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

Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2012

Poulou Myrto, Fylaktou Irini, Fotoulaki Maria, Kanavakis Emmanuel, Tzetis Maria

Abstract excerpt

BACKGROUND: The Cystic Fibrosis database includes amongst the 1893 gene mutations and polymorphisms a lot of missense mutations, the disease status of which still remains unproven. In populations with high rates of CFTR mutation heterogeneity, molecular diagnosis is difficult often causing counse...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Databases, Genetic

Share to Frameshift Mutation

Share to Genetic Counseling

Share to Introns

Share to Mutation, Missense

Source

Identifiers

PMID: 22326559
DOI: 10.1016/j.jcf.2012.01.004

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22326559-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.PMID 22326559Read ↗

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

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis.Semantic proximity Read ↗

Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas.Semantic proximity Read ↗

Current and future molecular approaches in the diagnosis of cystic fibrosis.Semantic proximity Read ↗

Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.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 ↗

Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders.Semantic proximity Read ↗

Molecular Diagnosis of Cystic Fibrosis.Semantic proximity Read ↗

Insights and considerations on CFTR variant reporting in a study of cystic fibrosis patients in Saudi Arabia CFTR 1548del G and 1549del G: Navigating the discovery of novel mutations.Semantic proximity Read ↗

Evaluation of the disease liability of CFTR variants.Semantic proximity Read ↗

Applying CFTR molecular genetics to facilitate the diagnosis of cystic fibrosis through screening.Semantic proximity Read ↗

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

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