Discover Community Create You

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

Article

Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.

Genes - 11 Aug 2023

De Paolis Elisa, Tilocca Bruno, Lombardi Carla, De Bonis Maria, Concolino Paola, Onori Maria Elisabetta, Ricciardi Tenore Claudio, Perrucci Alessia, Roncada Paola, Capoluongo Ettore, Urbani Andrea, Minucci Angelo, Santonocito Concetta

Abstract excerpt

The incidence of cystic fibrosis (CF) and the spectrum of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants differ among geographic regions. Differences in CF carrier distribution are also reported among Italian regions. We described the spectrum of the CFTR variants observed in a large group of subjects belonging from central-southern Italy. We also provide a predictive evaluation of the...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Cystic Fibrosis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to High-Throughput Nucleotide Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 37628659
DOI: 10.3390/genes14081608
PMCID: PMC10454170

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.PMID 37628659Read ↗

Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.Semantic proximity Read ↗

A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology.Semantic proximity Read ↗

Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population.Semantic proximity Read ↗

Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.Semantic proximity Read ↗

Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico toolsSemantic proximity Read ↗

Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis.Semantic proximity Read ↗

CFTR gene variants, epidemiology and molecular pathology.Semantic proximity Read ↗

Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.Semantic proximity Read ↗

Diversity of<i>CFTR</i>variants across ancestries characterized using 454,727 UK biobank whole exome sequencesSemantic proximity Read ↗

Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in ChinaSemantic proximity Read ↗

Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.Semantic proximity Read ↗

A new insight into CFTR allele frequency in Brazil through next generation sequencing.Semantic proximity Read ↗

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