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

The Irish cystic fibrosis database.

Journal of medical genetics - 1 Dec 1995

Cashman S M, Patino A, Delgado M G, Byrne L, Denham B, De Arce M

Abstract excerpt

We have found records of 1014 Irish cystic fibrosis patients alive by December 1994, belonging to 883 families. Prevalence in the population is 1/3475 and incidence at birth 1/1461, with a gene frequency of 2.6%. Twenty percent of the patients are aged over 20 years, but at present survival rate falls rapidly after that age. We have identified 85% of the mutations on the CFTR gene in a sample of 29% of the...

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 Child, Preschool

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

Share to Gene Frequency

Share to Haplotypes

Share to Infant

Share to Microsatellite Repeats

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 8825927
DOI: 10.1136/jmg.32.12.972
PMCID: PMC1051780

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

The Irish cystic fibrosis database.PMID 8825927Read ↗

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.Semantic proximity Read ↗

A haplotype framework for cystic fibrosis mutations in Iran.Semantic proximity Read ↗

National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years.Semantic proximity Read ↗

Cystic fibrosis in Turkey: First data from the national registry.Semantic proximity Read ↗

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.Semantic proximity Read ↗

Demographic Characteristics, Clinical and Laboratory Features, and The Distribution of Pathogenic Variants In the Cftr Gene In the Cypriot Cystic Fibrosis (Cf) Population Demonstrate The Utility of a National Cf Patient RegistrySemantic proximity Read ↗

Diversity of<i>CFTR</i>variants across ancestries characterized using 454,727 UK biobank whole exome sequencesSemantic proximity Read ↗

Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.Semantic proximity Read ↗

Demographics of the UK cystic fibrosis population: implications for neonatal screening.Semantic proximity Read ↗

Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry.Semantic proximity Read ↗

Contribution of common CFTR variants (M470V, T854, and Q1463) to cystic fibrosis in Tunisia: haplotype analysis.Semantic proximity Read ↗

Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.Semantic proximity Read ↗

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