FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2163089222> ?p ?o ?g. }

• W2163089222 endingPage "35" @default.
• W2163089222 startingPage "28" @default.
• W2163089222 abstract "Congenital heart disease (CHD) is a common cardiac defect found in infants and children. Despite advances in diagnosis and treatment, our understanding of the causative mechanism and etiology of CHD is limited. To determine the genetic etiology of CHD, we selected 11 consecutive short tandem-repeat polymorphic (STRP) markers located in the interval of the 22q11.2 region to perform genotype analysis on a large number of CHD patients (>120) and their normal relatives (>220). The results show that as regards the distribution of allelic size and frequency of these STRP markers, there were no significant differences between the CHD patients and the normal volunteers. This indicates that there is no linkage disequilibrium with these markers in CHD. In the level of heterozygosity for each marker in nonsyndromic CHD and conotruncal heart defect (CTD), there were no significant differences between the two populations. In syndromic CHD, the level of heterozygosity for D22S1648 was significantly lower than that observed in the unaffected population (χ2 = 11.25; P = 0.001). This suggests that there may be a deletion at the D22S1648 locus, and the low heterozygosity of D22S1648 indicates that this marker can be used as a genetic marker for detecting microdeletions in 22q11.2. With the use of fluorescence in situ hybridization (FISH) and real-time quantitative polymerase chain reaction (PCR) performed on syndromic patients, we confirmed the molecular results. J. Clin. Lab. Anal. 17:28–35, 2003. © 2003 Wiley-Liss, Inc." @default.
• W2163089222 created "2016-06-24" @default.
• W2163089222 creator A5013290169 @default.
• W2163089222 creator A5019184126 @default.
• W2163089222 creator A5023229093 @default.
• W2163089222 creator A5032006263 @default.
• W2163089222 creator A5065865184 @default.
• W2163089222 creator A5086801768 @default.
• W2163089222 creator A5089445005 @default.
• W2163089222 creator A5090144902 @default.
• W2163089222 date "2003-01-01" @default.
• W2163089222 modified "2023-10-18" @default.
• W2163089222 title "Genetic analysis of chromosome 22q11.2 markers in congenital heart disease" @default.
• W2163089222 cites W1598485198 @default.
• W2163089222 cites W185936842 @default.
• W2163089222 cites W1987460221 @default.
• W2163089222 cites W1988194497 @default.
• W2163089222 cites W2002772971 @default.
• W2163089222 cites W2007886643 @default.
• W2163089222 cites W2021106046 @default.
• W2163089222 cites W2023315904 @default.
• W2163089222 cites W2060674493 @default.
• W2163089222 cites W2068861296 @default.
• W2163089222 cites W2076995895 @default.
• W2163089222 cites W2095954443 @default.
• W2163089222 cites W2141722018 @default.
• W2163089222 cites W2401529445 @default.
• W2163089222 doi "https://doi.org/10.1002/jcla.10062" @default.
• W2163089222 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6807742" @default.
• W2163089222 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12526020" @default.
• W2163089222 hasPublicationYear "2003" @default.
• W2163089222 type Work @default.
• W2163089222 sameAs 2163089222 @default.
• W2163089222 citedByCount "9" @default.
• W2163089222 countsByYear W21630892222012 @default.
• W2163089222 countsByYear W21630892222018 @default.
• W2163089222 crossrefType "journal-article" @default.
• W2163089222 hasAuthorship W2163089222A5013290169 @default.
• W2163089222 hasAuthorship W2163089222A5019184126 @default.
• W2163089222 hasAuthorship W2163089222A5023229093 @default.
• W2163089222 hasAuthorship W2163089222A5032006263 @default.
• W2163089222 hasAuthorship W2163089222A5065865184 @default.
• W2163089222 hasAuthorship W2163089222A5086801768 @default.
• W2163089222 hasAuthorship W2163089222A5089445005 @default.
• W2163089222 hasAuthorship W2163089222A5090144902 @default.
• W2163089222 hasBestOaLocation W21630892222 @default.
• W2163089222 hasConcept C104317684 @default.
• W2163089222 hasConcept C135763542 @default.
• W2163089222 hasConcept C137627325 @default.
• W2163089222 hasConcept C142724271 @default.
• W2163089222 hasConcept C143589142 @default.
• W2163089222 hasConcept C153209595 @default.
• W2163089222 hasConcept C180754005 @default.
• W2163089222 hasConcept C190789776 @default.
• W2163089222 hasConcept C2777542201 @default.
• W2163089222 hasConcept C2780074459 @default.
• W2163089222 hasConcept C2908647359 @default.
• W2163089222 hasConcept C30481170 @default.
• W2163089222 hasConcept C35605836 @default.
• W2163089222 hasConcept C54355233 @default.
• W2163089222 hasConcept C61320498 @default.
• W2163089222 hasConcept C71924100 @default.
• W2163089222 hasConcept C84597430 @default.
• W2163089222 hasConcept C86803240 @default.
• W2163089222 hasConcept C99454951 @default.
• W2163089222 hasConceptScore W2163089222C104317684 @default.
• W2163089222 hasConceptScore W2163089222C135763542 @default.
• W2163089222 hasConceptScore W2163089222C137627325 @default.
• W2163089222 hasConceptScore W2163089222C142724271 @default.
• W2163089222 hasConceptScore W2163089222C143589142 @default.
• W2163089222 hasConceptScore W2163089222C153209595 @default.
• W2163089222 hasConceptScore W2163089222C180754005 @default.
• W2163089222 hasConceptScore W2163089222C190789776 @default.
• W2163089222 hasConceptScore W2163089222C2777542201 @default.
• W2163089222 hasConceptScore W2163089222C2780074459 @default.
• W2163089222 hasConceptScore W2163089222C2908647359 @default.
• W2163089222 hasConceptScore W2163089222C30481170 @default.
• W2163089222 hasConceptScore W2163089222C35605836 @default.
• W2163089222 hasConceptScore W2163089222C54355233 @default.
• W2163089222 hasConceptScore W2163089222C61320498 @default.
• W2163089222 hasConceptScore W2163089222C71924100 @default.
• W2163089222 hasConceptScore W2163089222C84597430 @default.
• W2163089222 hasConceptScore W2163089222C86803240 @default.
• W2163089222 hasConceptScore W2163089222C99454951 @default.
• W2163089222 hasIssue "1" @default.
• W2163089222 hasLocation W21630892221 @default.
• W2163089222 hasLocation W21630892222 @default.
• W2163089222 hasLocation W21630892223 @default.
• W2163089222 hasLocation W21630892224 @default.
• W2163089222 hasOpenAccess W2163089222 @default.
• W2163089222 hasPrimaryLocation W21630892221 @default.
• W2163089222 hasRelatedWork W1977963944 @default.
• W2163089222 hasRelatedWork W2042517537 @default.
• W2163089222 hasRelatedWork W2060768610 @default.
• W2163089222 hasRelatedWork W2062203109 @default.
• W2163089222 hasRelatedWork W2067757939 @default.
• W2163089222 hasRelatedWork W2076114658 @default.
• W2163089222 hasRelatedWork W2184383592 @default.

• next