Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype.

doi:10.1016/j.jcf.2022.04.020

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Sept 2022

Tosco Antonella, Castaldo Alice, Colombo Carla, Claut Laura, Carnovale Vincenzo, Iacotucci Paola, Lucarelli Marco, Cimino Giuseppe, Fabrizzi Benedetta, Caporelli Nicole, Majo Fabio, Ciciriello Fabiana, Padoan Rita, Poli Piercarlo, Taccetti Giovanni, Centrone Claudia, Casciaro Rosaria, Castellani Carlo, Salvatore Donatello, Colangelo Carmela, Bonomi Paolo, Castaldo Giuseppe, Terlizzi Vito

Abstract excerpt

BACKGROUND: In recent years, patients with cystic fibrosis (CF) conductance regulator (CFTR) variant poly(T) sequences have been increasingly reported with a wide spectrum of clinical severity. We describe the long-term clinical outcomes and progression to a CF diagnosis over time in a large Italian cohort of patients carrying the CFTR F508del/5T;TG12 genotype. METHODS: A retrospective analysis of subjects from...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Cystic Fibrosis

Share to Cystic Fibrosis Research Advances

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to Genotype

Share to Immunodeficiency and Autoimmune Disorders

Share to Mutation

Source

Open in PubMed

Identifiers

PMID: 35523714
DOI: 10.1016/j.jcf.2022.04.020

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype.PMID 35523714Read ↗

Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTRSemantic proximity Read ↗

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.Semantic proximity Read ↗

Demographic Characteristics, Clinical and Laboratory Features, and The Distribution of Pathogenic Variants In the Cftr Gene In the Cypriot Cystic Fibrosis (Cf) Population Demonstrate The Utility of a National Cf Patient RegistrySemantic proximity Read ↗

Recurrent Sinopulmonary Infections and Poor Growth in a Child Homozygous for the CFTR 5T-TG12 VariantSemantic proximity Read ↗

Clinical outcome of individuals carrying 5T;TG12 in trans with CFTR variants with varying clinical consequencesSemantic proximity Read ↗

Diagnosis of atypical CF: a case-report to reflect.Semantic proximity Read ↗

Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry.Semantic proximity Read ↗

Developing a primer for communicating about penetrance, expressivity, and genotype-phenotype correlation of R117H and the poly-T tract in CFTR.Semantic proximity Read ↗

CFTR genotype-phenotype associations and clinical outcomes in pediatric cystic fibrosis.Semantic proximity Read ↗

Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening.Semantic proximity Read ↗

Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length.Semantic proximity Read ↗

An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.