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

CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.

Journal of medical genetics - 1 Apr 1997

Castellani C, Bonizzato A, Mastella G

Abstract excerpt

Neonates positive for immunoreactive trypsinogen assay (IRT) and negative for sweat test have formerly been found to carry the major cystic fibrosis (CF) mutation, delta F508, much more frequently than the general population. Among the 716 IRT positive newborns detected by a three tier (IRT, mutation analysis plus meconium lactase assay, sweat test) CF screening programme in north eastern Italy during the period...

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
Share to Cystic Fibrosis Transmembrane Conductance Regulator

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

Share to CFTR gene

Share to Infant, Newborn

Share to Introns

Share to Mutation

Share to RNA, Messenger

Source

Open in PubMed Open full text

Identifiers

PMID: 9138152
DOI: 10.1136/jmg.34.4.297
PMCID: PMC1050915

Genes

CFTR

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

CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.PMID 9138152Read ↗

Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.Semantic proximity Read ↗

Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations.Semantic proximity Read ↗

Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening.Semantic proximity Read ↗

Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers.Semantic proximity Read ↗

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

Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden.Semantic proximity Read ↗

Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis.Semantic proximity Read ↗

Sweat chloride and immunoreactive trypsinogen in infants carrying two CFTR mutations and not affected by cystic fibrosis.Semantic proximity Read ↗

Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses.Semantic proximity Read ↗

Cystic fibrosis screening in neonates--measurement of immunoreactive trypsin and direct genotype analysis for delta F508 mutation.Semantic proximity Read ↗

Pancreatic function and extended mutation analysis in DeltaF508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels.Semantic proximity Read ↗

Blood immunoreactive trypsinogen concentrations are genetically determined in healthy and cystic fibrosis newborns.Semantic proximity Read ↗

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