Associated Papers
The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.
Krasnova M et al.
International Journal of Molecular Sciences, 2023
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Initial regional evaluation of the Cystic Fibrosis Newborn Screening Program: data from the Mediterranean coast of Turkey
Başaran AE et al.
Turkish Journal of Medical Sciences, 2019
Pharmacological analysis of CFTR variants of cystic fibrosis using stem cell-derived organoids.
Chen KG et al.
Drug Discovery Today, 2019
Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.
Petrova G et al.
Molecular Genetics & Genomic Medicine, 2019
Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene.
Kim J et al.
Experimental & Molecular Medicine, 2015
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.
Ziętkiewicz E et al.
Plos One, 2014
A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.
Lucarelli M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
A 96-well formatted method for exon and exon/intron boundary full sequencing of the CFTR gene.
Lucarelli M et al.
Analytical Biochemistry, 2006
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.
Clain J et al.
Human Genetics, 2005
Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.
Kanavakis E et al.
Clinical Genetics, 2003
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Bobadilla JL et al.
Human Mutation, 2002
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study.
Angelicheva D et al.
Human Genetics, 1997
Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.
Tzetis M et al.
Human Genetics, 1997
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
Morral N et al.
American Journal of Human Genetics, 1994
G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.
Savov A et al.
Human Molecular Genetics, 1994
Spectrum of CFTR gene sequence variants in a northern Portugal population.
Grangeia A et al.
Pulmonology, 0