225 results on '"Zielenski, Julian"'
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2. Type of CFTR Mutation Determines Risk of Pancreatitis in Patients With Cystic Fibrosis
3. Identification of Mutations in Regions Corresponding to the Two Putative Nucleotide (ATP)-Binding Folds of the Cystic Fibrosis Gene
4. Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results
5. Does Integration of Various Ion Channel Measurements Improve Diagnostic Performance in Cystic Fibrosis?
6. Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?
7. Genetic modifiers of liver disease in cystic fibrosis
8. Normalization of obesity-associated insulin resistance through immunotherapy
9. Complex two-gene modulation of lung disease severity in children with cystic fibrosis
10. The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis
11. Genetic modifiers of lung disease in cystic fibrosis
12. Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis
13. Evaluation of the Disease Liability of CFTR Variants
14. Role of Cystic Fibrosis Transmembrane Conductance Regulator in Patients With Chronic Sinopulmonary Disease
15. A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis Genetic modifier studies
16. Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis
17. CFTR2: DEFINING THE CLINICAL AND FUNCTIONAL CONSEQUENCES OF CFTR MUTATIONS: S11.1
18. Genotype-Phenotype Correlations in Cystic Fibrosis
19. FINDING GENETIC MODIFIERS OF CF LUNG DISEASE USING GENOMEWIDE LINKAGE: S15.2
20. Primary Sclerosing Cholangitis in Childhood is Associated with Abnormalities in Cystic Fibrosis–Mediated Chloride Channel Function
21. PhenCode: Connecting ENCODE Data With Mutations and Phenotype
22. Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X
23. Mutations in the Cystic Fibrosis Transmembrane Regulator Gene and In Vivo Transepithelial Potentials
24. Cystic Fibrosis Transmembrane Conductance Regulator Function Is Suppressed in Cigarette Smokers
25. TWO-TIERED IMMUNOREACTIVE TRYPSINOGEN-BASED NEWBORN SCREENING FOR CYSTIC FIBROSIS IN COLORADO: SCREENING EFFICACY AND DIAGNOSTIC OUTCOMES
26. Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families
27. Clinical Manifestations of Cystic Fibrosis Among Patients With Diagnosis in Adulthood*
28. Airway Inflammation and Infection in Congenital Bilateral Absence of the Vas Deferens
29. Cystic fibrosis: genotypic and phenotypic variations
30. α1-Antitrypsin Deficiency Alleles in Cystic Fibrosis Lung Disease
31. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene
32. Glucose intolerance in children with cystic fibrosis
33. Genotype and Phenotype in Cystic Fibrosis
34. An embryoprotective role for glucose-6-phosphate dehydrogenase in developmental oxidative stress and chemical teratogenesis
35. Proportion of Cystic Fibrosis Gene Mutations Not Detected by Routine Testing in Men With Obstructive Azoospermia
36. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein
37. Uncertainty in the diagnosis of cystic fibrosis: Possible role of in vivo nasal potential difference measurements
38. Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism
39. Screening for genetic mutations
40. Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations
41. A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation
42. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2
43. CFTR Mutation Detection by Multiplex Heteroduplex (mHET) Analysis on MDE Gel
44. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
45. Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?
46. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
47. Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis
48. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2
49. TLR5 as an Anti-Inflammatory Target and Modifier Gene in Cystic Fibrosis
50. Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening
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