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Search for publications relevant for "cystic fibrosis transmembrane conductance regulator"
cystic fibrosis transmembrane conductance regulator
Publication
Class
Person
Publication
Programmes
publication
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis
1996 |
Central Library of Charles University
publication
A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis
1998 |
Central Library of Charles University
publication
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
2004 |
Second Faculty of Medicine
publication
Health-economic aspects of cystic fibrosis screening and therapy
2014 |
Second Faculty of Medicine
publication
Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype
2004 |
Second Faculty of Medicine
publication
Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels
2000 |
Second Faculty of Medicine
publication
Elexacaftor: next-generation modulator of the CFTR protein
2021 |
Second Faculty of Medicine
publication
Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening
2002 |
Second Faculty of Medicine
publication
Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport
2010 |
Second Faculty of Medicine
publication
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
2012 |
Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
publication
Case report of a Thai male cystic fibrosis patinet with the 1898+ 1G-->T splicing mutation in the CFTR gene: a review of East Asian cases. Mutations in brief no. 196. Online
1998 |
Second Faculty of Medicine
publication
Current treatment of cystic fibrosis
2007 |
Second Faculty of Medicine
publication
Current possibilities of causal therapy of cystic fibrosis in childhood
2021 |
Faculty of Medicine in Pilsen
publication
Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of Selected Exons of the CFTR Gene
2009 |
Second Faculty of Medicine
publication
Drug therapy for cystic fibrosis
2010 |
Second Faculty of Medicine
publication
Frequency of the ΔF508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families
1990 |
Second Faculty of Medicine, Central Library of Charles University
publication
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene
2005 |
Second Faculty of Medicine
publication
Recommendations for the classification of diseases as CFTR-related disorders
2011 |
Second Faculty of Medicine
publication
Therapeutic strategies in cystic fibrosis
2014 |
Second Faculty of Medicine
publication
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations
2006 |
Second Faculty of Medicine
publication
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation
1995 |
Second Faculty of Medicine
publication
A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation
2011 |
Second Faculty of Medicine
publication
The current view of the diagnosis and new treatment options of Cystic Fibrosis
2016 |
Faculty of Medicine in Pilsen
publication
Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease
2009 |
Second Faculty of Medicine
publication
Standards for the care of people with cystic fibrosis; establishing and maintaining health
2024 |
Second Faculty of Medicine
publication
Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci
2010 |
Second Faculty of Medicine
publication
Cystic fibrosis patients bearing both the common missense mutation GlyRIGHTWARDS ARROWAsp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileus
1992 |
Second Faculty of Medicine
publication
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis
2018 |
Second Faculty of Medicine
publication
Cystic Fibrosis Revisited - a Review Study
2017 |
Publication without faculty affiliation
publication
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR
2015 |
Second Faculty of Medicine