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

A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2016

Bergougnoux Anne, Boureau-Wirth Amandine, Rouzier Cécile, Altieri Jean-Pierre, Verneau Fanny, Larrieu Lise, Koenig Michel, Claustres Mireille, Raynal Caroline

Abstract excerpt

The detection of two frequent CFTR disease-causing variations in the context of a newborn screening program (NBS) usually leads to the diagnosis of cystic fibrosis (CF) and a relevant genetic counseling in the family. In the present study, CF-causing variants p.Phe508del (F508del) and c.3140-26A>G (3272-26A>G) were identified on a neonate with positive ImmunoReactive Trypsinogen test by the Elucigene™ CF30 kit....

Read the complete abstract on PubMed

Topics

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

Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to False Positive Reactions

Share to Family

Share to Medical History Taking

Share to Neonatal Screening

Share to Trypsinogen

Source

Identifiers

PMID: 27117206
DOI: 10.1016/j.jcf.2016.04.003

Genes

SCT
CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.PMID 27117206Read ↗

Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.Semantic proximity Read ↗

Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.Semantic proximity Read ↗

Pancreatic Insufficiency in a Child with p.Gly542* and c.2657+5G>A Heterozygote CFTR: A Case Report.Semantic proximity Read ↗

Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report.Semantic proximity Read ↗

The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy.Semantic proximity Read ↗

The novel CFTR haplotype E583G/F508del in CFTR-related disorder.Semantic proximity Read ↗

The pathogenic consequences of a single mutated CFTR gene.Semantic proximity Read ↗

Penetrance is a critical parameter for assessing the disease liability of CFTR variants.Semantic proximity Read ↗

Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.Semantic proximity Read ↗

Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.Semantic proximity Read ↗

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

Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.Semantic proximity Read ↗

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