FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1823173687> ?p ?o ?g. }

• W1823173687 endingPage "809" @default.
• W1823173687 startingPage "801" @default.
• W1823173687 abstract "The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal BACs-on-Beads(TM) (PNBoBs(TM) ) have thus been applied. The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBs(TM) under different prenatal indications.A total of 9648 prenatal samples were prospectively analyzed by karyotyping plus PNBoBs(TM) and classified by prenatal indication. The frequencies of the genomic defects and their 95%CIs were calculated for each indication.The overall incidence of cryptic imbalances was 0.7%. The majority involved the DiGeorge syndrome critical region (DGS). The additional diagnostic yield of PNBoBs(TM) in the population with a low a priori risk was 1/298. The prevalences of DGS microdeletion and microduplication in the low-risk population were 1/992 and 1/850, respectively.The constant a priori risk for common pathogenic cryptic imbalances detected by this technology is estimated to be ~0.3%. A prevalence higher than that previously estimated was found for the 22q11.2 microdeletion. Their frequencies were independent of maternal age. These data have implications for cell-free DNA screening tests design and justify prenatal screening for 22q11 deletion, as early recognition of DGS improves its prognosis." @default.
• W1823173687 created "2016-06-24" @default.
• W1823173687 creator A5001771889 @default.
• W1823173687 creator A5007207417 @default.
• W1823173687 creator A5009957728 @default.
• W1823173687 creator A5013020381 @default.
• W1823173687 creator A5013365941 @default.
• W1823173687 creator A5013410178 @default.
• W1823173687 creator A5016134987 @default.
• W1823173687 creator A5017431965 @default.
• W1823173687 creator A5022838050 @default.
• W1823173687 creator A5024549593 @default.
• W1823173687 creator A5029919971 @default.
• W1823173687 creator A5038412081 @default.
• W1823173687 creator A5038436615 @default.
• W1823173687 creator A5049790582 @default.
• W1823173687 creator A5053909568 @default.
• W1823173687 creator A5054667253 @default.
• W1823173687 creator A5055445201 @default.
• W1823173687 creator A5058181779 @default.
• W1823173687 creator A5063880940 @default.
• W1823173687 creator A5066999760 @default.
• W1823173687 creator A5069934777 @default.
• W1823173687 creator A5070125874 @default.
• W1823173687 creator A5071142443 @default.
• W1823173687 creator A5083642645 @default.
• W1823173687 creator A5084629463 @default.
• W1823173687 date "2015-06-24" @default.
• W1823173687 modified "2023-10-18" @default.
• W1823173687 title "Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies" @default.
• W1823173687 cites W1528915864 @default.
• W1823173687 cites W1809088741 @default.
• W1823173687 cites W1896227630 @default.
• W1823173687 cites W1948260855 @default.
• W1823173687 cites W1965573357 @default.
• W1823173687 cites W1980220830 @default.
• W1823173687 cites W2008322232 @default.
• W1823173687 cites W2010061657 @default.
• W1823173687 cites W2033314910 @default.
• W1823173687 cites W2052870594 @default.
• W1823173687 cites W2058622405 @default.
• W1823173687 cites W2066918107 @default.
• W1823173687 cites W2077686291 @default.
• W1823173687 cites W2080502996 @default.
• W1823173687 cites W2091991690 @default.
• W1823173687 cites W2092107133 @default.
• W1823173687 cites W2095406825 @default.
• W1823173687 cites W2096913021 @default.
• W1823173687 cites W2097000949 @default.
• W1823173687 cites W2099235089 @default.
• W1823173687 cites W2106650442 @default.
• W1823173687 cites W2130899608 @default.
• W1823173687 cites W2135934912 @default.
• W1823173687 cites W2142096687 @default.
• W1823173687 cites W2143481531 @default.
• W1823173687 cites W2144967747 @default.
• W1823173687 cites W2185511594 @default.
• W1823173687 cites W2346782022 @default.
• W1823173687 cites W4243840863 @default.
• W1823173687 doi "https://doi.org/10.1002/pd.4613" @default.
• W1823173687 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25962607" @default.
• W1823173687 hasPublicationYear "2015" @default.
• W1823173687 type Work @default.
• W1823173687 sameAs 1823173687 @default.
• W1823173687 citedByCount "224" @default.
• W1823173687 countsByYear W18231736872015 @default.
• W1823173687 countsByYear W18231736872016 @default.
• W1823173687 countsByYear W18231736872017 @default.
• W1823173687 countsByYear W18231736872018 @default.
• W1823173687 countsByYear W18231736872019 @default.
• W1823173687 countsByYear W18231736872020 @default.
• W1823173687 countsByYear W18231736872021 @default.
• W1823173687 countsByYear W18231736872022 @default.
• W1823173687 countsByYear W18231736872023 @default.
• W1823173687 crossrefType "journal-article" @default.
• W1823173687 hasAuthorship W1823173687A5001771889 @default.
• W1823173687 hasAuthorship W1823173687A5007207417 @default.
• W1823173687 hasAuthorship W1823173687A5009957728 @default.
• W1823173687 hasAuthorship W1823173687A5013020381 @default.
• W1823173687 hasAuthorship W1823173687A5013365941 @default.
• W1823173687 hasAuthorship W1823173687A5013410178 @default.
• W1823173687 hasAuthorship W1823173687A5016134987 @default.
• W1823173687 hasAuthorship W1823173687A5017431965 @default.
• W1823173687 hasAuthorship W1823173687A5022838050 @default.
• W1823173687 hasAuthorship W1823173687A5024549593 @default.
• W1823173687 hasAuthorship W1823173687A5029919971 @default.
• W1823173687 hasAuthorship W1823173687A5038412081 @default.
• W1823173687 hasAuthorship W1823173687A5038436615 @default.
• W1823173687 hasAuthorship W1823173687A5049790582 @default.
• W1823173687 hasAuthorship W1823173687A5053909568 @default.
• W1823173687 hasAuthorship W1823173687A5054667253 @default.
• W1823173687 hasAuthorship W1823173687A5055445201 @default.
• W1823173687 hasAuthorship W1823173687A5058181779 @default.
• W1823173687 hasAuthorship W1823173687A5063880940 @default.
• W1823173687 hasAuthorship W1823173687A5066999760 @default.
• W1823173687 hasAuthorship W1823173687A5069934777 @default.
• W1823173687 hasAuthorship W1823173687A5070125874 @default.
• W1823173687 hasAuthorship W1823173687A5071142443 @default.

• next