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

Evaluation of clinical and genetic characteristics of cystic fibrosis patients in the Southeastern Anatolia of Turkey.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2025

Arik Elif, Keskin Ozlem, Korkmaz Murat, Şen Velat, Hangül Melih, Cesur Mahmut, Kucukosmanoglu Ercan, Balcı Sibel Oğuzkan, Şen Hadice Selimoğlu, Savaş Suat, Doğan İlkay

Abstract excerpt

BACKGROUND: Due to the amazing developments in modulatory treatments, genetic analysis of cystic fibrosis (CF) patients has become even more important. More than 2000 disease-causing variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been found, and their ethnic and geographical distributions vary. We aimed to present the first genetic data from the Southeastern Anatolia region...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

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

Share to Child, Preschool

Share to Cystic Fibrosis

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to Infant

Share to Infant, Newborn

Share to Turkey

Source

Identifiers

PMID: 40955454
DOI: 10.1111/ped.70197

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 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

Evaluation of clinical and genetic characteristics of cystic fibrosis patients in the Southeastern Anatolia of Turkey.PMID 40955454Read ↗

Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators.Semantic proximity Read ↗

The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.Semantic proximity Read ↗

Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.Semantic proximity Read ↗

Mutations of the CFTR gene and novel variants in Turkish patients with cystic fibrosis: 24-years experience.Semantic proximity Read ↗

Spectrum of CFTR gene mutations in Iranian Azeri Turkish patients with cystic fibrosis.Semantic proximity Read ↗

Patients eligible for modulator drugs: Data from cystic fibrosis registry of Turkey.Semantic proximity Read ↗

Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia).Semantic proximity Read ↗

CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review.Semantic proximity Read ↗

Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients.Semantic proximity Read ↗

Genotype-phenotype correlation of CFTR variants in cystic fibrosis patients.Semantic proximity Read ↗

Cystic fibrosis in Turkey: First data from the national registry.Semantic proximity Read ↗

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.Semantic proximity Read ↗

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