FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4362523467> ?p ?o ?g. }

• W4362523467 abstract "Abstract A meta‐analysis on seven large case series (>1000 cases) of chromosome microarray analysis (CMA) on products of conceptions (POC) evaluated the diagnostic yields of genomic disorders and syndromic pathogenic copy number variants (pCNVs) from a collection of 35,130 POC cases. CMA detected chromosomal abnormalities and pCNVs in approximately 50% and 2.5% of cases, respectively. The genomic disorders and syndromic pCNVs accounted for 31% of the detected pCNVs, and their incidences in POC ranged from 1/750 to 1/12,000. The newborn incidences of these genomic disorders and syndromic pCNVs were estimated in a range of 1/4000 to 1/50,000 live births from population genetic studies and diagnostic yields of a large case series of 32,587 pediatric patients. The risk of spontaneous abortion (SAB) for DiGeorge syndrome (DGS), Wolf–Hirschhorn syndrome (WHS), and William–Beuren syndrome (WBS) was 42%, 33%, and 21%, respectively. The estimated overall risk of SAB for major genomic disorders and syndromic pCNVs was approximately 38%, which was significantly lower than the 94% overall risk of SAB for chromosomal abnormalities. Further classification on levels of risk of SAB to high (>75%), intermediate (51%–75%), and low (26%–50%) for known chromosomal abnormalities, genomic disorders, and syndromic pCNVs could provide evidence‐based interpretation in prenatal diagnosis and genetic counseling." @default.
• W4362523467 created "2023-04-06" @default.
• W4362523467 creator A5004084077 @default.
• W4362523467 creator A5022553879 @default.
• W4362523467 creator A5043017594 @default.
• W4362523467 creator A5047351745 @default.
• W4362523467 creator A5056945892 @default.
• W4362523467 creator A5073212927 @default.
• W4362523467 creator A5074828414 @default.
• W4362523467 creator A5076954489 @default.
• W4362523467 date "2023-04-04" @default.
• W4362523467 modified "2023-09-25" @default.
• W4362523467 title "Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses" @default.
• W4362523467 cites W1502794372 @default.
• W4362523467 cites W1823173687 @default.
• W4362523467 cites W1963641494 @default.
• W4362523467 cites W1980220830 @default.
• W4362523467 cites W1990405213 @default.
• W4362523467 cites W2003538821 @default.
• W4362523467 cites W2012164691 @default.
• W4362523467 cites W2013498101 @default.
• W4362523467 cites W2013983432 @default.
• W4362523467 cites W2032989977 @default.
• W4362523467 cites W2050585818 @default.
• W4362523467 cites W2063989452 @default.
• W4362523467 cites W2066918107 @default.
• W4362523467 cites W2073005651 @default.
• W4362523467 cites W2073295417 @default.
• W4362523467 cites W2098197197 @default.
• W4362523467 cites W2105775111 @default.
• W4362523467 cites W2126930838 @default.
• W4362523467 cites W2129620440 @default.
• W4362523467 cites W2169687970 @default.
• W4362523467 cites W2253685848 @default.
• W4362523467 cites W2269586205 @default.
• W4362523467 cites W2470310436 @default.
• W4362523467 cites W2557686525 @default.
• W4362523467 cites W2593961416 @default.
• W4362523467 cites W2594011841 @default.
• W4362523467 cites W2766691075 @default.
• W4362523467 cites W2767814753 @default.
• W4362523467 cites W2799691429 @default.
• W4362523467 cites W2903601158 @default.
• W4362523467 cites W2983742483 @default.
• W4362523467 cites W2988395091 @default.
• W4362523467 cites W2990337440 @default.
• W4362523467 cites W3005248479 @default.
• W4362523467 cites W3021290330 @default.
• W4362523467 cites W3033476030 @default.
• W4362523467 cites W3092984652 @default.
• W4362523467 cites W3093772749 @default.
• W4362523467 cites W3119029538 @default.
• W4362523467 cites W3151104752 @default.
• W4362523467 cites W4220941039 @default.
• W4362523467 cites W4225253114 @default.
• W4362523467 cites W4226083075 @default.
• W4362523467 cites W4229331713 @default.
• W4362523467 cites W4293770833 @default.
• W4362523467 cites W4362523467 @default.
• W4362523467 doi "https://doi.org/10.1002/mgg3.2181" @default.
• W4362523467 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37013615" @default.
• W4362523467 hasPublicationYear "2023" @default.
• W4362523467 type Work @default.
• W4362523467 citedByCount "1" @default.
• W4362523467 countsByYear W43625234672023 @default.
• W4362523467 crossrefType "journal-article" @default.
• W4362523467 hasAuthorship W4362523467A5004084077 @default.
• W4362523467 hasAuthorship W4362523467A5022553879 @default.
• W4362523467 hasAuthorship W4362523467A5043017594 @default.
• W4362523467 hasAuthorship W4362523467A5047351745 @default.
• W4362523467 hasAuthorship W4362523467A5056945892 @default.
• W4362523467 hasAuthorship W4362523467A5073212927 @default.
• W4362523467 hasAuthorship W4362523467A5074828414 @default.
• W4362523467 hasAuthorship W4362523467A5076954489 @default.
• W4362523467 hasBestOaLocation W43625234671 @default.
• W4362523467 hasConcept C104317684 @default.
• W4362523467 hasConcept C120821319 @default.
• W4362523467 hasConcept C124942203 @default.
• W4362523467 hasConcept C126322002 @default.
• W4362523467 hasConcept C141231307 @default.
• W4362523467 hasConcept C150194340 @default.
• W4362523467 hasConcept C172680121 @default.
• W4362523467 hasConcept C186836561 @default.
• W4362523467 hasConcept C2778258057 @default.
• W4362523467 hasConcept C2779234561 @default.
• W4362523467 hasConcept C2779688345 @default.
• W4362523467 hasConcept C2908647359 @default.
• W4362523467 hasConcept C30481170 @default.
• W4362523467 hasConcept C54355233 @default.
• W4362523467 hasConcept C60644358 @default.
• W4362523467 hasConcept C71924100 @default.
• W4362523467 hasConcept C86803240 @default.
• W4362523467 hasConcept C95190672 @default.
• W4362523467 hasConcept C99454951 @default.
• W4362523467 hasConceptScore W4362523467C104317684 @default.
• W4362523467 hasConceptScore W4362523467C120821319 @default.
• W4362523467 hasConceptScore W4362523467C124942203 @default.
• W4362523467 hasConceptScore W4362523467C126322002 @default.
• W4362523467 hasConceptScore W4362523467C141231307 @default.
• W4362523467 hasConceptScore W4362523467C150194340 @default.

• next