Associated Papers
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human Genetics, 2018
Sequencing of the CFTR gene in selected Turkish patients with cystic fibrosis.
Çankaya T et al.
Minerva Pediatrica, 2015
Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening.
Perone C et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2010
WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient.
des Georges M et al.
The Journal of Molecular Diagnostics : Jmd, 2008
Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.
Stanke F et al.
Journal of Medical Genetics, 2008
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 novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family.
Monnier N et al.
Journal of Medical Genetics, 2001
The molecular basis of cystic fibrosis in South Africa.
Goldman A et al.
Clinical Genetics, 2001
The geographic distribution of cystic fibrosis mutations gives clues about population origins.
Dawson KP et al.
European Journal of Pediatrics, 2000
Regulation of Cl-/ HCO3- exchange by cystic fibrosis transmembrane conductance regulator expressed in NIH 3T3 and HEK 293 cells.
Lee MG et al.
The Journal of Biological Chemistry, 1999
Control of CFTR channel gating by phosphorylation and nucleotide hydrolysis.
Gadsby DC et al.
Physiological Reviews, 1999
Cystic fibrosis carrier frequencies in populations of African origin.
Padoa C et al.
Journal of Medical Genetics, 1999
Detection of 100% of the CFTR mutations in 63 CF families from Tyrol.
Stuhrmann M et al.
Clinical Genetics, 1997
[Molecular genetic analysis of TUB18 and TUB20 intragenic polymorphism and various mutations of the CFTR gene in the Moscow region].
Sazonova MA et al.
Genetika, 1997
[TUB9 polymorphism in the CFTR gene of cystic fibrosis patients, carriers, and healthy donors from the Moscow region. SSCP and restriction analyses].
Amosenko FA et al.
Genetika, 1997
First report of CFTR mutations in black cystic fibrosis patients of southern African origin.
Carles S et al.
Journal of Medical Genetics, 1996
Conformational states of CFTR associated with channel gating: the role ATP binding and hydrolysis.
Gunderson KL et al.
Cell, 1995
[Analysis of various polymorphic markers of the CFTR gene in cystic fibrosis patients and healthy donors from the Moscow region].
Amosenko FA et al.
Genetika, 1995
[Portion of certain cystic fibrosis gene mutations and linkage dysequilibrium between the CFTR-gene locus and two DNA marker loci in Russian populations].
Petrova NV et al.
Genetika, 1994
A novel mutation (G1249R) in exon 20 of the CFTR gene.
Dijkstra DJ et al.
Human Mutation, 1994
Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.
Banjar HH et al.
Annals of Saudi Medicine, 0
A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Greil I et al.
Human Heredity, 0