European epidemiologic registry of cystic fibrosis (ERCF): Comparison of major disease manifestations between patients with different classes of mutations

Pediatric Pulmonology

Volumn 31, Issue 1, 2001, Pages 1-12

  Koch, C ^a,b   Cuppens, H ^b,c   Rainisio, M ^a,d,e   Madessani, U ^f,g   Harms, H K ^a,h   Hodson, M E ^a,i   Mastella, G ^a   Navarro, J ^a   Strandvik, B ^a,b,c   McKenzie, S G ^a,b,d  

^a Rigshospitalet   (Denmark)

^b Center for Human Genetics   (Belgium)

^c Statistics for Research SFR Ltd   (Switzerland)

^d UNIVERSITY OF MUNICH   (Germany)

^e ROYAL BROMPTON HOSPITAL   (United Kingdom)

^f Cystic Fibrosis Center   (Italy)

^g Pediatric Sleep Disorders Center   (France)

^h QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

ⁱ F HOFFMANN LA ROCHE LTD   (Switzerland)

Author keywords

Cystic fibrosis; Diabetes mellitus; Genotype; Liver function; Phenotype; Pseudomonas aeruginosa; Pulmonary function; Registry

Indexed keywords

BILIRUBIN; LIVER ENZYME; PANCREAS ENZYME;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL FEATURE; COMPARATIVE STUDY; CYSTIC FIBROSIS; DIABETES MELLITUS; DISEASE COURSE; FORCED EXPIRATORY VOLUME; GENE MUTATION; GENOTYPE; GRAM NEGATIVE INFECTION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LIVER DISEASE; PANCREAS INSUFFICIENCY; PREVALENCE; PRIORITY JOURNAL;

ADOLESCENT; AGE FACTORS; BILIRUBIN; CHILD; CONFIDENCE INTERVALS; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DIABETES MELLITUS; EUROPE; FORCED EXPIRATORY VOLUME; GASTROINTESTINAL AGENTS; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LIVER DISEASES; LUNG DISEASES; MUTATION; PANCREATIN; PHENOTYPE; PREVALENCE; PSEUDOMONAS AERUGINOSA; PSEUDOMONAS INFECTIONS; REGISTRIES; VITAL CAPACITY;

EID: 0035122157     PISSN: 87556863     EISSN: None     Source Type: Journal    
DOI: 10.1002/1099-0496(200101)31:1<1::AID-PPUL1000>3.0.CO;2-T     Document Type: Article

References (52)

1. Identification of the cystic fibrosis gene: Chromosome walking and jumping
2. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
3. Identification of the cystic fibrosis gene: Genetic analysis
4. Genotype-phenotype correlations in cystic fibrosis
5. Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations
6. Cystic fibrosis: Genotypic and phenotypic variations
7. Cystic fibrosis
8. The spectrum of cystic fibrosis mutations
9. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
10. Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations
11. Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity
12. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
13. Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2
14. -channels with altered pore properties
15. Structural cues involved in endoplasmic reticulum degradation of G85E and G91R mutant cystic fibrosis transmembrane conductance regulator
16. Effect of cystic fibrosis-associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator
17. Physical growth: National Center for Health Statistics percentiles
18. Changes in the normal maximal expiratory flow-volume curve with growth and aging
19. Familial concordance of pancreatic function in cystic fibrosis
20. The relationship between genotype and phenotype in cystic fibrosis - Analysis of the most common mutation (F508)
21. Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis
22. Pancreatic function and genetic deletion F508 in cystic fibrosis
23. Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency
24. Cystic fibrosis: Relationship between clinical status and F508 deletion
25. Severity of cystic fibrosis in patients homozygous and heterozygous for F508 mutation
26. Genetic determinants of exocrine pancreatic function in cystic fibrosis
27. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
28. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10kbCT mutation
29. A cystic fibrosis mutation associated with mild lung disease
30. Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation
31. Correlation between genotype and phenotype in patients with cystic fibrosis
32. A mutation in CFTR produces different phenotypes depending on chromosomal background
33. Polyvariant mutant cystic fibrosis transmembrane regulator genes. The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
34. Determinants of mild clinical symptoms in cystic fibrosis. Residual chloride secretion in rectal biopsies in relation to the genotype
35. Endocrine and exocrine pancreatic function and the delta-F508 mutation in cystic fibrosis
36. Other organ systems
37. Deletion of F508 and clinical expression of cystic fibrosis-related liver disease
38. Genotype analysis for F508, G551D, and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease
39. Clinical and genetic risk factors for cystic fibrosis-related liver disease
40. The cystic fibrosis transmembrane conductance-regulator gene
41. Variable phenotypes for nine CFTR mutations associated with pancreatic sufficiency in CF patients
42. Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels
43. Pathogenesis of cystic fibrosis
44. Genetic determinants of airways colonization with Pseudomonas aeruginosa in cystic fibrosis
45. Long term survival and nutritional data in patients with cystic fibrosis treated in a Danish centre
46. Short-term nutritional supplementation during management of pulmonary exacerbations in cystic fibrosis: A controlled study, including effects on protein turnover
47. Energy and respiratory metabolism in cystic fibrosis: The influence of carbohydrate content of nutritional supplements
48. Relation between tumor necrosis factor-alpha and granulocyte elastase-alpha 1-proteinase inhibitor complexes in the plasma of patients with cystic fibrosis
49. International practice patterns by age and severity of lung disease in cystic fibrosis: Data from the Epidemiologic Registry of Cystic Fibrosis (ERCF)
50. Clinical characteristics and genotype analysis of patients with cystic fibrosis and nasal polyposis requiring surgery