Bellon J, Boue J, Boue A   Genotyping of the Spanish cystic fibrosis population at the delta F508 mutation site and RFLP linked loci.   1990 009;85(4):410-1
  • Jensen TJ, Loo MA, Pind S, Williams DB, Goldberg AL, Riordan JR   Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.   1995 010 6;83(1):129-35
  • Jezequel P, Dorval I, Fergelot P, Chauvel B, Le Treut A, Le Gall JY, Le Lannou D, Blayau M   Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.   1995 006;41(6 Pt 1):833-5
  • Ji YZ, Nicolas JC, Marechal V, Desire N, Pavirani A, Milliez J   [Preimplantation diagnosis of delta F508 mutation of mucoviscidosis in transgenic mice].   1995 009 16;24(26):1193-7
  • Johansen HK, Nir M, Hoiby N, Koch C, Schwartz M   Severity of cystic fibrosis in patients homozygous and heterozygous for delta F508 mutation.   1991 003 16;337(8742):631-4
  • Johnson JP, Louie E, Lewiston NJ, Wine JJ   beta-adrenergic sweat responses in cystic fibrosis heterozygotes with and without the delta F508 allele.   1991 006;29(6):525-8
  • Jorgensen FS, Bang J, Tranebjaerg L, Berge LN, Eik-Nes SH, Schwartz M   Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination.   1994 002;14(2):149-52
  • Jouk PS, Monnier N, Bernard-Guelle F, Lunardi J, Joannard A, Chambaz E, Jalbert P   [Prenatal diagnosis of mucoviscidosis: indication of enzyme determination and molecular biology techniques].   1992;47(3):201-5
  • Jung U, Urner U, Grade K, Coutelle C   Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population.   1994 007;94(1):19-24
  • Kadasi L, Gecz J, Krivusova T, Matusek J, Ferak V   Haplotype analysis of the CFTR gene region and the proportion of delta F508 deletion in Slovak patients with cystic fibrosis.   1992;2(2):141-2
  • Kadasi L, Gecz J, Matusek J, Krivusova T, Ferak V, Devoto M, Hruskovic J, Romeo G   Deletion delta F508 and haplotype analysis of CFTR gene region in Slovak CF patients.   1992 005;89(3):305-6
  • Kadasi L, Gecz J, Puliti A, Devoto M, Ferak V, Romeo G, Kayserova H, Kardosova A, Hruskovic I   [The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population].   1992 003;93(3):141-5
  • Kadasi L, Polakova H, Zatkova A, Kayserova H   Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients.   1997 004;11(1):51-6
  • Kadasi L, Polakova H, Zatkova A, Kayserova H, Hruskovic I   [The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia].   1998 001;99(1):33-6
  • Kalaydjieva L, Antov J, Bronzova J, Vladimirova V, Horst J   Molecular data on cystic fibrosis in Bulgaria.   1990 009;85(4):412-3
  • Kalin N, Dork T, Tummler B   A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator.   1992;1(3):204-10
  • Kalman YM, Kerem E, Darvasi A, DeMarchi J, Kerem B   Difference in frequencies of the cystic fibrosis alleles, delta F508 and W1282X, between carriers and patients.   1994;2(2):77-82
  • Kaplan DM, Niv A, Aviram M, Parvari R, Leiberman A, Fliss DM   The 3849 + 10 kB C-->T mutation in a 21-year-old patient with cystic fibrosis.   1996 012;75(12):793-5
  • Kaplan NL, Lewis PO, Weir BS   Age of the delta F508 cystic fibrosis mutation.   1994 011;8(3):216-8
  • Kaplan TA, Moccia-Loos G, Rabin M, McKey RM   Lack of effect of delta F508 mutation on aerobic capacity in patients with cystic fibrosis.   1996 010;6(4):226-31
  • Kartner N, Augustinas O, Jensen TJ, Naismith AL, Riordan JR   Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland.   1992 008;1(5):321-7
  • Katz F, Webb D, Gibbons B, Reeves B, McMahon C, Chessells J, Mitchell C   Possible evidence for genomic imprinting in childhood acute myeloblastic leukaemia associated with monosomy for chromosome 7.   1992 003;80(3):332-6
  • Kelley TJ, Cotton CU, Drumm ML   In vivo activation of CFTR-dependent chloride transport in murine airway epithelium by CNP.   1997 011;273(5 Pt 1):L1065-72
  • Kelley TJ, Thomas K, Milgram LJ, Drumm ML   In vivo activation of the cystic fibrosis transmembrane conductance regulator mutant deltaF508 in murine nasal epithelium.   1997 003 18;94(6):2604-8
  • Kere J, Estivill X, Chillon M, Morral N, Nunes V, Norio R, Savilahti E, de la Chapelle A   Cystic fibrosis in a low-incidence population: two major mutations in Finland.   1994 002;93(2):162-6
  • Kere J, Savilahti E, Norio R, Estivill X, de la Chapelle A   Cystic fibrosis mutation delta F508 in Finland: other mutations predominate.   1990 009;85(4):413-5
  • Kerem B, Chiba-Falek O, Kerem E   Cystic fibrosis in Jews: frequency and mutation distribution.   1997;1(1):35-9
  • Kerem B, Kerem E   The molecular basis for disease variability in cystic fibrosis.   1996;4(2):65-73
  • Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, et al   Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.   1990 011;87(21):8447-51
  • Kerem E, Corey M, Kerem BS, Rommens J, Markiewicz D, Levison H, Tsui LC, Durie P   The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).   1990 011 29;323(22):1517-22
  • Kerem E, Kerem B   The relationship between genotype and phenotype in cystic fibrosis.   1995 011;1(6):450-6
  • Kerem E, Reisman J, Corey M, Bentur L, Canny G, Levison H   Wheezing in infants with cystic fibrosis: clinical course, pulmonary function, and survival analysis.   1992 011;90(5):703-6
  • Kibble JD, Neal AM, Colledge WH, Green R, Taylor CJ   Evidence for cystic fibrosis transmembrane conductance regulator-dependent sodium reabsorption in kidney, using Cftr(tm2cam) mice.   2000 007 1;526 Pt 1:27-34
  • King BM, Rozaklis T, Hopwood JJ, Harper GS   Sulfate transport in normal and cystic fibrosis fibroblasts.   1992 006;47(3):260-4
  • Kingdom TT, Lee KC, FitzSimmons SC, Cropp GJ   Clinical characteristics and genotype analysis of patients with cystic fibrosis and nasal polyposis requiring surgery.   1996 011;122(11):1209-13
  • Kirk JM, Keston M, McIntosh I, al Essa S   Variation of sweat sodium and chloride with age in cystic fibrosis and normal populations: further investigations in equivocal cases.   1992 003;29 ( Pt 2):145-52
  • Klaassen T, Teder M, Viikmaa M, Metspalu A   Neonatal screening for the cystic fibrosis main mutation delta F508 in Estonia.   1998;5(1):16-9
  • Klinger K, Horn GT, Stanislovitis P, Schwartz RH, Fujiwara TM, Morgan K   Cystic fibrosis mutations in the Hutterite Brethren.   1990 005;46(5):983-7
  • Ko YH, Thomas PJ, Delannoy MR, Pedersen PL   The cystic fibrosis transmembrane conductance regulator. Overexpression, purification, and characterization of wild type and delta F508 mutant forms of the first nucleotide binding fold in fusion with the maltose-binding protein.   1993 011 15;268(32):24330-8
  • Kobayashi K   [DNA analysis and gene diagnosis of cystic fibrosis].   1991 010;39(10):1057-64
  • Kobayashi K, Knowles MR, Boucher RC, O'Brien WE, Beaudet AL   Benign missense variations in the cystic fibrosis gene.   1990 010;47(4):611-5
  • Koprubasi FF, Malik N, Bosch-al-Jadooa N, Alkan M, Tanac R, Buhler E   Molecular genetic analysis of Turkish cystic fibrosis patients.   1993;36(3):144-9
  • Kosztolanyi G, Malik N, Rutishauser M   Mild CF in a delta F508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes?   1996 002;49(2):103-5
  • Kottgen M, Busch AE, Hug MJ, Greger R, Kunzelmann K   N-Acetyl-L-cysteine and its derivatives activate a Cl- conductance in epithelial cells.   1996 002;431(4):549-55
  • Kravchenko SA, Livshits LA   [An analysis of mutations in the 7th, 10th and 11th exons and of the polymorphism of the 4 nucleotide tandem repeats from the 3' end of the 6th intron of the CFTR gene in families from Ukraine with a high risk of mucoviscidosis].   1993 007-008;27(4):72-7
  • Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, Durie P   Genetic determination of exocrine pancreatic function in cystic fibrosis.   1992 006;50(6):1178-84
  • Kubesch P, Dork T, Wulbrand U, Kalin N, Neumann T, Wulf B, Geerlings H, Weissbrodt H, von der Hardt H, Tummler B   Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis.   1993 001 23;341(8839):189-93
  • Kunzelmann K, Lei DC, Eng K, Escobar LC, Koslowsky T, Gruenert DC   Epithelial cell specific properties and genetic complementation in a delta F508 cystic fibrosis nasal polyp cell line.   1995 009;31(8):617-24
  • Kunzelmann K, Nitschke R   Defects in processing and trafficking of cystic fibrosis transmembrane conductance regulator.   2000 011-012;8(6):332-42
  • Kunzelmann K, Schwiebert EM, Zeitlin PL, Kuo WL, Stanton BA, Gruenert DC   An immortalized cystic fibrosis tracheal epithelial cell line homozygous for the delta F508 CFTR mutation.   1993 005;8(5):522-9
  • Lamy S, da Silva LP, Lopes B, Pacheco P, Lavinha J, Amaral JM, Marques JM   [Mucoviscidosis with respiratory symptomatology in the neonatal period].   1997 002-003;10(2-3):209-12
  • Lanng S, Schwartz M, Thorsteinsson B, Koch C   Endocrine and exocrine pancreatic function and the delta F508 mutation in cystic fibrosis.   1991 011;40(5):345-8
  • Laroche D, Peres O, Briard ML, Lemonnier F, Pasquet-Ferre C, Blandin C, Travert G, Fernandez Y   [A new strategy of neonatal screening for cystic fibrosis. The association of immunoreactive trypsin and molecular biology in dried blood].   1990 004;47(4):251-3
  • Laroche D, Travert G   Abnormal frequency of delta F508 mutation in neonatal transitory hypertrypsinaemia.   1991 001 5;337(8732):55
  • Larsen J, Campbell S, Faragher EB, Gotz M, Eichler I, Waldherr S, Dobianer K, Spona J   Cystic fibrosis screening in neonates--measurement of immunoreactive trypsin and direct genotype analysis for delta F508 mutation.   1994 008;153(8):569-73
  • Larsen J, Georghiou A, Kury FD, Gotz M, Sanz K, Dobianer K, Spona J   Frequency of delta F508 mutation and haplotype analysis in Austrian cystic fibrosis families.   1992 006;89(4):464-5
  • Le Lannou D, Jezequel P, Blayau M, Dorval I, Lemoine P, Dabadie A, Roussey M, Le Marec B, Legall JY   Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach.   1995 002;10(2):338-41
  • Lee LG, Connell CR, Bloch W   Allelic discrimination by nick-translation PCR with fluorogenic probes.   1993 008 11;21(16):3761-6
  • Lemnaouar M, Chastre E, Paul A, Mergey M, Veissiere D, Cherqui G, Barbry P, Simon-Bouy B, Fanen P, Gespach C, et al   Oncogene-mediated propagation of tracheal epithelial cells from two cystic fibrosis fetuses with different mutations. Characterization of CFT-1 and CFT-2 cells in culture.   1993 003;23(3):151-60
  • Leoni GB, Rosatelli C, Sardu R, Scarpa G, Silvetti M, Cao A   Molecular bases for cystic fibrosis in the Sardinian population.   1990 009;85(4):415
  • Lerer I, Cohen S, Chemke M, Friedmen A, Abeliovich D   The delta F508 mutation in Israeli CF families.   1991;290:365-6
  • Lerer I, Cohen S, Chemke M, Sanilevich A, Rivlin J, Golan A, Yahav J, Friedman A, Abeliovich D   The frequency of the delta F508 mutation on cystic fibrosis chromosomes in Israeli families: correlation to CF haplotypes in Jewish communities and Arabs.   1990 009;85(4):416-7
  • Lerer I, Sagi M, Cutting GR, Abeliovich D   Cystic fibrosis mutations delta F508 and G542X in Jewish patients.   1992 002;29(2):131-3
  • Lester LA, Kraut J, Lloyd-Still J, Karrison T, Mott C, Billstrand C, Lemke A, Ober C   Delta F508 genotype does not predict disease severity in an ethnically diverse cystic fibrosis population.   1994 001;93(1):114-8
  • Levistre R, Lemnaouar M, Rybkine T, Bereziat G, Masliah J   Increase of bradykinin-stimulated arachidonic acid release in a delta F508 cystic fibrosis epithelial cell line.   1993 006 19;1181(3):233-9
  • Li C, Ramjeesingh M, Reyes E, Jensen T, Chang X, Rommens JM, Bear CE   The cystic fibrosis mutation (delta F508) does not influence the chloride channel activity of CFTR.   1993 004;3(4):311-6
  • Liechti-Gallati S, Bonsall I, Malik N, Schneider V, Kraemer LG, Ruedeberg A, Moser H, Kraemer R   Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations.   1992 008;32(2):175-8
  • Liechti-Gallati S, Malik N, Alkan M, Maechler M, Morris M, Thonney F, Sennhauser F, Moser H   Association between haplotypes and specific mutations in Swiss cystic fibrosis families.   1991 010;30(4):304-8
  • Liechti-Gallati S, Parsai I, Kraemer R, Rudeberg A, Braga S, Moser H   The delta F508-deletion in 99 CF patients of Switzerland.   1991;290:367-8
  • Lindeman R, Wallace R, Volpato F, Hu SP, Trent RJ   Utility of the polymerase chain reaction (PCR) for prenatal diagnosis of genetic disease.   1991 004;23(2):158-63
  • Lindner M, Wolf A, Moh B, Steinbach P, Kleihauer E, Bartram CR, Kulozik AE   The spectrum of CFTR mutations in south-west German cystic fibrosis patients.   1992 011;90(3):267-9
  • Lishanski A, Ostrander EA, Rine J   Mutation detection by mismatch binding protein, MutS, in amplified DNA: application to the cystic fibrosis gene.   1994 003 29;91(7):2674-8
  • Lissens W, Bonduelle M, Malfroot A, Dab I, Liebaers I   The prevalence of the deletion F508 in a Belgian cystic fibrosis population.   1991;290:369-70
  • Liu J, Lissens W, Devroey P, Liebaers I, Van Steirteghem AC   Efficiency of polymerase chain reaction assay for cystic fibrosis in single human blastomeres according to the presence or absence of nuclei.   1993 004;59(4):815-9
  • Liu J, Lissens W, Devroey P, Van Steirteghem A, Liebaers I   Efficiency and accuracy of polymerase-chain-reaction assay for cystic fibrosis allele delta F508 in single cell.   1992 005 16;339(8803):1190-2
  • Liu J, Lissens W, Devroey P, Van Steirteghem A, Liebaers I   Polymerase chain reaction analysis of the cystic fibrosis delta F508 mutation in human blastomeres following oocyte injection of a single sperm from a carrier.   1993 009;13(9):873-80
  • Liu J, Lissens W, Silber SJ, Devroey P, Liebaers I, Van Steirteghem A   Birth after preimplantation diagnosis of the cystic fibrosis delta F508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm.   1994 012 21;272(23):1858-60
  • Livshits LA, Kravchenko SA   Cystic Fibrosis in Ukraine: age, origin and tracing of the delta F508 mutation.   1996 012;10(3):219-27
  • Livshyts' LA, Gryshko VI, Kravchenko SA   [Possibilities and prospects of the use of DNA analysis in the diagnosis and prevention of inherited disease in the Ukraine].   1992 007-008;26(4):35-42
  • Logan J, Hiestand D, Daram P, Huang Z, Muccio DD, Hartman J, Haley B, Cook WJ, Sorscher EJ   Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding.   1994 007;94(1):228-36
  • Loirat F, Lucotte G   [Frequency of the main mutation (delta F508) of cystic fibrosis in France: new results about 1656 unrelated families].   1996 012;3(12):1279-81
  • Loirat F, Lucotte G   [Prevalence of main mutation (delta F508) of mucoviscidosis in France: results on 2617 families in all regions].   1997 007;4(7):687-9
  • Lucidi V, Novelli G, Castro M, Sangiuolo F, Papadatou B, Ferretti F, Orru M, Dallapiccola B   [The correlation between the genotype and the clinical expression of cystic fibrosis].   1992 009-010;14(5):513-5
  • Lucotte G   [Decreased north-west/south-east gradient in geographical distribution in the principal mutation (delta F508) of mucoviscidosis in France].   1992 010;49(8):753-4
  • Lucotte G   [Repartition of frequency of main mutation (delta F508) in mucoviscidosis in France: results of multicenter study of 1030 unrelated families].   1995 006;2(6):600-1
  • Lucotte G, Barre E   Cystic fibrosis delta F508 mutation in a French population.   1991;290:371-2
  • Lucotte G, Barre E, Berriche S   Frequency of the cystic fibrosis mutation delta F508 in Algeria.   1991 010;87(6):759
  • Lucotte G, Hazout S, Loirat F   North-west/south-east gradient in delta F508 frequency in Europe.   1991 010 5;338(8771):882-3
  • Lucotte G, Perignon JL, Lenoir G   Transient neonatal hypertrypsinaemia as test for delta F508 heterozygosity.   1991 004 20;337(8747):988
  • Lukacs GL, Chang XB, Bear C, Kartner N, Mohamed A, Riordan JR, Grinstein S   The delta F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of functional half-lives on transfected cells.   1993 010 15;268(29):21592-8
  • Lukacs GL, Mohamed A, Kartner N, Chang XB, Riordan JR, Grinstein S   Conformational maturation of CFTR but not its mutant counterpart (delta F508) occurs in the endoplasmic reticulum and requires ATP.   1994 012 15;13(24):6076-86
  • Luna MC, Granados PA, Olek K, Pivetta OH   Cystic fibrosis in Argentina: the frequency of the delta F508 mutation.   1996 003;97(3):314
  • MacVinish LJ, Goddard C, Colledge WH, Higgins CF, Evans MJ, Cuthbert AW   Normalization of ion transport in murine cystic fibrosis nasal epithelium using gene transfer.   1997 008;273(2 Pt 1):C734-40
  • Macek M, Macek M, Stuhrmann M, Kulovany E, Dolanska M, Koukolik F, Boehm I, Hronkova J, Jezkova Z, Paulova M, et al   The direct early diagnosis of cystic fibrosis by the detection of the delta F508 CFTR gene mutation in a prematurely delivered boy.   1991 003;39(3):219-22
  • Macek M, Vavrova V, Boehm I, Stuhrmann M, Reis A, Macek M, Duspisova R, Jelinkova E, Sperling K, Krawczak M, et al   Frequency of the delta-F508 mutation and flanking marker haplotypes at the cystic fibrosis locus from 167 Czech families.   1991;290:373-5
  • Macek M, Vavrova V, Bohm I, Stuhrmann M, Reis A, Duspivova R, Macek M, Sperling K, Krawczak M, Schmidtke J   Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families.   1990 009;85(4):417-8
  • Mack DR, Traystman MD, Colombo JL, Sammut PH, Kaufman SS, Vanderhoof JA, Antonson DL, Markin RS, Shaw BW, Langnas AN   Clinical denouement and mutation analysis of patients with cystic fibrosis undergoing liver transplantation for biliary cirrhosis.   1995 012;127(6):881-7
  • Maherzi A, Ategbo S, Pharaon I, Munck A, Cezard JP, Foucaud P, Navarro J   [Nasal transepithelial difference of potential in mucoviscidosis. Clinical application of the measurement].   1995 003 4;24(9):437-40
  • Makowski GS, Aslanzadeh J, Hopfer SM   Mini-gel PAGE for enhanced resolution of polymerase chain reaction detection of delta F508 deletion in cystic fibrosis.   1993 010;39(10):2204-5
  • Makowski GS, Davis EL, Hopfer SM   The effect of storage on Guthrie cards: implications for deoxyribonucleic acid amplification.   1996 009-010;26(5):458-69
  • Makowski GS, Davis EL, Hopfer SM   Amplification of Guthrie card DNA: effect of guanidine thiocyanate on binding of natural whole blood PCR inhibitors.   1997;11(2):87-93
  • Makowski GS, Davis EL, Nadeau F, Hopfer SM   Polymerase chain reaction amplification of Guthrie card deoxyribonucleic acid: extraction of nucleic acid from filter matrices.   1998 007-008;28(4):254-9
  • Maldonado-Rodriguez R, Espinosa-Lara M, Calixto-Suarez A, Beattie WG, Beattie KL   Hybridization of glass-tethered oligonucleotide probes to target strands preannealed with labeled auxiliary oligonucleotides.   1999 002;11(1):1-12
  • Mansfield SG, Kole J, Puttaraju M, Yang CC, Garcia-Blanco MA, Cohn JA, Mitchell LG   Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing.   2000 011;7(22):1885-95
  • Marostica PJ, Raskin S, Abreu-e-Silva FA   Analysis of the delta F508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients.   1998 004;31(4):529-32
  • Marshall J, Fang S, Ostedgaard LS, O'Riordan CR, Ferrara D, Amara JF, Hoppe H, Scheule RK, Welsh MJ, Smith AE, et al   Stoichiometry of recombinant cystic fibrosis transmembrane conductance regulator in epithelial cells and its functional reconstitution into cells in vitro.   1994 001 28;269(4):2987-95
  • Martinelli RA, Arruda JC, Dwivedi P   Chemiluminescent hybridization-ligation assays for delta F508 and delta I507 cystic fibrosis mutations.   1996 001;42(1):14-8
  • Massie RJ, Olsen M, Glazner J, Robertson CF, Francis I   Newborn screening for cystic fibrosis in Victoria: 10 years' experience (1989-1998).   2000 006 19;172(12):584-7
  • Matson RS, Rampal J, Pentoney SL, Anderson PD, Coassin P   Biopolymer synthesis on polypropylene supports: oligonucleotide arrays.   1995 001 1;224(1):110-6
  • McCray PB, Reenstra WW, Louie E, Johnson J, Bettencourt JD, Bastacky J   Expression of CFTR and presence of cAMP-mediated fluid secretion in human fetal lung.   1992 004;262(4 Pt 1):L472-81
  • McIntosh I, Curtis A, Lorenzo ML, Keston M, Gilfillan AJ, Morris G, Brock DJ   The haplotype distribution of the delta F508 mutation in cystic fibrosis families in Scotland.   1990 009;85(4):419-20
  • McIntosh I, Lorenzo ML, Brock DJ   Frequency of delta F508 mutation on cystic fibrosis chromosomes in UK.   1989 012 9;2(8676):1404-5
  • McMahon CJ, Genet SA, Middleton-Price HR, Rutland P, Pembrey ME, Malcolm S   The major cystic fibrosis mutation in a British population.   1990 012;86(2):236-7
  • Meng QH, Springall DR, Bishop AE, Morgan K, Evans TJ, Habib S, Gruenert DC, Gyi KM, Hodson ME, Yacoub MH, Polak JM   Lack of inducible nitric oxide synthase in bronchial epithelium: a possible mechanism of susceptibility to infection in cystic fibrosis.   1998 003;184(3):323-31
  • Mennie M, Gilfillan A, Brock DJ, Liston WA   Heterozygotes for the delta F508 cystic fibrosis allele are not protected against bronchial asthma.   1995 010;1(10):978-9
  • Mercier B, Lissens W, Audrezet MP, Bonduelle M, Liebaers I, Ferec C   Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations.   1993;2(1):16-20
  • Mercier B, Raguenes O, Estivill X, Morral N, Kaplan GC, McClure M, Grebe TA, Kessler D, Pignatti PF, Marigo C, et al   Complete detection of mutations in cystic fibrosis patients of Native American origin.   1994 012;94(6):629-32
  • Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Audrezet MP, Ferec C   Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.   1995 001;56(1):272-7
  • Meschede D, Eigel A, Horst J, Nieschlag E   Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens.   1993 007;53(1):292-3
  • Mickle JE, Cutting GR   Genotype-phenotype relationships in cystic fibrosis.   2000 005;84(3):597-607
  • Midro AT, Kulczycki LL   New perspectives and hope for cure-reflecting recent genetic developments in cystic fibrosis.   1992 010-012;24(4):253-5
  • Midro AT, Kulczycki LL, Sledziewski A   [Gene therapy perspectives in cystic fibrosis].   1993;47(4):221-30
  • Miedzybrodzka ZH, Dean JC, Russell G, Friend JA, Kelly KF, Haites NE   Prevalence of cystic fibrosis mutations in the Grampian region of Scotland.   1993 004;30(4):316-7
  • Miedzybrodzka ZH, Kelly KF, Davidson M, Little S, Shrimpton AE, Dean JC, Haites NE   Prenatal diagnosis for the cystic fibrosis mutation 1717-1, G-->A using arms.   1992 010;12(10):845-9
  • Milla PJ   Cystic fibrosis: present and future.   1998 008;59(5):579-88
  • Miller DS, Letcher S, Barnes DM   Fluorescence imaging study of organic anion transport from renal proximal tubule cell to lumen.   1996 009;271(3 Pt 2):F508-20
  • Mitchell J, Scriver CR, Clow CL, Kaplan F   What young people think and do when the option for cystic fibrosis carrier testing is available.   1993 007;30(7):538-42
  • Mohon RT, Wagener JS, Abman SH, Seltzer WK, Accurso FJ   Relationship of genotype to early pulmonary function in infants with cystic fibrosis identified through neonatal screening.   1993 004;122(4):550-5
  • Morales-Machin A, Borjas-Fajardo L, Pineda-Del Villar L, Prieto-Carrasquero M, Gonzalez S, Gutierrez M, Delgado-Luengo W, Alvarez F, Barrera-Saldana H   [Prenatal molecular diagnosis of cystic fibrosis. Report of 3 cases].   1997 009;38(3):145-53
  • Mornet E, Chateau C, Simon-Bouy B, Boue J, Zielenski J, Tsui LC, Boue A   Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism.   1992 002;88(4):479-81
  • Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Gimenez J, Reis A, Varon-Mateeva R, Macek M, Kalaydjieva L, et al   The origin of the major cystic fibrosis mutation (delta F508) in European populations.   1994 006;7(2):169-75
  • Morral N, Dork T, Llevadot R, Dziadek V, Mercier B, Ferec C, Costes B, Girodon E, Zielenski J, Tsui LC, Tummler B, Estivill X   Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.   1996;8(2):149-59
  • Morral N, Nunes V, Casals T, Chillon M, Gimenez J, Bertranpetit J, Estivill X   Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.   1993 007;2(7):1015-22
  • Morral N, Nunes V, Casals T, Cobos N, Asensio O, Dapena J, Estivill X   Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion.   1993 006;2(6):677-81
  • Morral N, Nunes V, Casals T, Estivill X   CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.   1991 007;10(3):692-8
  • Morris MR, Pereira MM, Hallett MB, McPherson MA, Dormer RL   Cellular localisation of the most common mutant form of the CF gene protein, delta F508-CFTR.   1998 008;26(3):S293
  • Mortensen J, Hansen A, Falk M, Nielsen IK, Groth S   Reduced effect of inhaled beta 2-adrenergic agonists on lung mucociliary clearance in patients with cystic fibrosis.   1993 003;103(3):805-11
  • Moss RB, Bocian RC, Hsu YP, Dong YJ, Kemna M, Wei T, Gardner P   Reduced IL-10 secretion by CD4+ T lymphocytes expressing mutant cystic fibrosis transmembrane conductance regulator (CFTR).   1996 011;106(2):374-88
  • Moullier P, Jehanne M, Audrezet MP, Mercier B, Verlingue C, Quere I, Guillermit H, Raguenes O, Storni V, Rault G, et al   Association of 1078 del T cystic fibrosis mutation with severe disease.   1994 002;31(2):159-61
  • Moutou C, Viville S   Improvement of preimplantation genetic diagnosis (PGD) for the cystic fibrosis mutation delta F508 by fluorescent polymerase chain reaction.   1999 012;19(13):1248-50
  • Nasr SZ, Strong TV, Collins FS   Identification of a CFTR frameshift mutation (1013 delAA) in trans to delta F508 in a pancreatic sufficient cystic fibrosis patient.   1994 011;3(11):2063-4
  • Nelson PV, Carey WF, Morris CP   Identification of a cystic fibrosis mutation: deletion of isoleucine506.   1991 002;86(4):391-3
  • Nelson PV, Carey WF, Morris CP, Pollard AC   The frequency of the common (delta F508) cystic fibrosis mutation in the Australian population.   1990 003 19;152(6):328
  • Nemeth K, Holics K, Ujhelyi R, Varadi A, Fekete G   [Analysis of five mutations of cystic fibrosis occurring in the Hungarian population].   1996 004 28;137(17):899-903
  • Nemeti M, Johnson JP, Papp Z, Louie E   The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients.   1992 005;89(2):245-6
  • Nemeti M, Louie E, Papp Z, Johnson JP   Molecular analysis of cystic fibrosis in the Hungarian population.   1991 008;87(4):511-2
  • Newton CR, Schwarz M, Summers C, Heptinstall LE, Graham A, Smith JC, Super M, Markham AF   Detection of delta F508 deletion by amplification refractory mutation system.   1990 005 19;335(8699):1217-9
  • Ng IS, Pace R, Richard MV, Kobayashi K, Kerem B, Tsui LC, Beaudet AL   Methods for analysis of multiple cystic fibrosis mutations.   1991 009;87(5):613-7
  • Nickerson DA, Kaiser R, Lappin S, Stewart J, Hood L, Landegren U   Automated DNA diagnostics using an ELISA-based oligonucleotide ligation assay.   1990 011;87(22):8923-7
  • Norgaard-Pedersen B, Hogdall EV, Arends J, Vuust J   [Screening of newborn infants for cystic fibrosis. A combined analysis of immunoreactive trypsin and delta F508 mutation--a screening without false positive results].   1994 006 20;156(25):3757-60
  • Novelli G, Gasparini P, Savoia A, Pignatti PF, Sangiuolo F, Dallapiccola B   Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families.   1990 009;85(4):420-1
  • Novelli G, Sangiuolo F, Dallapiccola B, Gasparini P, Savoia A, Pignatti PF, Fernandez E, Benitez J, Casals T, Nunes V, et al   Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.   1990 006;10(6):413-4
  • Novelli G, Sangiuolo F, Mokini V, Cikuli M, Piazza A, Dallapiccola B   The cystic fibrosis delta F508 mutation in the Albanian population.   1992 004;50(4):875-6
  • Nowakowska A, Bal J, Obersztyn E, Sands D, Maciejko D, Mazurczak T   [A study evaluating the correlation between the phenotype and genotype among 65 cystic fibrosis patients].   1995 008;70(8):633-8
  • Nunes V, Casals T, Gaona A, Antinolo G, Ferrer-Calvete J, Perez-Frias J, Tardio E, Molano J, Estivill X   Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.   1992;1(5):375-9
  • Nunes V, Gasparini P, Novelli G, Gaona A, Bonizzato A, Sangiuolo F, Balassopoulou A, Gimenez FJ, Dognini M, Ravnik-Glavac M, et al   Analysis of 14 cystic fibrosis mutations in five south European populations.   1991 010;87(6):737-8
  • O'Rawe A, McIntosh I, Dodge JA, Brock DJ, Redmond AO, Ward R, Macpherson AJ   Increased energy expenditure in cystic fibrosis is associated with specific mutations.   1992 001;82(1):71-6
  • Oates RD, Amos JA   Congenital bilateral absence of the vas deferens and cystic fibrosis. A genetic commonality.   1993;11(2):82-8
  • Ober C, Lester LA, Mott C, Billstrand C, Lemke A, van der Ven K, Marcus S, Kraut J, Lloyd-Still J, Booth C   Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families.   1992 012;51(6):1344-8
  • Ohrui T, Skach W, Thompson M, Matsumoto-Pon J, Calayag C, Widdicombe JH   Radiotracer studies of cystic fibrosis transmembrane conductance regulator expressed in Xenopus oocytes.   1994 006;266(6 Pt 1):C1586-93
  • Orozco L, Friedman K, Chavez M, Lezana JL, Villarreal MT, Carnevale A   Identification of the I507 deletion by site-directed mutagenesis.   1994 006 1;51(2):137-9
  • Orozco L, Lezana JL, Chavez M, Valdez H, Moreno M, Carnevale A   [A molecular study of the delta-F508 mutation and genetic analysis of a sample of cystic fibrosis patients].   1993 007;50(7):457-62
  • Orozco L, Lezana JL, Villarreal MT, Chavez M, Carnevale A   Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings.   1995 002;47(2):96-8
  • Orozco L, Salcedo M, Lezana JL, Chavez M, Valdez H, Moreno M, Carnevale A   Frequency of delta F508 in a Mexican sample of cystic fibrosis patients.   1993 006;30(6):501-2
  • Osborne L, Santis G, Schwarz M, Klinger K, Dork T, McIntosh I, Schwartz M, Nunes V, Macek M, Reiss J, et al   Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.   1992 008;89(6):653-8
  • Ozcelik U, Gocmen A, Kiper N, Coskun T, Yilmaz E, Ozguc M   Sodium chloride deficiency in cystic fibrosis patients.   1994 011;153(11):829-31
  • Ozguc M, Tekin A, Erdem H, Yilmaz E, Ayter S, Coskun T, Can A, Gogus S, Caglar M, Kale G, et al   Analysis of delta F508 mutation in cystic fibrosis pathology specimens.   1994 005-006;14(3):491-6
  • Ozguc M, Yilmaz E, Erdem H, Coskun T, Ozcelik U, Togan I, Gocmen A, Ayter S, Ozalp I   Allele frequencies of Mp6D-9 and GATT markers in 32 Turkish cystic fibrosis families.   1994 005;45(5):266-8
  • Paddon C, Loayza D, Vangelista L, Solari R, Michaelis S   Analysis of the localization of STE6/CFTR chimeras in a Saccharomyces cerevisiae model for the cystic fibrosis defect CFTR delta F508.   1996 003;19(5):1007-17
  • Padua RA, Warren N, Grimshaw D, Smith M, Lewis C, Whittaker J, Laidler P, Wright P, Douglas-Jones A, Fenaux P, Sharma A, Horgan K, West R   The cystic fibrosis delta F508 gene mutation and cancer.   1997;10(1):45-8
  • Palacios J, Ezquieta B, Gamallo C, Limeres MA, Benito N, Rodriguez JI, Molano J   Detection of delta F508 cystic fibrosis mutation by polymerase chain reaction from old paraffin-embedded tissues: a retrospective autopsy study.   1994 004;7(3):392-5
  • Parker RA, Phillips JA   Population screening for carrier status: effects of test limitations on precision of carrier prevalence rates.   1994 002 1;49(3):317-22
  • Pasyk EA, Foskett JK   Mutant (delta F508) cystic fibrosis transmembrane conductance regulator Cl- channel is functional when retained in endoplasmic reticulum of mammalian cells.   1995 005 26;270(21):12347-50
  • Pauer HU, Hinney B, Michelmann HW, Krasemann EW, Zoll B, Engel W   Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection.   1997 009;12(9):1909-12
  • Peral B, Hernandez-Chico C, San Millan JL, Granell R, Molano J, Carrasco S, Telleria JJ, Devoto M, Moreno F   The delta F508 mutation and RFLP-linked loci in Spanish cystic fibrosis families.   1991 008;87(4):516-7
  • Perez-Aguilar F, Ferrer-Calvete J, Nicolas D, Berenguer J, Ponce J   [Digestive alterations in cystic fibrosis. Retrospective study of a series of 46 adult patients].   1999 002;22(2):72-8
  • Pescatore P, Marteau P, Lemiere E, Xerri B, Denamur E, Elion J, Matuchansky C, Rambaud JC   [Mucoviscidosis discovered after the age of 25 years. Review and follow-up of cases of the literature].   1994;18(3):195-9
  • Petreska L, Plaseska D, Koceva S, Stavljenic-Rukavina A, Efremov GD   Two new mutations (1811 + 1G-->C and Y569C) identified in the CFTR gene in patients of Macedonian and Croatian origin.   1996;50(3):125-7
  • Petrova NV, Ginter EK   [Determination of the frequency of the deltaF508 mutation among newborns in the city of Moscow and evaluation of the frequency of cystic fibrosis in the European part of Russia].   1997 009;33(9):1326-8
  • Petrova NV, Ginter EK, Kapranov NI, El'chinova GI   [Portion of certain cystic fibrosis gene mutations and linkage dysequilibrium between the CFTR-gene locus and two DNA marker loci in Russian populations].   1994 007;30(7):974-7
  • Petrova NV, Kapranov NI, Ginter EK   [Detection of frequent mutations of the CFTR gene in cystic fibrosis patients from Central Russia].   1997 001;33(1):106-9
  • Petty EM, Gold E, Bale AE   DNA diagnosis with mutation-specific artificial methylation sites: application to rapid screening of delta F508.   1992 012;38(12):2422-5
  • Phillips IJ, Rowe DJ, Dewar P, Connett GJ   Faecal elastase 1: a marker of exocrine pancreatic insufficiency in cystic fibrosis.   1999 011;36 ( Pt 6):739-42
  • Phillips OP, Bishop C, Woods D, Elias S   Cystic fibrosis mutations among African Americans in the southeastern United States.   1995 006;87(6):433-5
  • Phillips OP, Elias S, Woods D, Hanissian AS, Schoumacher RA, Bishop C   Cystic fibrosis mutations in white and black Americans: an approach to identification of unknown mutations with implications for cystic fibrosis screening.   1993 004;168(4):1076-82
  • Picard J, Lemnaouar M, Paul A   [Cellular expression of CFTR in cystic fibrosis: defective cyclic AMP-dependent regulation of glycoconjugate secretion in cystic fibrosis fetal tracheal epithelial cells transfected by SV40 large T oncogene].   1993 003;177(3):383-93; discussion 393-4
  • Picci L, Anglani F, Scarpa M, Zacchello F   Screening for cystic fibrosis gene mutations by multiplex DNA amplification.   1992 003;88(5):552-6
  • Pier GB, Grout M, Zaidi TS, Goldberg JB   How mutant CFTR may contribute to Pseudomonas aeruginosa infection in cystic fibrosis.   1996 010;154(4 Pt 2):S175-82
  • Pier GB, Grout M, Zaidi TS, Olsen JC, Johnson LG, Yankaskas JR, Goldberg JB   Role of mutant CFTR in hypersusceptibility of cystic fibrosis patients to lung infections.   1996 001 5;271(5245):64-7
  • Pignatti PF, Bombieri C, Marigo C, Benetazzo M, Luisetti M   Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.   1995 004;4(4):635-9
  • Pind S, Riordan JR, Williams DB   Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator.   1994 004 29;269(17):12784-8
  • Plaha DS, Linforth GH, Duckett DP, Scott-Jupp R, Tanner MS, Jeffreys AJ   Three-base pair resolution of DNA fragments on agarose: application to delta F508 analysis in cystic fibrosis.   1993 004;14(4):566-7
  • Plieth J, Rininsland F, Schlosser M, Cooper DN, Reiss J   Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-delta F508 mutations in German cystic fibrosis patients.   1992 001;88(3):283-7
  • Poller W, Faber JP, Scholz S, Olek K, Muller KM   Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease. Application in the identification of a cystic fibrosis patient with atypical clinical course.   1991 009 16;69(14):657-63
  • Pollitt RJ, Dalton A, Evans S, Hughes HN, Curtis D   Neonatal screening for cystic fibrosis in the Trent region (UK): two-stage immunoreactive trypsin screening compared with a three-stage protocol with DNA analysis as an intermediate step.   1997;4(1):23-8
  • Porcelli AM, Ghelli A, Mastrocola T, Rugolo M   Arachidonic acid release by ionomycin and phorbol ester is similar in C127 epithelial cells expressing wild-type or mutated (delta F508) cystic fibrosis transmembrane conductance regulator.   1999 010 1;56(1-2):167-73
  • Poulsen JH, Fischer H, Illek B, Machen TE   Bicarbonate conductance and pH regulatory capability of cystic fibrosis transmembrane conductance regulator.   1994 006 7;91(12):5340-4
  • Qu BH, Strickland E, Thomas PJ   Cystic fibrosis: a disease of altered protein folding.   1997 010;29(5):483-90
  • Queizan A, Palacios J, Limeres MD, Vallejo D, Gamallo C, Molano J   [A retrospective study of delta F508 mutation in 22 patients operated on for meconium ileus].   1995 004;8(2):81-4
  • Ranieri E, Lewis BD, Gerace RL, Ryall RG, Morris CP, Nelson PV, Carey WF, Robertson EF   Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience.   1994 006 4;308(6942):1469-72
  • Raskin S, Phillips JA, Kaplan G, McClure M, Vnencak-Jones C   Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots.   1992 011;2(2):154-6
  • Raskin S, Phillips JA, Krishnamani MR, Vnencak-Jones C, Parker RA, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R, et al   DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards.   1993 007 1;46(6):665-9
  • Ratcliff R, Evans MJ, Doran J, Wainwright BJ, Williamson R, Colledge WH   Disruption of the cystic fibrosis transmembrane conductance regulator gene in embryonic stem cells by gene targeting.   1992 007;1(4):177-81
  • Ravnik-Glavac M, Gasparini P, Peterlin B, Strukelj M, Glavac D, Canki-Klain N, Pignatti PF, Komel R   Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population.   1992;35(2):85-8
  • Ravnik-Glavac M, Glavac D, Komel R, Dean M   Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations.   1993;2(4):286-92
  • Ray PF, Ao A, Taylor DM, Winston RM, Handyside AH   Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the delta F508 deletion causing cystic fibrosis in clinical practice.   1998 012;18(13):1402-12
  • Ray PF, Handyside AH   Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis.   1996 003;2(3):213-8
  • Ray PF, Winston RM, Handyside AH   Reduced allele dropout in single-cell analysis for preimplantation genetic diagnosis of cystic fibrosis.   1996 002;13(2):104-6
  • Rebello MT, Hackett G, Smith J, Loeffler FE, Robson S, MacLachlan N, Beard RW, Rodeck CH, Williamson R, Coleman DV, et al   Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease.   1991 001;11(1):41-6
  • Reis A, Bremer S, Schlosser M, Dueck M, Bohm I, Hundrieser J, Macek M, Stuhrmann M, Wagner M, Dork T, et al   Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population.   1990 009;85(4):421-2
  • Reiss J, Cooper DN, Bal J, Slomski R, Cutting GR, Krawczak M   Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.   1991 008;87(4):457-61
  • Reiss J, Lenz U, Rininsland F, Ballhausen P, Drews D, Posselt HG   A novel CFTR mutation, 4035delA, detected by non-radioactive SSCP analysis.   1992 011;90(3):303-4
  • Rendine S, Calafell F, Cappello N, Gagliardini R, Caramia G, Rigillo N, Silvetti M, Zanda M, Miano A, Battistini F, Marianelli L, Taccetti G, Diana MC, Romano L, Romano C, Giunta A, Padoan R, Pianaroli A, Raia V, De Ritis G, Battistini A, Grzincich G, Japichino L, Pardo F, Piazza A, et al   Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution.   1997 009;61 ( Pt 5):411-24
  • Restagno G, Garnerone S, Gennaro C, Ferrone M, Carbonara A   Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families.   1992 012;42(6):309-13
  • Restagno G, Garnerone S, Gennaro C, Varetto O, Ansaldi N, Castello D, Santini B, Carbonara AO   delta F508 deletion in cystic fibrosis in Italian families.   1990 009;85(4):422-3
  • Rich DP, Anderson MP, Gregory RJ, Cheng SH, Paul S, Jefferson DM, McCann JD, Klinger KW, Smith AE, Welsh MJ   Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells.   1990 009 27;347(6291):358-63
  • Rohlfs EM, Shaheen NJ, Silverman LM   Is the hemochromatosis gene a modifier locus for cystic fibrosis?   1998;2(1):85-8
  • Rojas-Martinez A, Vazquez-Aleman RM, Gustincich S, Cantu JM, Barrera-Saldana HA   [The molecular genetics of cystic fibrosis: the delta F508 allele in Mexican families].   1992 006;49(6):335-41
  • Rommens JM, Dho S, Bear CE, Kartner N, Kennedy D, Riordan JR, Tsui LC, Foskett JK   cAMP-inducible chloride conductance in mouse fibroblast lines stably expressing the human cystic fibrosis transmembrane conductance regulator.   1991 009 1;88(17):7500-4
  • Ronchetto P, Devoto M, Puliti A, Romeo G, Sokolov B, Kalinin VN, Vorsanova SG, Krainiaia GV, Reznik BY   Preliminary results on the frequency of the delta F508 mutation in cystic fibrosis patients from the USSR.   1990 009;85(4):423-4
  • Rosenecker J, Eichler I, Kuhn L, Harms HK, von der Hardt H   Genetic determination of diabetes mellitus in patients with cystic fibrosis. Multicenter Cystic Fibrosis Study Group.   1995 009;127(3):441-3
  • Rotoli BM, Bussolati O, Dall' Asta V, Hoffmann EK, Cabrini G, Gazzola GC   CFTR expression in C127 cells is associated with enhanced cell shrinkage and ATP extrusion in Cl(-)-free medium.   1996 010 23;227(3):755-61
  • Rotoli BM, Bussolati O, Sironi M, Cabrini G, Gazzola GC   CFTR protein is involved in the efflux of neutral amino acids.   1994 010 28;204(2):653-8
  • Rozen R, De Braekeleer M, Daigneault J, Ferreira-Rajabi L, Gerdes M, Lamoureux L, Aubin G, Simard F, Fujiwara TM, Morgan K   Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.   1992 002 1;42(3):360-4
  • Rozen R, Schwartz RH, Hilman BC, Stanislovitis P, Horn GT, Klinger K, Daigneault J, De Braekeleer M, Kerem B, Tsui L, et al   Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families.   1990 010;47(4):606-10
  • Rubenstein RC, Egan ME, Zeitlin PL   In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR.   1997 011 15;100(10):2457-65
  • Rubio-Gonzalez T, Alvarez-Valiente H   [Neurofibromatosis and cystic fibrosis: a case report].   1999 010 1-15;29(7):604-6
  • Rush PW, Vats S, Allitto BA, Qureshi F, Feldman GL   Fetal echogenic bowel and a dilated loop of bowel associated with cystic fibrosis (CF) mutations delta F508 and 2183AA-->G.   1998 006;18(6):638-40
  • Russo MP, Romeo G, Devoto M, Barbujani G, Cabrini G, Giunta A, D'Alcamo E, Leoni G, Sangiuolo F, Magnani C, et al   Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.   1995;5(1):23-7
  • Salcedo M, Chavez M, Ridaura C, Moreno M, Lezana JL, Orozco L   Detection of the cystic fibrosis delta-F508 mutation at autopsy by site-directed mutagenesis.   1993 005 15;46(3):268-70
  • Saleh MC, Botelli A, Melano de Botelli M, Rezzonico CA, Argarana CE   Cystic fibrosis: frequency of delta f508 and g542x mutations in Cordoba, Argentina.   1996;56(1):14-6
  • Sangiuolo F, Maceratesi P, Mesoraca A, Botta A, Cavicchini A, Novelli G, Dallapiccola B   Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay.   1995;25(3):142-5
  • Santamaria F, Salvatore D, Castiglione O, Raia V, de Ritis G, Sebastio G   Lung involvement, the delta F508 mutation and DNA haplotype analysis in cystic fibrosis.   1992 003;88(6):639-41
  • Santis G, Osborne L, Knight R, Ramsay M, Williamson R, Hodson M   Cystic fibrosis haplotype association and the delta F508 mutation in adult British CF patients.   1990 009;85(4):424-5
  • Santis G, Osborne L, Knight RA, Hodson ME   Linked marker haplotypes and the delta F508 mutation in adults with mild pulmonary disease and cystic fibrosis.   1990 006 16;335(8703):1426-9
  • Sato S, Ward CL, Krouse ME, Wine JJ, Kopito RR   Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.   1996 001 12;271(2):635-8
  • Sazonova MA, Amosenko FA, Kapranov NI, Kalinin VN   [Molecular genetic analysis of TUB18 and TUB20 intragenic polymorphism and various mutations of the CFTR gene in the Moscow region].   1997 009;33(9):1303-7
  • Schaaff F, Wedemann H, Schwinger E   Analysis of sex and delta F508 in single amniocytes using primer extension preamplification.   1996 008;98(2):158-61
  • Scheffer H, Bruinvels DJ, te Meerman GJ, Verlind E, Penninga D, Dankert J, Ten Kate LP, Buys CH   Frequency of the delta F508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without delta F508 still in disequilibrium.   1990 009;85(4):425-7
  • Scheurlen W, Jeschke R, Kreth HW   [Specific gene deletion in patients with cystic fibrosis: pilot study of a small patient cohort].   1991;30(4):275-81
  • Schroeder SA, Gaughan DM, Swift M   Protection against bronchial asthma by CFTR delta F508 mutation: a heterozygote advantage in cystic fibrosis.   1995 007;1(7):703-5
  • Schwartz M   [Cystic fibrosis. From clinical diagnosis to a mutation specific test].   1993 002 1;155(5):292-5
  • Schwartz M, Brandt NJ, Koch C, Lanng S, Schiotz PO   Genetic analysis of cystic fibrosis in Denmark. Implications for genetic counselling, carrier diagnosis and prenatal diagnosis.   1992 006-007;81(6-7):522-6
  • Schwartz M, Brandt NJ, Skovby F   Screening for carriers of cystic fibrosis among pregnant women: a pilot study.   1993;1(3):239-44
  • Schwartz M, Johansen HK, Koch C, Brandt NJ   Frequency of the delta F508 mutation on cystic fibrosis chromosomes in Denmark.   1990 009;85(4):427-8
  • Schwartz M, Sorensen N, Brandt NJ, Hogdall E, Holm T   High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study.   1995 006;95(6):703-6
  • Schwarz M, Summers C, Heptinstall L, Newton C, Markham A, Super M   A deletion mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) locus: Delta I507.   1991;290:393-8
  • Schwarz MJ, Malone GM, Haworth A, Cheadle JP, Meredith AL, Gardner A, Sawyer IH, Connarty M, Dennis N, Seller A, et al   Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories.   1995;6(4):326-33
  • Schwarz MJ, Super M, Wallis C, Beighton P, Newton C, Heptinstall LE, Summers C, Markham A, Hambleton G, Webb KW, et al   Delta F508 testing of the DNA bank of the Royal Manchester Children's Hospital.   1990 009;85(4):428-30
  • Schwiebert EM, Flotte T, Cutting GR, Guggino WB   Both CFTR and outwardly rectifying chloride channels contribute to cAMP-stimulated whole cell chloride currents.   1994 005;266(5 Pt 1):C1464-77
  • Schwiebert EM, Gesek F, Ercolani L, Wjasow C, Gruenert DC, Karlson K, Stanton BA   Heterotrimeric G proteins, vesicle trafficking, and CFTR Cl- channels.   1994 007;267(1 Pt 1):C272-81
  • Scobie G, Woodroffe B, Fishel S, Kalsheker N   Identification of the five most common cystic fibrosis mutations in single cells using a rapid and specific differential amplification system.   1996 003;2(3):203-7
  • Sebastio G, Castiglione O, Incerti B, Salvatore D, Santamaria F   The delta F508 mutation in cystic fibrosis patients of southern Italy.   1990 009;85(4):430-1
  • Seltzer WK, Accurso F, Fall MZ, VanRiper AJ, Descartes M, Huang Y, McCabe ER   Screening for cystic fibrosis: feasibility of molecular genetic analysis of dried blood specimens.   1991 008;46(1):105-9
  • Sepulveda W, Leung KY, Robertson ME, Kay E, Mayall ES, Fisk NM   Prevalence of cystic fibrosis mutations in pregnancies with fetal echogenic bowel.   1996 001;87(1):103-6
  • Sereth H, Shoshani T, Bashan N, Kerem BS   Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis.   1993 010 1;92(3):289-95
  • Serre JL, Taillandier A, Mornet E, Simon-Bouy B, Boue J, Boue A   Nearly 80% of cystic fibrosis heterozygotes and 64% of couples at risk may be detected through a unique screening of four mutations by ASO reverse dot blot.   1991 012;11(4):1149-51
  • Sheppard DN, Carson MR, Ostedgaard LS, Denning GM, Welsh MJ   Expression of cystic fibrosis transmembrane conductance regulator in a model epithelium.   1994 004;266(4 Pt 1):L405-13
  • Sheppard DN, Ostedgaard LS, Winter MC, Welsh MJ   Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency.   1995 003 1;14(5):876-83
  • Sherry AM, Cuppoletti J, Malinowska DH   Differential acidic pH sensitivity of delta F508 CFTR Cl- channel activity in lipid bilayers.   1994 003;266(3 Pt 1):C870-5
  • Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, et al   Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease.   1992 001;50(1):222-8
  • Shoshani T, Kerem E, Szeinberg A, Augarten A, Yahav Y, Cohen D, Rivlin J, Tal A, Kerem B   Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.   1994 004;93(4):1502-7
  • Shrimpton AE, McIntosh I, Brock DJ   The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.   1991 005;28(5):317-21
  • Silber SJ   The use of epididymal sperm for the treatment of male infertility.   1997 012;11(4):739-52
  • Silva P, Hallac R, Spokes K, Epstein FH   Relationship among gluconeogenesis, QO2, and Na+ transport in the perfused rat kidney.   1982 005;242(5):F508-13
  • Simon-Bouy B, Mornet E, Serre JL, Taillandier A, Boue J, Boue A   The cystic fibrosis delta F508 mutation in the French population.   1990 009;85(4):431-2
  • Simon-Bouy B, Mornet E, Serre JL, Taillandier A, Boue J, Boue A   Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients.   1991 009;40(3):218-24
  • Simon-Bouy B, Mornet E, Taillandier A, Serre JL, Boue J, Boue A   The delta F508 mutation in mild adult forms of cystic fibrosis (CF).   1991 004;39(4):304-5
  • Simova L, Williams C, Efremov GD, Gordova-Muratovska A, Sustic S, Watson EK, Williamson R   delta F508 frequency and associated haplotypes near the cystic fibrosis locus in the Yugoslav population.   1990 009;85(4):432-3
  • Simpson JL   Screening for fetal and genetic abnormalities.   1991 009;5(3):675-96
  • Siret D, Branger B, Storni V, Bretaudeau G, Dagorne M, Moisan-Petit V, David V, Picherot G, Rault G, Roussey M   [Does neonatal screening of cystic fibrosis affect outcome? Comparative study of two cohorts in Britanny and Loire-Atlantique with follow-up after ten years].   2000 011;7(11):1154-62
  • Skogerboe KJ, West SF, Murillo MD, Tait JF   Development and evaluation of a simplified dot-blot method for detecting the delta F508 mutation in cystic fibrosis.   1990 011;36(11):1984-6
  • Smith DL, Stableforth DE, Cushley M   Chronic bronchial secretion in delta F508 heterozygote for cystic fibrosis.   1991 001 26;337(8735):234
  • Sobczynska-Tomaszewska A, Wolski JK, Bal J     2000;53(11-12):644-51
  • Southern KW   delta F508 in cystic fibrosis: willing but not able.   1997 003;76(3):278-82
  • Spence WC, Paulus-Thomas J, Orenstein DM, Naylor EW   Neonatal screening for cystic fibrosis: addition of molecular diagnostics to increase specificity.   1993 004;49(2):200-11
  • Spencer DA, Venkataraman M, Higgins S, Stevenson K, Weller PH   Cystic fibrosis in children from ethnic minorities in the West Midlands.   1994 010;88(9):671-5
  • Stankovics J, Melegh B, Kosztolanyi G   [Delta-F508 screening of infants at the Perinatal Intensive Care Center of the city if Pecs].   1996 011 3;137(44):2451-3
  • Stanton BA   Cystic fibrosis transmembrane conductance regulator (CFTR) and renal function.   1997 006 27;109(12-13):457-64
  • Stern HJ, Carlos RD, Schutzbank TE   Rapid detection of the delta F508 deletion in cystic fibrosis by allele specific PCR and electrochemiluminescent detection.   1995 008;28(4):470-3
  • Stern M, Munkonge FM, Caplen NJ, Sorgi F, Huang L, Geddes DM, Alton EW   Quantitative fluorescence measurements of chloride secretion in native airway epithelium from CF and non-CF subjects.   1995 012;2(10):766-74
  • Stern RC, Doershuk CF, Drumm ML   3849+10 kb C-->T mutation and disease severity in cystic fibrosis.   1995 007 29;346(8970):274-6
  • Stewart B, Zabner J, Shuber AP, Welsh MJ, McCray PB   Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis.   1995 003;151(3 Pt 1):899-903
  • Strand JC, Edwards BS, Anderson ME, Romero JC, Knox FG   Effect of imidazole on renal function in unilateral ureteral-obstructed rat kidneys.   1981 006;240(6):F508-14
  • Strom CM, Rechitsky S, Wolf G, Verlinsky Y   Reliability of polymerase chain reaction (PCR) analysis of single cells for preimplantation genetic diagnosis.   1994 002;11(2):55-62
  • Super M   Milestones in cystic fibrosis.   1992 010;48(4):717-37
  • Szczypka MS, Wemmie JA, Moye-Rowley WS, Thiele DJ   A yeast metal resistance protein similar to human cystic fibrosis transmembrane conductance regulator (CFTR) and multidrug resistance-associated protein.   1994 009 9;269(36):22853-7
  • Tanaka K, Gregersen N, Ribes A, Kim J, Kolvraa S, Winter V, Eiberg H, Martinez G, Deufel T, Leifert B, Santer R, Francois B, Pronicka E, Laszlo A, Kmoch S, Kremensky I, Kalaydjicva L, Ozalp I, Ito M   A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.   1997 002;41(2):201-9
  • Tata F, Stanier P, Wicking C, Halford S, Kruyer H, Lench NJ, Scambler PJ, Hansen C, Braman JC, Williamson R, et al   Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.   1991 006;10(2):301-7
  • Taylor GR, Noble JS, Mueller RF   Automated analysis of multiplex microsatellites.   1994 012;31(12):937-43
  • Teem JL, Berger HA, Ostedgaard LS, Rich DP, Tsui LC, Welsh MJ   Identification of revertants for the cystic fibrosis delta F508 mutation using STE6-CFTR chimeras in yeast.   1993 004 23;73(2):335-46
  • Teem JL, Carson MR, Welsh MJ   Mutation of R555 in CFTR-delta F508 enhances function and partially corrects defective processing.   1996;4(1):63-72
  • Telleria JJ, Alonso MJ, Calvo C, Alonso M, Blanco A   Spectrum of CFTR mutations in the Middle North of Spain and identification of a novel mutation (1341G-->A). Mutation in brief no. 252. Online.   1999;14(1):89
  • Thiele IE, Hug MJ, Hubner M, Greger R   Expression of cystic fibrosis transmembrane conductance regulator alters the responses to hypotonic cell swelling and ATP of Chinese hamster ovary cells.   1998;8(1-2):61-74
  • Thomas PJ, Ko YH, Pedersen PL   Altered protein folding may be the molecular basis of most cases of cystic fibrosis.   1992 011 2;312(1):7-9
  • Thomas PJ, Pedersen PL   Effects of the delta F508 mutation on the structure, function, and folding of the first nucleotide-binding domain of CFTR.   1993 002;25(1):11-9
  • Thomson DM, Brown NN, Clague AE   Routine use of hair root or buccal swab specimens for PCR analysis: advantages over using blood.   1992 005 15;207(3):169-74
  • Thomson MA, Wilmott RW, Wainwright C, Masters B, Francis PJ, Shepherd RW   Resting energy expenditure, pulmonary inflammation, and genotype in the early course of cystic fibrosis.   1996 009;129(3):367-73
  • Tomezsko JL, Stallings VA, Kawchak DA, Goin JE, Diamond G, Scanlin TF   Energy expenditure and genotype of children with cystic fibrosis.   1994 004;35(4 Pt 1):451-60
  • Traystman MD, Schulte N, Colombo JL, Sammut PH, Reilly P, Patel C, Acquazzino D, Simanek B, Anderson R, Kimberling WJ, et al   Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center.   1993;2(1):7-15
  • Traystman MD, Schulte NA, MacDonald M, Anderson JR, Sanger WG   Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska Genetic Semen Bank.   1994;4(4):271-5
  • Tsai YH   Cost-effective one-step PCR amplification of cystic fibrosis delta F508 fragment in a single cell for preimplantation genetic diagnosis.   1999 011;19(11):1048-51
  • Tsongalis GJ, Faber G, Dalldorf FG, Friedman KJ, Silverman LM, Yankaskas JR   Association of pancreatic adenocarcinoma, mild lung disease, and delta F508 mutation in a cystic fibrosis patient.   1994 010;40(10):1972-4
  • Tsui LC   The cystic fibrosis transmembrane conductance regulator gene.   1995 003;151(3 Pt 2):S47-53
  • Tummler B, Dork T, Kubesch P, Fislage R, Kalin N, Neumann T, Wulbrand U, Wulf B, Steinkamp G, von der Hardt H   Cystic fibrosis: the impact of analytical technology for genotype-phenotype studies.   1993 007 30;217(1):23-8
  • Tummler B, Storrs T, Dziadek V, Dork T, Meitinger T, Golla A, Bertele-Harms RM, Harms HK, Schroder E, Claass A, Rutjes J, Schneppenheim R, Bauer I, Breuel K, Stuhrmann M, Schmidtke J, Lindner M, Eigel A, Horst J, Kaiser R, Lentze MJ, Schmidt K, von der Hardt H, Estivill X   Geographic distribution and origin of CFTR mutations in Germany.   1996 006;97(6):727-31
  • Turner G, Meagher W, Willis C, Colley P   Cascade testing for carrier status in cystic fibrosis in a large family.   1993 008 2;159(3):163-5
  • Van Dyke RW, Root KV, Schreiber JH, Wilson JM   Role of CFTR in lysosome acidification.   1992 004 15;184(1):300-5
  • Varon R, Stuhrmann M, Macek M, Kufardjieva A, Angelicheva D, Magdorf K, Jordanova A, Savov A, Wahn U, Macek M, et al   Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.   1995;6(3):219-25
  • Vazquez C, Antinolo G, Casals T, Dapena J, Elorz J, Seculi JL, Sirvent J, Cabanas R, Soler C, Estivill X   Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.   1996 010;33(10):820-2
  • Venuta A, Bertolani P, Casarini R, Ferrari F, Guaraldi N, Garetti E   [Coexistence of cystic fibrosis and celiac disease. Description of a clinical case and review of the literature].   1999 009-010;21(5 Suppl):223-6
  • Verlingue C, Kapranov NI, Mercier B, Ginter EK, Petrova NV, Audrezet MP, Ferec C   Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.   1995;5(3):205-9
  • Verlinsky Y, Rechitsky S, Evsikov S, White M, Cieslak J, Lifchez A, Valle J, Moise J, Strom CM   Preconception and preimplantation diagnosis for cystic fibrosis.   1992 002;12(2):103-10
  • Vidaud M, Fanen P, Martin J, Ghanem N, Nicolas S, Goossens M   Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.   1990 009;85(4):446-9
  • Vidaud M, Ferec C, Attree O, Pascal O, Guillermit H, Ghanem N, Martin J, Moisan JP, Feingold J, Goossens M   Frequency of the cystic fibrosis delta F508 mutation in a large sample of the French population.   1990 009;85(4):434-5
  • Villalobos-Torres C, Rojas-Martinez A, Villareal-Castellanos E, Cantu JM, Sanchez-Anzaldo FJ, Saiki RK, Barrera-Saldana HA   Analysis of 16 cystic fibrosis mutations in Mexican patients.   1997 004 14;69(4):380-2
  • Vodoff MV, Gilbert B, Piguet C, Sautereau D, de Lumley L   [Acute recurrent pancreatitis and heterozygous mutation of the cystic fibrosis gene: a case report].   2000 004;7(4):388-90
  • Voronina OV, Gaitskhoki VS, Potapova OJu , Schwartz EI   A simple test for the detection of the delta F508 cystic fibrosis mutation.   1991 010;46(2):271-3
  • Wagner K, Greil I, Schneditz P, Pommer M, Rosenkranz W   A cystic fibrosis patient with delta F508, G542X and a deletion at the D7S8 locus.   1994;3(3):327-9
  • Wagner K, Greil I, Schneditz P, Rosenkranz W   A new missense mutation G126D in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1994 001-002;44(1):56-7
  • Wagner K, Zach M, Rosenkranz W   Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families.   1992 006;89(4):437-8
  • Wagner M, Schloesser M, Reiss J   Direct gene diagnosis of cystic fibrosis by allele-specific polymerase chain reactions.   1990 008;7(4):359-64
  • Wake SA, Rogers CJ, Colley PW, Hieatt EA, Jenner CF, Turner GM   Cystic fibrosis carrier screening in two New South Wales country towns.   1996 004 15;164(8):471-4
  • Wang W, Okayama H, Shirato K   [Genotypes of cystic fibrosis (CF) reported in the world and polymorphisms of cystic fibrosis transmembrane conductance regulator (CFTR) gene in Japanese].   1996 002;54(2):525-32
  • Wang YH, Barker P, Griffith J   Visualization of diagnostic heteroduplex DNAs from cystic fibrosis deletion heterozygotes provides an estimate of the kinking of DNA by bulged bases.   1992 003 5;267(7):4911-5
  • Ward CL, Kopito RR   Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins.   1994 010 14;269(41):25710-8
  • Warren WS, Hamosh A, Egan M, Rosenstein BJ   False-positive results of genetic testing in cystic fibrosis.   1997 004;130(4):658-60
  • Waters DL, Dorney SF, Gruca MA, Martin HC, Howman-Giles R, Kan AE, De Silva M, Gaskin KJ   Hepatobiliary disease in cystic fibrosis patients with pancreatic sufficiency.   1995 004;21(4):963-9
  • Watson EK, Mayall ES, Simova L, Thompson EM, Warner JO, Williamson R, Williams C   The incidence of delta F508 CF mutation, and associated haplotypes, in a sample of English CF families.   1990 009;85(4):435-6
  • Wauters JG, Hendrickx J, Coucke P, Vits L, Stuer K, van Schil L, van der Auwera BJ, Van Elsen A, Dumon J, Willems PJ, et al   Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients.   1991 002;39(2):89-92
  • Weber WM, Cuppens H, Cassiman JJ, Clauss W, Van Driessche W   Capacitance measurements reveal different pathways for the activation of CFTR.   1999 009;438(4):561-9
  • Wei X, Eisman R, Xu J, Harsch AD, Mulberg AE, Bevins CL, Glick MC, Scanlin TF   Turnover of the cystic fibrosis transmembrane conductance regulator (CFTR): slow degradation of wild-type and delta F508 CFTR in surface membrane preparations of immortalized airway epithelial cells.   1996 008;168(2):373-84
  • Welsh MJ, Denning GM, Ostedgaard LS, Anderson MP   Dysfunction of CFTR bearing the delta F508 mutation.   1993;17:235-9
  • Wennberg C, Kucinskas V   Low frequency of the delta F508 mutation in Finno-Ugrian and Baltic populations.   1994 005-006;44(3):169-71
  • West MR, Molloy CR   A microplate assay measuring chloride ion channel activity.   1996 010 1;241(1):51-8
  • Whetsell L, Shaefer F   Method for rapid, single reaction, direct screening of the delta F508 cystic fibrosis microdeletion.   1992 005;12(5):698, 701
  • White MB, Amos J, Hsu JM, Gerrard B, Finn P, Dean M   A frame-shift mutation in the cystic fibrosis gene.   1990 004 12;344(6267):665-7
  • Widerman E, Millner L, Sexauer W, Fiel S   Health status and sociodemographic characteristics of adults receiving a cystic fibrosis diagnosis after age 18 years.   2000 008;118(2):427-33
  • Wiebicke W, Artlich A, Gerling I   Myocardial fibrosis--a rare complication in patients with cystic fibrosis.   1993 008;152(8):694-6
  • Wilcken B, Wiley V, Sherry G, Bayliss U   Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies.   1995 012;127(6):965-70
  • Wilfond BS, Fost N   The cystic fibrosis gene: medical and social implications for heterozygote detection.   1990 005 23-30;263(20):2777-83
  • Will K, Reiss J, Dean M, Schlosser M, Slomski R, Schmidtke J, Stuhrmann M   CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.   1993 010;30(10):833-7
  • Williams C, Davies D, Williamson R   Segregation of delta F508 and normal CFTR alleles in human sperm.   1993 004;2(4):445-8
  • Witt M, Jaruzelska J, Kuczora I, Matuszak R, Cichy W, Borski K   A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families.   1993 007;44(1):44-5
  • Witt M, Pogorzelski A, Bal J, Rutkiewicz E, Majka L, Sobczynska A   [Frequency of mutations and genotypes of the CFTR gene in cystic fibrosis adults in Poland].   1999;67(3-4):137-41
  • Witt M, Reis A, Cichy W, Dziechciowska K   Microsatellite haplotypes of Polish cystic fibrosis alleles: delta F508 chromosomes demonstrate a North-South haplotype frequency gradient.   1996 011-012;46(6):310-4
  • Wittwer CT, Marshall BC, Reed GH, Cherry JL   Rapid cycle allele-specific amplification: studies with the cystic fibrosis delta F508 locus.   1993 005;39(5):804-9
  • Wong LJ, Wang J, Woo M, Hsu E, Bowman CM   A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family.   2000 010;20(10):807-10
  • Wu R, Cuppens H, Buyse I, Decorte R, Marynen P, Gordts S, Cassiman JJ   Co-amplification of the cystic fibrosis delta F508 mutation with the HLA DQA1 sequence in single cell PCR: implications for improved assessment of polar bodies and blastomeres in preimplantation diagnosis.   1993 012;13(12):1111-22
  • Wunderlich P, Stopsack M, Paul KD, Rosen-Wolff A   [Mucoviscidosis screening of newborn infants in the Dresden district. Results from 1 June 1996 to 31 March 2000].   2000 011 10;125(45):1356-60
  • Xia Y, Krouse ME, Fang RH, Wine JJ   Swelling and Ca2+-activated anion conductances in C127 epithelial cells expressing WT and delta F508-CFTR.   1996 006;151(3):269-78
  • Xie J, Drumm ML, Ma J, Davis PB   Intracellular loop between transmembrane segments IV and V of cystic fibrosis transmembrane conductance regulator is involved in regulation of chloride channel conductance state.   1995 011 24;270(47):28084-91
  • Yang Y, Devor DC, Engelhardt JF, Ernst SA, Strong TV, Collins FS, Cohn JA, Frizzell RA, Wilson JM   Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR.   1993 008;2(8):1253-61
  • Yang Y, Engelhardt JF, Wilson JM   Ultrastructural localization of variant forms of cystic fibrosis transmembrane conductance regulator in human bronchial epithelial of xenografts.   1994 007;11(1):7-15
  • Yang Y, Janich S, Cohn JA, Wilson JM   The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment.   1993 010 15;90(20):9480-4
  • Yeste D, Linan S, Cobos N, Gussinye M, del Rio L, Carrascosa A   [Bone mass in patients with cystic fibrosis of the pancreas. Relationship with anthropometric parameters and genotype].   1998 010 24;111(13):485-8
  • Yike I, Ye J, Zhang Y, Manavalan P, Gerken TA, Dearborn DG   A recombinant peptide model of the first nucleotide-binding fold of the cystic fibrosis transmembrane conductance regulator: comparison of wild-type and delta F508 mutant forms.   1996 001;5(1):89-97
  • Yilmaz E, Erdem H, Ozguc M, Coskun T, Ozcelik U, Gocmen A, Ozalp I   Study of 12 mutations in Turkish cystic fibrosis patients.   1995 005-006;45(3):175-7
  • Yorifuji T, Lemna WK, Ballard CF, Rosenbloom CL, Rozmahel R, Plavsic N, Tsui LC, Beaudet AL   Molecular cloning and sequence analysis of the murine cDNA for the cystic fibrosis transmembrane conductance regulator.   1991 007;10(3):547-50
  • Zar H, Saiman L, Quittell L, Prince A   Binding of Pseudomonas aeruginosa to respiratory epithelial cells from patients with various mutations in the cystic fibrosis transmembrane regulator.   1995 002;126(2):230-3
  • Zeiher BG, Eichwald E, Zabner J, Smith JJ, Puga AP, McCray PB, Capecchi MR, Welsh MJ, Thomas KR   A mouse model for the delta F508 allele of cystic fibrosis.   1995 010;96(4):2051-64
  • Zeitlin PL   Pharmacologic restoration of delta F508 CFTR-mediated chloride current.   2000 003;57(3):832-7
  • Zemel BS, Kawchak DA, Cnaan A, Zhao H, Scanlin TF, Stallings VA   Prospective evaluation of resting energy expenditure, nutritional status, pulmonary function, and genotype in children with cystic fibrosis.   1996 010;40(4):578-86
  • Zhang F, Kartner N, Lukacs GL   Limited proteolysis as a probe for arrested conformational maturation of delta F508 CFTR.   1998 003;5(3):180-3
  • Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens JM, Tsui LC   Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1991 005;10(1):229-35
  • Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K   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.   1993 003;52(3):609-15
  • Zielenski J, Tsui LC   Cystic fibrosis: genotypic and phenotypic variations.   1995;29:777-807
  • al-Jader LN, Meredith AL, Ryley HC, Cheadle JP, Maguire S, Owen G, Goodchild MC, Harper PS   Severity of chest disease in cystic fibrosis patients in relation to their genotypes.   1992 012;29(12):883-7
  • al-Jader LN, West RR, Holmes JA, Meredith L, Goodchild MC, Harper PS   Leukaemia mortality among relatives of cystic fibrosis patients.   1991 003;66(3):317-9
  • de Braekeleer M, Mari G, Verlingue C, Allard C, Leblanc JP, Simard F, Aubin G, Ferec C   Clinical features of cystic fibrosis patients with rare genotypes in Saguenay Lac-Saint-Jean (Quebec, Canada).   1997;40(4):205-8
  • de Miranda AB, Llerena Junior J, Dallalana LT, Moura-Neto RS, Suffys PN, Degrave WM   Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients.   1993 004-006;88(2):309-12
  • de Vries HG, Collee JM, Meeuwsen WP, Scheffer H, Ten Kate LP   Number and sex of offspring of delta F508 carriers outside cystic fibrosis families.   1995 005;95(5):575-6
  • de Vries HG, Collee JM, de Walle HE, van Veldhuizen MH, Smit Sibinga CT, Scheffer H, ten Kate LP   Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring.   1997 001;99(1):74-9
  • de Vries HG, van der Meulen MA, Rozen R, Halley DJ, Scheffer H, ten Kate LP, Buys CH, te Meerman GJ   Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations.   1996 009;98(3):304-9
  • del Rosario JF, Putnam PE, Orenstein DM   Chronic pancreatitis in a patient with cystic fibrosis and clinical pancreatic insufficiency.   1995 006;126(6):951-2
  • van Doorninck JH, French PJ, Verbeek E, Peters RH, Morreau H, Bijman J, Scholte BJ   A mouse model for the cystic fibrosis delta F508 mutation.   1995 009 15;14(18):4403-11




Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011