FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1514490296> ?p ?o ?g. }

• W1514490296 endingPage "54" @default.
• W1514490296 startingPage "47" @default.
• W1514490296 abstract "We performed karyotype and array comparative genomic hybridization (aCGH) analyses on 177 prenatal samples, including 162 (92%) samples from fetuses with sonographic anomalies. Overall 12 fetuses (6.8%) had abnormal karyotype and 42 (23.7%) fetuses had abnormal microarray results: 20 (11.3%) with pathogenic copy number variations (CNVs), 16 with CNVs of uncertain clinical significance, 4 with CNVs establishing carrier status for recessive, X-linked, or susceptibility to late onset dominant disease, and two CNVs with pseudomosaicism due to in vitro cultural artifacts. For 23 pregnancies (13%), aCGH contributed important new information. Our results highlight the interpretation challenges associated with CNVs of unclear significance, incidental findings, as well as technical aspects. Array CGH analysis significantly improved the detection of genomic imbalances in prenatal diagnosis of pregnancies with structural birth defects." @default.
• W1514490296 created "2016-06-24" @default.
• W1514490296 creator A5000740982 @default.
• W1514490296 creator A5013841477 @default.
• W1514490296 creator A5014917429 @default.
• W1514490296 creator A5016888668 @default.
• W1514490296 creator A5026847939 @default.
• W1514490296 creator A5028135611 @default.
• W1514490296 creator A5049097046 @default.
• W1514490296 creator A5054573446 @default.
• W1514490296 creator A5079521305 @default.
• W1514490296 creator A5080601462 @default.
• W1514490296 date "2012-11-04" @default.
• W1514490296 modified "2023-09-23" @default.
• W1514490296 title "Application of chromosomal microarray in the evaluation of abnormal prenatal findings" @default.
• W1514490296 cites W1964558503 @default.
• W1514490296 cites W1980096475 @default.
• W1514490296 cites W1996261165 @default.
• W1514490296 cites W2001398765 @default.
• W1514490296 cites W2025630208 @default.
• W1514490296 cites W2037976498 @default.
• W1514490296 cites W2047260293 @default.
• W1514490296 cites W2083215821 @default.
• W1514490296 cites W2108764418 @default.
• W1514490296 cites W2121761835 @default.
• W1514490296 cites W2157370666 @default.
• W1514490296 cites W40736208 @default.
• W1514490296 cites W4240113737 @default.
• W1514490296 doi "https://doi.org/10.1111/cge.12027" @default.
• W1514490296 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23020214" @default.
• W1514490296 hasPublicationYear "2012" @default.
• W1514490296 type Work @default.
• W1514490296 sameAs 1514490296 @default.
• W1514490296 citedByCount "34" @default.
• W1514490296 countsByYear W15144902962013 @default.
• W1514490296 countsByYear W15144902962014 @default.
• W1514490296 countsByYear W15144902962015 @default.
• W1514490296 countsByYear W15144902962016 @default.
• W1514490296 countsByYear W15144902962017 @default.
• W1514490296 countsByYear W15144902962018 @default.
• W1514490296 countsByYear W15144902962019 @default.
• W1514490296 countsByYear W15144902962020 @default.
• W1514490296 countsByYear W15144902962022 @default.
• W1514490296 crossrefType "journal-article" @default.
• W1514490296 hasAuthorship W1514490296A5000740982 @default.
• W1514490296 hasAuthorship W1514490296A5013841477 @default.
• W1514490296 hasAuthorship W1514490296A5014917429 @default.
• W1514490296 hasAuthorship W1514490296A5016888668 @default.
• W1514490296 hasAuthorship W1514490296A5026847939 @default.
• W1514490296 hasAuthorship W1514490296A5028135611 @default.
• W1514490296 hasAuthorship W1514490296A5049097046 @default.
• W1514490296 hasAuthorship W1514490296A5054573446 @default.
• W1514490296 hasAuthorship W1514490296A5079521305 @default.
• W1514490296 hasAuthorship W1514490296A5080601462 @default.
• W1514490296 hasConcept C104317684 @default.
• W1514490296 hasConcept C120821319 @default.
• W1514490296 hasConcept C124942203 @default.
• W1514490296 hasConcept C141231307 @default.
• W1514490296 hasConcept C142724271 @default.
• W1514490296 hasConcept C150194340 @default.
• W1514490296 hasConcept C172680121 @default.
• W1514490296 hasConcept C186836561 @default.
• W1514490296 hasConcept C2778258057 @default.
• W1514490296 hasConcept C2779234561 @default.
• W1514490296 hasConcept C30481170 @default.
• W1514490296 hasConcept C47042493 @default.
• W1514490296 hasConcept C53226629 @default.
• W1514490296 hasConcept C54355233 @default.
• W1514490296 hasConcept C60644358 @default.
• W1514490296 hasConcept C63363279 @default.
• W1514490296 hasConcept C71924100 @default.
• W1514490296 hasConcept C8415881 @default.
• W1514490296 hasConcept C86803240 @default.
• W1514490296 hasConceptScore W1514490296C104317684 @default.
• W1514490296 hasConceptScore W1514490296C120821319 @default.
• W1514490296 hasConceptScore W1514490296C124942203 @default.
• W1514490296 hasConceptScore W1514490296C141231307 @default.
• W1514490296 hasConceptScore W1514490296C142724271 @default.
• W1514490296 hasConceptScore W1514490296C150194340 @default.
• W1514490296 hasConceptScore W1514490296C172680121 @default.
• W1514490296 hasConceptScore W1514490296C186836561 @default.
• W1514490296 hasConceptScore W1514490296C2778258057 @default.
• W1514490296 hasConceptScore W1514490296C2779234561 @default.
• W1514490296 hasConceptScore W1514490296C30481170 @default.
• W1514490296 hasConceptScore W1514490296C47042493 @default.
• W1514490296 hasConceptScore W1514490296C53226629 @default.
• W1514490296 hasConceptScore W1514490296C54355233 @default.
• W1514490296 hasConceptScore W1514490296C60644358 @default.
• W1514490296 hasConceptScore W1514490296C63363279 @default.
• W1514490296 hasConceptScore W1514490296C71924100 @default.
• W1514490296 hasConceptScore W1514490296C8415881 @default.
• W1514490296 hasConceptScore W1514490296C86803240 @default.
• W1514490296 hasIssue "1" @default.
• W1514490296 hasLocation W15144902961 @default.
• W1514490296 hasLocation W15144902962 @default.
• W1514490296 hasOpenAccess W1514490296 @default.
• W1514490296 hasPrimaryLocation W15144902961 @default.
• W1514490296 hasRelatedWork W1514490296 @default.

• next