Susceptibility to pseudomonas infection

Eiberg H et al. (1985) Cystic fibrosis; hint of linkage with F13B.

De Rose V et al. (2005) Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.

Chong JX et al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Buranawuti K et al. (2007) Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis.

Garred P et al. (1999) Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis.

Davies J et al. (2000) Differential binding of mannose-binding lectin to respiratory pathogens in cystic fibrosis.

Gabolde M et al. (2001) The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis.

Yarden J et al. (2004) Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype.

Dorfman R et al. (2008) Complex two-gene modulation of lung disease severity in children with cystic fibrosis.

Sheridan MB et al. (2005) Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

Viel M et al. (2008) ENaCbeta and gamma genes as modifier genes in cystic fibrosis.

Fajac I et al. (2008) Could a defective epithelial sodium channel lead to bronchiectasis.

Mutesa L et al. (2009) Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

Azad AK et al. (2009) Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.

Mekus F et al. (1998) Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator.

Savov A et al. (1995) Double mutant alleles: are they rare?

Lazarin GA et al. (2013) An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Sharer N et al. (1998) Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.

Cohn JA et al. (1998) Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

Warner JO et al. (1976) Cystic fibrosis heterozygosity in the pathogenesis of allergy.

Hösli P et al. (1979) Detection of cystic fibrosis homozygotes and heterozygotes with plasma.

None (1979) Increased resistance to influenza as a possible source of heterozygote advantage in cystic fibrosis.

Wilson GB et al. (1975) Studies on cystic fibrosis using isoelectric focusing. I. An assay for detection of cystic fibrosis homozygotes and heterozygote carriers from serum.

None (1979) Epidemiology of cystic fibrosis: a review.

di Sant'agnese PA et al. (1979) Cystic fibrosis in adults. 75 cases and a review of 232 cases in the literature.

Katznelson D et al. (1978) Cystic fibrosis in Israel: clinical and genetic aspects.

Stern RC et al. (1978) Intermediate-range sweat chloride concentration and Pseudomonas bronchitis. A cystic fibrosis variant with preservation of exocrine pancreatic function.

Danes BS et al. (1978) Cystic fibrosis: cell culture classes in a Danish population.

Breslow JL et al. (1978) Enhanced dexamethasone resistance in cystic fibrosis cells: potential use for heterozygote detection and prenatal diagnosis.

Bois E et al. (1978) Cluster of cystic fibrosis cases in a limited area of Brittany (France).

Di Sant'Agnese PA et al. (1976) Research in cystic fibrosis (first of three parts).

Danes BS et al. (1977) Cystic fibrosis: Evidence for a genetic compound from a family study in cell culture.

Shwachman H et al. (1977) Cystic fibrosis: a new outlook. 70 patients above 25 years of age.

Blanck RR et al. (1976) Fertility in a man with cystic fibrosis.

Goodchild MC et al. (1976) A search for linkage in cystic fibrosis.

Rao GJ et al. (1975) Deficiency of arginine esterase in cystic fibrosis of the pancreas: demonstration of the proteolytic nature of the activity.

Engelhardt JF et al. (1992) In vivo retroviral gene transfer into human bronchial epithelia of xenografts.

Cheadle JP et al. (1992) A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.

None (1992) No CFTR: are CF symptoms milder?

Férec C et al. (1992) Detection of over 98% cystic fibrosis mutations in a Celtic population.

Colledge WH et al. (1992) Cystic fibrosis mouse with intestinal obstruction.

Rosenfeld MA et al. (1992) In vivo transfer of the human cystic fibrosis transmembrane conductance regulator gene to the airway epithelium.

Bradbury NA et al. (1992) Regulation of plasma membrane recycling by CFTR.

None (1992) Cystic fibrosis: molecular biology and therapeutic implications.

Kristidis P et al. (1992) Genetic determination of exocrine pancreatic function in cystic fibrosis.

Cutting GR et al. (1992) Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

Fanen P et al. (1992) 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.

Snouwaert JN et al. (1992) An animal model for cystic fibrosis made by gene targeting.

Clarke LL et al. (1992) Defective epithelial chloride transport in a gene-targeted mouse model of cystic fibrosis.

Handyside AH et al. (1992) Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis.

Dorin JR et al. (1992) Cystic fibrosis in the mouse by targeted insertional mutagenesis.

Abeliovich D et al. (1992) Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.

Cheadle J et al. (1992) Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.

Hubbard RC et al. (1992) A preliminary study of aerosolized recombinant human deoxyribonuclease I in the treatment of cystic fibrosis.

Laroche D et al. (1991) Abnormal frequency of delta F508 mutation in neonatal transitory hypertrypsinaemia.

Schoumacher RA et al. (1990) A cystic fibrosis pancreatic adenocarcinoma cell line.

Rich DP et al. (1990) Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells.

Devoto M et al. (1991) Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.

Marino CR et al. (1991) Localization of the cystic fibrosis transmembrane conductance regulator in pancreas.

Dörk T et al. (1991) Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.

Rodman DM et al. (1991) The cystic fibrosis heterozygote--advantage in surviving cholera?

Barreto C et al. (1991) A fertile male with cystic fibrosis: molecular genetic analysis.

Hammond KB et al. (1991) Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations.

Nunes V et al. (1991) Analysis of 14 cystic fibrosis mutations in five south European populations.

Gasparini P et al. (1990) The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis.

Dumur V et al. (1990) Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion.

Ten Kate LP et al. (1991) Consanguinity sans reproche.

Curtis A et al. (1991) Association of less common cystic fibrosis mutations with a mild phenotype.

None (1990) Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).

Edwards JH et al. (1990) The slash sheet: a simple procedure for risk analysis in cystic fibrosis.

Lemna WK et al. (1990) Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis.

None (1990) Screening for cystic fibrosis; public policy and personal choices.

Bilton D et al. (1990) Pathology of common bile duct stenosis in cystic fibrosis.

Ferrari M et al. (1990) Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study.

Klinger K et al. (1990) Cystic fibrosis mutations in the Hutterite Brethren.

None () CpG-rich islands and the function of DNA methylation.

None (1988) Cystic fibrosis and chloride-secreting diarrhoea.

Landry DW et al. (1989) Purification and reconstitution of chloride channels from kidney and trachea.

Jetten AM et al. (1989) Persistence of abnormal chloride conductance regulation in transformed cystic fibrosis epithelia.

None (1989) The basic defect in cystic fibrosis.

Cutting GR et al. (1989) Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.

Fujiwara TM et al. (1989) Genealogical analysis of cystic fibrosis families and chromosome 7q RFLP haplotypes in the Hutterite Brethren.

Mornet E et al. (1989) Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes.

Kerem BS et al. (1989) DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis.

McMillan SA et al. (1989) T cell receptor beta chain polymorphisms are associated with cystic fibrosis.

Kerem B et al. (1989) Identification of the cystic fibrosis gene: genetic analysis.

Voss R et al. (1989) Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

Hill AJ et al. (1989) Linkage disequilibrium and CF allele segregation analysis in cystic fibrosis families in Northern Ireland.

Devoto M et al. (1989) Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations.

Estivill X et al. (1989) Delta F508 gene deletion in cystic fibrosis in southern Europe.

McIntosh I et al. (1989) Frequency of delta F508 mutation on cystic fibrosis chromosomes in UK.

Romeo G et al. (1989) Why is the cystic fibrosis gene so frequent?

Corey M et al. (1989) Familial concordance of pancreatic function in cystic fibrosis.

Nazer H et al. (1989) Cystic fibrosis in Saudi Arabia.

Scambler PJ et al. (1985) Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications.

Cleghorn GJ et al. (1986) Treatment of distal intestinal obstruction syndrome in cystic fibrosis with a balanced intestinal lavage solution.

Farrall M et al. (1986) First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes.

White R et al. (1986) Further linkage data on cystic fibrosis: the Utah Study.

Spence JE et al. (1986) Linkage of DNA markers to cystic fibrosis in 26 families.

Watkins PC et al. (1986) A linkage study of cystic fibrosis in extended multigenerational pedigrees.

Estivill X et al. () A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.

Siraganian PA et al. (1987) Cystic fibrosis and ileal carcinoma.

Mornet E et al. (1988) Genetic differences between cystic fibrosis with and without meconium ileus.

Spence JE et al. (1988) Uniparental disomy as a mechanism for human genetic disease.

Morreau J et al. (1988) Cystic fibrosis: screening for a DNA deletion by field inversion gel electrophoresis.

Harris A et al. (1988) Cystic fibrosis typing with DNA probes: experience of a screening laboratory.

Shepherd RW et al. (1988) Increased energy expenditure in young children with cystic fibrosis.

Estivill X et al. (1988) Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study.

Krawczak M et al. (1988) Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families.

Beaudet AL et al. (1989) Linkage disequilibrium, cystic fibrosis, and genetic counseling.

Knowles MR et al. (1989) Mild cystic fibrosis in a consanguineous family.

Scambler P et al. (1985) Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis.

Tsui LC et al. (1985) Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker.

Eiberg H et al. (1985) Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny.

Knowlton RG et al. () A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.

Wainwright BJ et al. () Localization of cystic fibrosis locus to human chromosome 7cen-q22.

Farrall M et al. (1986) The analysis of multiple polymorphic loci on a single human chromosome to exclude linkage to inherited disease: cystic fibrosis and chromosome 4.

Buchwald M et al. (1986) Linkage of cystic fibrosis to the pro alpha 2(I) collagen gene, COL1A2, on chromosome 7.

Brown WR et al. () Long-range restriction site mapping of mammalian genomic DNA.

Farrall M et al. (1986) Cystic fibrosis carrier detection using a linked gene probe.

Beaudet A et al. (1986) Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study.

Bowcock AM et al. (1986) Genetic analysis of cystic fibrosis: linkage of DNA and classical markers in multiplex families.

Naylor SL et al. (1986) Linkage of cystic fibrosis locus and polymorphic DNA markers in 14 families.

Horn SD et al. (1986) Misclassification problems in diagnosis-related groups. Cystic fibrosis as an example.

Duncan AM et al. (1988) In situ hybridization of two cloned chromosome 7 sequences tightly linked to the cystic fibrosis locus.

Searle AG et al. (1987) Chromosome maps of man and mouse, III.

Welsh MJ et al. (1987) Cystic fibrosis.

Gaskin KJ et al. (1988) Liver disease and common-bile-duct stenosis in cystic fibrosis.

Jorde LB et al. (1988) A test of the heterozygote-advantage hypothesis in cystic fibrosis carriers.

Katz SM et al. (1988) Microscopic nephrocalcinosis in cystic fibrosis.

Baxter PS et al. (1988) Accounting for cystic fibrosis.

Strain L et al. (1988) Use of linkage disequilibrium data in prenatal diagnosis of cystic fibrosis.

Farrall M et al. (1986) Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11.

Tsui LC et al. (1986) Genetic analysis of cystic fibrosis using linked DNA markers.

Vitale E et al. (1986) Homogeneity of cystic fibrosis in Italy.

None (1987) Genetic counselling and antenatal diagnosis of cystic fibrosis.

Ober C et al. (1987) Studies of cystic fibrosis in Hutterite families by using linked DNA probes.

Boué A et al. (1986) Prenatal diagnosis in 200 pregnancies with a 1-in-4 risk of cystic fibrosis.

Lander ES et al. (1986) Consanguinity and heterogeneity: cystic fibrosis need not be homogeneous in Italy.

Romeo G et al. (1986) Homogeneity vs. heterogeneity of cystic fibrosis in Italy.

Klinger K et al. (1986) Genetic homogeneity of cystic fibrosis.

Widdicombe JH et al. (1985) Cystic fibrosis decreases the apical membrane chloride permeability of monolayers cultured from cells of tracheal epithelium.

White R et al. () A closely linked genetic marker for cystic fibrosis.

Wainwright B et al. (1986) Linkage between the cystic fibrosis locus and markers on chromosome 7q.

Scambler PJ et al. (1986) Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis.

Romeo G et al. (1985) Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis.

Cattanach BM et al. () Differential activity of maternally and paternally derived chromosome regions in mice.

Danes BS et al. (1968) A genetic cell marker in cystic fibrosis of the pancreas.

Smith DW et al. (1968) Possible localisation of the gene for cystic fibrosis of the pancreas to the short arm of chromosome 5.

Danes BS et al. (1968) Localisation of the cystic-fibrosis gene.

Danes BS et al. (1969) Cystic fibrosis: an improved method for studying white blood-cells in culture.

Danes BS et al. (1969) Cystic fibrosis: distribution of mucopolysaccharides in fibroblast cultures.

Danes BS et al. (1969) Cystic fibrosis of the pancreas. A study in cell culture.

Rao GJ et al. (1972) Deficiency of kallikrein activity in plasma of patients with cystic fibrosis.

Rao GJ et al. (1974) Arginine esterase in cystic fibrosis of the pancreas.

Di Sant'Agnese PA et al. (1967) Pathogenesis and physiopathology of cystic fibrosis of the pancreas. Fibrocystic disease of the pancreas (Mucoviscidosis).

None (1970) Cystic fibrosis in adults.

Oppenheimer EH et al. (1969) Observations on cystic fibrosis of the pancreas. V. Developmental changes in the male genital system.

Oppenheimer EH et al. (1970) Observations on cystic fibrosis of the pancreas. VI. The uterine cervix.

Oppenheimer EA et al. (1970) Cervical mucus in cystic fibrosis: a possible cause of infertility.

Wright SW et al. (1968) Genetic studies on cystic fibrosis in Hawaii.

Harris RL et al. (1968) Cystic fibrosis in the American Indian.

Mangos JA et al. (1968) Studies on the mechanism of inhibition of sodium transport in cystic fibrosis of the pancreas.

Blanck C et al. (1965) Mucoviscidosis and intestinal atresia. A study of four cases in the same family.

Honeyman MS et al. (1965) Cystic fibrosis of the pancreas: an estimate of the incidence.

Spock A et al. (1967) Abnormal serum factor in patients with cystic fibrosis of the pancreas.

Manson JC et al. (1980) Development of a quantitative immunoassay for the cystic fibrosis gene.

Stern RC et al. (1982) Obstructive azoospermia as a diagnostic criterion for the cystic fibrosis syndrome.

Katznelson D et al. (1983) Detection of cystic-fibrosis genotypes.

Edwards JH et al. (1984) Locus for cystic fibrosis.

Cavenee W et al. (1984) Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13.

Danks DM et al. (1983) Mutations at more than one locus may be involved in cystic fibrosis--evidence based on first-cousin data and direct counting of cases.

None (1983) Cystic fibrosis in the Ohio Amish: gene frequency and founder effect.

Baylin SB et al. (1980) Age-related abnormalities of circulating polyamines and diamine oxidase activity in cystic fibrosis heterozygotes and homozygotes.

None (1983) Chloride impermeability in cystic fibrosis.

Knowles M et al. (1983) Relative ion permeability of normal and cystic fibrosis nasal epithelium.

Shapiro BL et al. (1982) Calcium and age in fibroblasts from control subjects and patients with cystic fibrosis.

Brock DJ et al. (1982) Controlled trial of serum isoelectric focusing in the detection of the cystic fibrosis gene.

Bullock S et al. (1982) Quantitative immunoassays for diagnosis and carrier detection in cystic fibrosis.

Sing CF et al. (1982) Phenotypic heterogeneity in cystic fibrosis.

Sanguinetti-Briceno NR et al. (1982) NADH dehydrogenase in cystic fibrosis.

Shapiro BL et al. (1982) Mitochondrial NADH dehydrogenase in cystic fibrosis: enzyme kinetics in cultured fibroblasts.

None (1980) A new genetic concept: uniparental disomy and its potential effect, isodisomy.

Allan JL et al. (1981) Familial occurrence of meconium ileus.

Breslow JL et al. (1981) Distinguishing homozygous and heterozygous cystic fibrosis fibroblasts from normal cells by differences in sodium transport.

Mayo BJ et al. (1980) Somatic cell genetic studies of the cystic fibrosis mucociliary inhibitor.

Gabriel SE et al. (1994) Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model.

Crystal RG et al. (1994) Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis.

Zhou L et al. (1994) Correction of lethal intestinal defect in a mouse model of cystic fibrosis by human CFTR.

Tebbutt SJ et al. (1995) Molecular analysis of the ovine cystic fibrosis transmembrane conductance regulator gene.

Knowles MR et al. (1995) A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis.

Colledge WH et al. (1995) Generation and characterization of a delta F508 cystic fibrosis mouse model.

Kerem E et al. (1995) Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel.

Kubesch P et al. (1993) Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis.

Sheppard DN et al. (1993) Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.

Hyde SC et al. (1993) Correction of the ion transport defect in cystic fibrosis transgenic mice by gene therapy.

Yang Y et al. (1993) An approach for treating the hepatobiliary disease of cystic fibrosis by somatic gene transfer.

Yang Y et al. (1993) Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR.

None (1995) Resolving DNA mutations.

Neglia JP et al. (1995) The risk of cancer among patients with cystic fibrosis. Cystic Fibrosis and Cancer Study Group.

Smyth RL et al. (1994) Strictures of ascending colon in cystic fibrosis and high-strength pancreatic enzymes.

Dorin JR et al. (1994) Long-term survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild-type Cftr gene expression.

None (1994) Carrier risk calculations for recessive diseases when not all the mutant alleles are detectable.

None (1993) Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium.

Borgo G et al. (1993) Phenotypic intrafamilial heterogeneity in cystic fibrosis.

Pier GB et al. (1996) Role of mutant CFTR in hypersusceptibility of cystic fibrosis patients to lung infections.

Rozmahel R et al. (1996) Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor.

Campbell KH et al. (1996) Sheep cloned by nuclear transfer from a cultured cell line.

None (1996) Fibrosing colonopathy in cystic fibrosis.

None (1995) Gene therapy for cystic fibrosis: challenges and future directions.

Johannesson M et al. (1997) Delayed puberty in girls with cystic fibrosis despite good clinical status.

de Vries HG et al. (1997) Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring.

None (1997) The diagnosis of cystic fibrosis.

Wilmut I et al. (1997) Viable offspring derived from fetal and adult mammalian cells.

FitzSimmons SC et al. (1997) High-dose pancreatic-enzyme supplements and fibrosing colonopathy in children with cystic fibrosis.

Macek M et al. (1997) Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.

Manson AL et al. (1997) Complementation of null CF mice with a human CFTR YAC transgene.

Dankert-Roelse JE et al. (1997) Screening for cystic fibrosis--time to change our position?

None (1997) Towards an ovine model of cystic fibrosis.

Farrell PM et al. (1997) Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cystic Fibrosis Neonatal Screening Study Group.

Kent G et al. (1997) Lung disease in mice with cystic fibrosis.

Collins A et al. (1998) Mapping a disease locus by allelic association.

Brock DJ et al. (1998) The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies.

Pier GB et al. (1998) Salmonella typhi uses CFTR to enter intestinal epithelial cells.

Dörk T et al. (1998) Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations.

Muller F et al. (1998) Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.

Matsui H et al. (1998) Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease.

Padoa C et al. (1999) Cystic fibrosis carrier frequencies in populations of African origin.

None (1999) Status of gene therapy for cystic fibrosis lung disease.

Hodge SE et al. (1999) Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations.

Ernst RK et al. (1999) Specific lipopolysaccharide found in cystic fibrosis airway Pseudomonas aeruginosa.

Reddy MM et al. (1999) Activation of the epithelial Na+ channel (ENaC) requires CFTR Cl- channel function.

Restrepo CM et al. (2000) CFTR mutations in three Latin American countries.

Wang J et al. (2000) A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients.

Kabra M et al. (2000) Is the spectrum of mutations in Indian patients with cystic fibrosis different?

Boyne J et al. (2000) Many deltaF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation.

Högenauer C et al. (2000) Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion.

Farrell PM et al. (2001) Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group.

Castellani C et al. (2001) Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test.

Tarran R et al. (2001) The CF salt controversy: in vivo observations and therapeutic approaches.

Mateu E et al. (2002) Can a place of origin of the main cystic fibrosis mutations be identified?

Scotet V et al. (2002) Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies.

Groman JD et al. (2002) Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

Scotet V et al. (2002) Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960.

Meyer P et al. (2002) Analysis of the two common alpha-1-antitrypsin deficiency alleles PiMS and PiMZ as modifiers of Pseudomonas aeruginosa susceptibility in cystic fibrosis.

Mekus F et al. (2003) Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs.

Kulczycki LL et al. (2003) A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations.

Coleman FT et al. (2003) Hypersusceptibility of cystic fibrosis mice to chronic Pseudomonas aeruginosa oropharyngeal colonization and lung infection.

Scotet V et al. (2003) Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France.

None (1961) Fibrocystic disease of the pancreas: a comment.

None (1960) Familial incidence of fibrocystic disease of the pancreas.

Freedman SD et al. (2004) Association of cystic fibrosis with abnormalities in fatty acid metabolism.

Mall M et al. (2004) Increased airway epithelial Na+ absorption produces cystic fibrosis-like lung disease in mice.

Egan ME et al. (2004) Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects.

Quint A et al. (2005) Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.

Nam MH et al. (2005) Variations of the CFTR gene in the Hanoi-Vietnamese.

van de Vosse E et al. (2005) Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR).

Drumm ML et al. (2005) Genetic modifiers of lung disease in cystic fibrosis.

Stanke F et al. (2006) The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.

Hardin DS et al. (2006) Growth hormone treatment improves growth and clinical status in prepubertal children with cystic fibrosis: results of a multicenter randomized controlled trial.

Steinberg AG et al. (1960) On the Incidence of Cystic Fibrosis of the Pancreas.

LOWE CU et al. (1949) Fibrosis of the pancreas in infants and children; a statistical study of clinical and hereditary features.

Bremer LA et al. (2008) Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.

Kravchenko VV et al. (2008) Modulation of gene expression via disruption of NF-kappaB signaling by a bacterial small molecule.

Dequeker E et al. (2009) Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

Rogers CS et al. (2008) Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs.

Gu Y et al. (2009) Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease.

O'Sullivan BP et al. (2009) Cystic fibrosis.

Bartlett JR et al. (2009) Genetic modifiers of liver disease in cystic fibrosis.

Harmon GS et al. (2010) Pharmacological correction of a defect in PPAR-gamma signaling ameliorates disease severity in Cftr-deficient mice.

Chen JH et al. (2010) Loss of anion transport without increased sodium absorption characterizes newborn porcine cystic fibrosis airway epithelia.

de Becdelièvre A et al. (2011) Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.

None (2012) Drug bests cystic-fibrosis mutation.

Feuchtbaum L et al. (2012) Birth prevalence of disorders detectable through newborn screening by race/ethnicity.

Emond MJ et al. (2012) Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.

Hoegger MJ et al. (2014) Impaired mucus detachment disrupts mucociliary transport in a piglet model of cystic fibrosis.

Wainwright CE et al. (2015) Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.

El-Harith EA et al. (1998) PCR-based analysis of cystic fibrosis mutations specific for Saudi patients.

Rowe SM et al. (2017) Tezacaftor-Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis.

Taylor-Cousar JL et al. (2017) Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del.

Muraglia KA et al. (2019) Small-molecule ion channels increase host defences in cystic fibrosis airway epithelia.