Associated Papers
Prevalence, type, and clinical implications of CFTR variants in bronchiectasis.
Gramegna A et al.
Pulmonology, 2026
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Challenges of Preimplantation Genetic Counselling in the Context of Cystic Fibrosis and Other CFTR-Related Disorders: A Monocentric Experience in a Cohort of 92 Couples.
Sorrentino U et al.
Genes, 2024
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
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.
De Paolis E et al.
Genes, 2023
DPC29 promotes post-initiation mitochondrial translation in Saccharomyces cerevisiae.
Hubble KA et al.
Nucleic Acids Research, 2023
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.
Wong SL et al.
Iscience, 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
The true panel of cystic fibrosis mutations in the Sicilian population.
Chamayou S et al.
Bmc Medical Genetics, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.
Soltysova A et al.
The Clinical Respiratory Journal, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M et al.
Human Mutation, 2017
Sweat chloride and immunoreactive trypsinogen in infants carrying two CFTR mutations and not affected by cystic fibrosis.
Castellani C et al.
Archives of Disease in Childhood, 2017
Cystic fibrosis transmembrane conductance regulator gene variants are associated with autoimmune pancreatitis and slow response to steroid treatment.
Chang MC et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2015
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Lucarelli M et al.
Molecular Medicine (cambridge, Mass.), 2015
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma.
McWilliams RR et al.
Cancer, 2010
A 10-year large-scale cystic fibrosis carrier screening in the Italian population.
Picci L et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.
Morea A et al.
Molecular Human Reproduction, 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
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
D'Apice MR et al.
Bmc Medical Genetics, 2004
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
Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.
Férec C et al.
Molecular and Cellular Probes, 1995