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

Targeted extended cystic fibrosis mutation testing on known and at-risk patients and relatives.

Genetic testing - 1 Jan 2007

Lebo Roger V, Omlor Greg J

Abstract excerpt

This paper reports mathematically derived residual risks of being a carrier or being affected with cystic fibrosis following various screening scenarios to assist in interpreting test results and advising patients. While parental screening with 23 American College of Medical Genetics (ACMG) cystic fibrosis mutations defines the 64% of affected U.S. Caucasian fetuses with two detectable mutations, newborn...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms
Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Family Health

Share to Genetic Testing

Share to Pedigree

Share to Risk Factors

Source

Identifiers

PMID: 18294061
DOI: 10.1089/gte.2007.0050

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Targeted extended cystic fibrosis mutation testing on known and at-risk patients and relatives.PMID 18294061Read ↗

Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?Semantic proximity Read ↗

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

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.Semantic proximity Read ↗

Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.Semantic proximity Read ↗

Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations.Semantic proximity Read ↗

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

Cystic fibrosis newborn screening: using experience to optimize the screening algorithm.Semantic proximity Read ↗

Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy.Semantic proximity Read ↗

Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes.Semantic proximity Read ↗

Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.Semantic proximity Read ↗

Cystic Fibrosis Screen-Positive Neonates with One Pathogenic Variant Still Warrant Sweat TestingSemantic proximity Read ↗

Susceptibility haplotypes in non-cystic fibrosis newborns with elevated immunoreactive trypsinogenSemantic proximity Read ↗

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