Matches in SemOpenAlex for { <https://semopenalex.org/work/W1969275317> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W1969275317 endingPage "62" @default.
- W1969275317 startingPage "51" @default.
- W1969275317 abstract "The role of gene deletion and duplication in the aetiology of disease has become increasingly evident over the last decade. In addition to the classical deletion/duplication disorders diagnosed using molecular techniques, such as Duchenne Muscular Dystrophy and Charcot-Marie-Tooth Neuropathy Type 1A, the significance of partial or whole gene deletions in the pathogenesis of a large number single-gene disorders is becoming more apparent. A variety of dosage analysis methods are available to the diagnostic laboratory but the widespread application of many of these techniques is limited by the expense of the kits/reagents and restrictive targeting to a particular gene or portion of a gene. These limitations are particularly important in the context of a small diagnostic laboratory with modest sample throughput. We have developed a gene-targeted, custom-designed comparative genomic hybridisation (CGH) array that allows twelve clinical samples to be interrogated simultaneously for exonic deletions/duplications within any gene (or panel of genes) on the array. We report here on the use of the array in the analysis of a series of clinical samples processed by our laboratory over a twelve-month period. The array has proven itself to be robust, flexible and highly suited to the diagnostic environment." @default.
- W1969275317 created "2016-06-24" @default.
- W1969275317 creator A5005968434 @default.
- W1969275317 creator A5025303616 @default.
- W1969275317 creator A5043034080 @default.
- W1969275317 creator A5044894874 @default.
- W1969275317 date "2013-03-27" @default.
- W1969275317 modified "2023-09-25" @default.
- W1969275317 title "Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice" @default.
- W1969275317 cites W1909845901 @default.
- W1969275317 cites W1964610199 @default.
- W1969275317 cites W1966738746 @default.
- W1969275317 cites W1971289583 @default.
- W1969275317 cites W1982959726 @default.
- W1969275317 cites W1997140189 @default.
- W1969275317 cites W2005192285 @default.
- W1969275317 cites W2010595044 @default.
- W1969275317 cites W2011957289 @default.
- W1969275317 cites W2016811958 @default.
- W1969275317 cites W2024998665 @default.
- W1969275317 cites W2032574510 @default.
- W1969275317 cites W2072832813 @default.
- W1969275317 cites W2075199215 @default.
- W1969275317 cites W2114913050 @default.
- W1969275317 cites W2137703332 @default.
- W1969275317 cites W2146657801 @default.
- W1969275317 cites W2158116492 @default.
- W1969275317 cites W2164884600 @default.
- W1969275317 cites W2169562930 @default.
- W1969275317 cites W2171133795 @default.
- W1969275317 cites W2417128797 @default.
- W1969275317 cites W155999319 @default.
- W1969275317 doi "https://doi.org/10.3390/microarrays2020051" @default.
- W1969275317 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5003480" @default.
- W1969275317 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27605180" @default.
- W1969275317 hasPublicationYear "2013" @default.
- W1969275317 type Work @default.
- W1969275317 sameAs 1969275317 @default.
- W1969275317 citedByCount "2" @default.
- W1969275317 countsByYear W19692753172014 @default.
- W1969275317 countsByYear W19692753172015 @default.
- W1969275317 crossrefType "journal-article" @default.
- W1969275317 hasAuthorship W1969275317A5005968434 @default.
- W1969275317 hasAuthorship W1969275317A5025303616 @default.
- W1969275317 hasAuthorship W1969275317A5043034080 @default.
- W1969275317 hasAuthorship W1969275317A5044894874 @default.
- W1969275317 hasBestOaLocation W19692753171 @default.
- W1969275317 hasConcept C104317684 @default.
- W1969275317 hasConcept C120821319 @default.
- W1969275317 hasConcept C141231307 @default.
- W1969275317 hasConcept C150194340 @default.
- W1969275317 hasConcept C151730666 @default.
- W1969275317 hasConcept C2779343474 @default.
- W1969275317 hasConcept C54355233 @default.
- W1969275317 hasConcept C55548728 @default.
- W1969275317 hasConcept C60644358 @default.
- W1969275317 hasConcept C70721500 @default.
- W1969275317 hasConcept C71924100 @default.
- W1969275317 hasConcept C7602840 @default.
- W1969275317 hasConcept C86803240 @default.
- W1969275317 hasConcept C95371953 @default.
- W1969275317 hasConceptScore W1969275317C104317684 @default.
- W1969275317 hasConceptScore W1969275317C120821319 @default.
- W1969275317 hasConceptScore W1969275317C141231307 @default.
- W1969275317 hasConceptScore W1969275317C150194340 @default.
- W1969275317 hasConceptScore W1969275317C151730666 @default.
- W1969275317 hasConceptScore W1969275317C2779343474 @default.
- W1969275317 hasConceptScore W1969275317C54355233 @default.
- W1969275317 hasConceptScore W1969275317C55548728 @default.
- W1969275317 hasConceptScore W1969275317C60644358 @default.
- W1969275317 hasConceptScore W1969275317C70721500 @default.
- W1969275317 hasConceptScore W1969275317C71924100 @default.
- W1969275317 hasConceptScore W1969275317C7602840 @default.
- W1969275317 hasConceptScore W1969275317C86803240 @default.
- W1969275317 hasConceptScore W1969275317C95371953 @default.
- W1969275317 hasIssue "2" @default.
- W1969275317 hasLocation W19692753171 @default.
- W1969275317 hasLocation W19692753172 @default.
- W1969275317 hasLocation W19692753173 @default.
- W1969275317 hasLocation W19692753174 @default.
- W1969275317 hasLocation W19692753175 @default.
- W1969275317 hasOpenAccess W1969275317 @default.
- W1969275317 hasPrimaryLocation W19692753171 @default.
- W1969275317 hasRelatedWork W1981217509 @default.
- W1969275317 hasRelatedWork W1999543747 @default.
- W1969275317 hasRelatedWork W2026920664 @default.
- W1969275317 hasRelatedWork W2043199743 @default.
- W1969275317 hasRelatedWork W2104163599 @default.
- W1969275317 hasRelatedWork W2155557383 @default.
- W1969275317 hasRelatedWork W2518684421 @default.
- W1969275317 hasRelatedWork W2753263062 @default.
- W1969275317 hasRelatedWork W2765081400 @default.
- W1969275317 hasRelatedWork W2802292866 @default.
- W1969275317 hasVolume "2" @default.
- W1969275317 isParatext "false" @default.
- W1969275317 isRetracted "false" @default.
- W1969275317 magId "1969275317" @default.
- W1969275317 workType "article" @default.