ArticleThe Journal of molecular diagnostics : JMD2005
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
Article in The Journal of molecular diagnostics : JMD, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
13 citing papers in PubMed, 44 citations in OpenAlex.
- The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.Balkan medical journal · 2021Article
- Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.Human genetics · 2021Article
- Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.Molecular genetics & genomic medicine · 2017Article
- Causes of male infertility: a 9-year prospective monocentre study on 1737 patients with reduced total sperm counts.Human reproduction (Oxford, England) · 2017Article
- Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.PloS one · 2015Article
- Cystic fibrosis in a Hispanic adolescent.Pediatric pulmonology · 2014Article
- Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels.PloS one · 2014Article
- Clinical application of high throughput molecular screening techniques for pharmacogenomics.Pharmacogenomics and personalized medicine · 2011Article
- The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.The Journal of molecular diagnostics : JMD · 2010Article
- Multiplex detection and genotyping of point mutations involved in charcot-marie-tooth disease using a hairpin microarray-based assay.Research letters in biochemistry · 2009Article
- A comparative study of five technologically diverse CFTR testing platforms.The Journal of molecular diagnostics : JMD · 2007Article
- Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.The Journal of molecular diagnostics : JMD · 2007Article
- Assessing human germ-cell mutagenesis in the Postgenome Era: a celebration of the legacy of William Lawson (Bill) Russell.Environmental and molecular mutagenesis · 2007Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystic fibrosis (CF), which is due to mutations in the cystic fibrosis transmembrane conductance regulator gene, is a common life-shortening disease. Although CF occurs with the highest incidence in Caucasians, it also occurs in other ethnicities with variable frequency. Recent national guidelines suggest that all couples contemplating pregnancy should be informed of molecular screening for CF carrier status for purposes of genetic counseling. Commercially available CF carrier screening panels offer a limited panel of mutations, however, making them insufficiently sensitive for certain groups within an ethnically diverse population. This discrepancy is even more pronounced when such carrier screening panels are used for diagnostic purposes. By means of arrayed primer extension technology, we have designed a genotyping microarray with 204 probe sites for CF transmembrane conductance regulator gene mutation detection. The arrayed primer extension array, based on a platform technology for disease detection with multiple applications, is a robust, cost-effective, and easily modifiable assay suitable for CF carrier screening and disease detection.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.