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 pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes.

Genetic testing - 1 Jan 2001

Castellani C, Quinzii C, Altieri S, Mastella G, Assael B M

Abstract excerpt

A cystic fibrosis (CF) heterozygote incidence higher than in the general population has been repeatedly reported in conditions which include clinical features found in CF, like pancreatitis, disseminated bronchiectasis, and allergic bronchopulmonary aspergillosis. Some cases may be explained by an unidentified compound heterozygosity; others could be manifesting heterozygotes. This study was aimed at detecting...

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
Share to Cystic Fibrosis

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

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to Heterozygote

Share to Incidence

Share to Pilot Projects

Source

Identifiers

PMID: 11788092
DOI: 10.1089/10906570152742317

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

A pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes.PMID 11788092Read ↗

Clinical Phenotypes of Cystic Fibrosis Carriers.Semantic proximity Read ↗

CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohort.Semantic proximity Read ↗

Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.Semantic proximity Read ↗

Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population.Semantic proximity Read ↗

Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic StudiesSemantic proximity Read ↗

Delayed identification of compound heterozygous (Phe508del/Arg117His) cystic fibrosis variants in a patient awaiting liver transplantation.Semantic proximity Read ↗

Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.Semantic proximity Read ↗

Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?Semantic proximity Read ↗

CFTR gene mutation in patients with apparently idiopathic pancreatitis: lack of phenotype-genotype correlation.Semantic proximity Read ↗

Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.Semantic proximity Read ↗

Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability.Semantic proximity Read ↗

Is nasal polyposis in cystic fibrosis a direct manifestation of genetic mutation or a complication of chronic infection?Semantic proximity Read ↗

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