Associated Papers
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Comparison of refugee patients with cystic fibrosis and their counterpart children from Turkey during the war.
Yılmaz Aİ et al.
European Journal of Pediatrics, 2024
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review.
Al-Sadeq D et al.
Respirology (carlton, Vic.), 2019
Arab gene geography: From population diversities to personalized medical genomics.
Tadmouri GO et al.
Global Cardiology Science & Practice, 2014
Mutational spectrum of cystic fibrosis in the Lebanese population.
Farra C et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2010
Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis.
Montgomery J et al.
Clinical Chemistry, 2007
A haplotype framework for cystic fibrosis mutations in Iran.
Elahi E et al.
The Journal of Molecular Diagnostics : Jmd, 2006
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.
Pompei F et al.
European Journal of Human Genetics : Ejhg, 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 large-scale study of the random variability of a coding sequence: a study on the CFTR gene.
Modiano G et al.
European Journal of Human Genetics : Ejhg, 2005
Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.
Alper OM et al.
Human Mutation, 2004
The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.
Steiner B et al.
Human Mutation, 2004
Detection of CFTR mutations using temporal temperature gradient gel electrophoresis.
Wong LJ et al.
Electrophoresis, 2004
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
Scotet V et al.
Human Mutation, 2003
Cystic fibrosis transmembrane regulator gene mutations in Bahrain.
Eskandarani HA
Journal of Tropical Pediatrics, 2002
Molecular diagnosis of cystic fibrosis.
Shrimpton AE
Expert Review of Molecular Diagnostics, 2002
Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis.
Grade K et al.
Human Genetics, 1994
Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.
Gregory RJ et al.
Molecular and Cellular Biology, 1991