Matches in SemOpenAlex for { <https://semopenalex.org/work/W2047012487> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W2047012487 endingPage "81" @default.
- W2047012487 startingPage "78" @default.
- W2047012487 abstract "Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome. Previous studies suggest that a substantial number of patients with congenital heart disease have a 22q11 deletion. The molecular diagnosis of Del22q11.2 is usually made by fluorescence in situ hybridization, an expensive and not widely available technique. We developed an efficient and cost-effective PCR SNP assay designed for the screening of 22q11.2 deletion through consecutive homozygosity. Through the screening of dbSNP we have selected SNP markers located in the 22q11.2 microdeleted region. Population heterozygosities were determined in 213 normal individuals. Designed assays consisted of PCR amplification followed by restriction enzyme digestion. Fragments generated were visualized on agarose gel and genotyped. Selected markers were: rs5748411, rs2238778, rs4819523 and rs4680. All selected markers were localized in the 22q11.2 deleted region. Allele and genotype frequencies of all selected markers were under Hardy–Weinberg equilibrium. Selected SNPs were not in linkage disequilibrium. Predicted assay specificity was estimated to be 92.86% in the Brazilian population. The use of consecutive homozygosity in this SNP-based diagnostic test may be used as a cost-effective tool in reference molecular genetics laboratories." @default.
- W2047012487 created "2016-06-24" @default.
- W2047012487 creator A5029023934 @default.
- W2047012487 creator A5032665680 @default.
- W2047012487 creator A5048844200 @default.
- W2047012487 creator A5049584600 @default.
- W2047012487 creator A5088604083 @default.
- W2047012487 date "2006-07-01" @default.
- W2047012487 modified "2023-10-15" @default.
- W2047012487 title "PCR screening for 22q11.2 microdeletion: Development of a new cost-effective diagnostic tool" @default.
- W2047012487 cites W1495669599 @default.
- W2047012487 cites W1965960584 @default.
- W2047012487 cites W1978876953 @default.
- W2047012487 cites W1979763971 @default.
- W2047012487 cites W1983551736 @default.
- W2047012487 cites W1996501364 @default.
- W2047012487 cites W1999606522 @default.
- W2047012487 cites W2002969945 @default.
- W2047012487 cites W2044141056 @default.
- W2047012487 cites W2047455586 @default.
- W2047012487 cites W2063900804 @default.
- W2047012487 cites W2112673117 @default.
- W2047012487 cites W2114919588 @default.
- W2047012487 cites W2118094114 @default.
- W2047012487 cites W2132189464 @default.
- W2047012487 cites W2143481531 @default.
- W2047012487 cites W2157304951 @default.
- W2047012487 cites W2741527614 @default.
- W2047012487 doi "https://doi.org/10.1016/j.cca.2006.01.005" @default.
- W2047012487 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16574089" @default.
- W2047012487 hasPublicationYear "2006" @default.
- W2047012487 type Work @default.
- W2047012487 sameAs 2047012487 @default.
- W2047012487 citedByCount "12" @default.
- W2047012487 countsByYear W20470124872014 @default.
- W2047012487 countsByYear W20470124872015 @default.
- W2047012487 countsByYear W20470124872023 @default.
- W2047012487 crossrefType "journal-article" @default.
- W2047012487 hasAuthorship W2047012487A5029023934 @default.
- W2047012487 hasAuthorship W2047012487A5032665680 @default.
- W2047012487 hasAuthorship W2047012487A5048844200 @default.
- W2047012487 hasAuthorship W2047012487A5049584600 @default.
- W2047012487 hasAuthorship W2047012487A5088604083 @default.
- W2047012487 hasConcept C104317684 @default.
- W2047012487 hasConcept C122060243 @default.
- W2047012487 hasConcept C135763542 @default.
- W2047012487 hasConcept C139275648 @default.
- W2047012487 hasConcept C153209595 @default.
- W2047012487 hasConcept C2908647359 @default.
- W2047012487 hasConcept C35605836 @default.
- W2047012487 hasConcept C35794970 @default.
- W2047012487 hasConcept C54355233 @default.
- W2047012487 hasConcept C71924100 @default.
- W2047012487 hasConcept C86803240 @default.
- W2047012487 hasConcept C99454951 @default.
- W2047012487 hasConceptScore W2047012487C104317684 @default.
- W2047012487 hasConceptScore W2047012487C122060243 @default.
- W2047012487 hasConceptScore W2047012487C135763542 @default.
- W2047012487 hasConceptScore W2047012487C139275648 @default.
- W2047012487 hasConceptScore W2047012487C153209595 @default.
- W2047012487 hasConceptScore W2047012487C2908647359 @default.
- W2047012487 hasConceptScore W2047012487C35605836 @default.
- W2047012487 hasConceptScore W2047012487C35794970 @default.
- W2047012487 hasConceptScore W2047012487C54355233 @default.
- W2047012487 hasConceptScore W2047012487C71924100 @default.
- W2047012487 hasConceptScore W2047012487C86803240 @default.
- W2047012487 hasConceptScore W2047012487C99454951 @default.
- W2047012487 hasIssue "1" @default.
- W2047012487 hasLocation W20470124871 @default.
- W2047012487 hasLocation W20470124872 @default.
- W2047012487 hasOpenAccess W2047012487 @default.
- W2047012487 hasPrimaryLocation W20470124871 @default.
- W2047012487 hasRelatedWork W1539262549 @default.
- W2047012487 hasRelatedWork W172227456 @default.
- W2047012487 hasRelatedWork W1996767070 @default.
- W2047012487 hasRelatedWork W2029292949 @default.
- W2047012487 hasRelatedWork W2102796473 @default.
- W2047012487 hasRelatedWork W2164855536 @default.
- W2047012487 hasRelatedWork W2255966682 @default.
- W2047012487 hasRelatedWork W2312416044 @default.
- W2047012487 hasRelatedWork W2410422322 @default.
- W2047012487 hasRelatedWork W2901592770 @default.
- W2047012487 hasVolume "369" @default.
- W2047012487 isParatext "false" @default.
- W2047012487 isRetracted "false" @default.
- W2047012487 magId "2047012487" @default.
- W2047012487 workType "article" @default.