FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3048605897> ?p ?o ?g. }

• W3048605897 endingPage "2602" @default.
• W3048605897 startingPage "2602" @default.
• W3048605897 abstract "Copy number variations of the 15q11.2 region at breakpoints 1-2 (BP1-BP2) have been associated with variable phenotypes and low penetrance. Detection of such variations in the prenatal setting can result in significant parental anxiety. The clinical significance of pre- and postnatally detected 15q11.2 BP1-BP2 deletions and duplications was assessed. Of 11,004 chromosomal microarray tests performed in a single referral lab (7596 prenatal, 3408 postnatal), deletions were detected in 66 cases: 39 in prenatal tests (0.51%) and 27 in postnatal tests (0.79%). Duplications were detected in 94 cases: 62 prenatal tests (0.82%) and 32 postnatal tests (0.94%). The prevalence of deletions and duplications among clinically indicated prenatal tests (0.57% and 0.9%, respectively) did not differ significantly in comparison to unindicated tests (0.49% and 0.78%, respectively). The prevalence of deletions and duplications among postnatal tests performed for clinical indications was similar to the prevalence in healthy individuals (0.73% and 1% vs. 0.98% and 0.74%, respectively). The calculated penetrance of deletions and duplications over the background risk was 2.18% and 1.16%, respectively. We conclude that the pathogenicity of 15q11.2 BP1-BP2 deletions and duplications is low. Opting out the report of these copy number variations to both clinicians and couples should be considered." @default.
• W3048605897 created "2020-08-18" @default.
• W3048605897 creator A5000385440 @default.
• W3048605897 creator A5011505529 @default.
• W3048605897 creator A5012049207 @default.
• W3048605897 creator A5030015623 @default.
• W3048605897 creator A5031594305 @default.
• W3048605897 creator A5031767928 @default.
• W3048605897 creator A5032565656 @default.
• W3048605897 creator A5042478524 @default.
• W3048605897 creator A5051589593 @default.
• W3048605897 creator A5073302633 @default.
• W3048605897 date "2020-08-11" @default.
• W3048605897 modified "2023-10-06" @default.
• W3048605897 title "Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting?" @default.
• W3048605897 cites W1482498530 @default.
• W3048605897 cites W1557675999 @default.
• W3048605897 cites W1578646984 @default.
• W3048605897 cites W1964714903 @default.
• W3048605897 cites W1972357429 @default.
• W3048605897 cites W1976905805 @default.
• W3048605897 cites W1988254568 @default.
• W3048605897 cites W1997031801 @default.
• W3048605897 cites W2000883364 @default.
• W3048605897 cites W2010458876 @default.
• W3048605897 cites W2036775611 @default.
• W3048605897 cites W2036796020 @default.
• W3048605897 cites W2045866343 @default.
• W3048605897 cites W2063989452 @default.
• W3048605897 cites W2075314429 @default.
• W3048605897 cites W2081989700 @default.
• W3048605897 cites W2094215765 @default.
• W3048605897 cites W2103012833 @default.
• W3048605897 cites W2124821411 @default.
• W3048605897 cites W2131587128 @default.
• W3048605897 cites W2143936008 @default.
• W3048605897 cites W2147375281 @default.
• W3048605897 cites W2153170275 @default.
• W3048605897 cites W2153457297 @default.
• W3048605897 cites W2154259233 @default.
• W3048605897 cites W2551102722 @default.
• W3048605897 cites W2604781880 @default.
• W3048605897 cites W2738219537 @default.
• W3048605897 cites W2755921635 @default.
• W3048605897 cites W2905550119 @default.
• W3048605897 cites W2911317912 @default.
• W3048605897 cites W2970512107 @default.
• W3048605897 cites W2982381555 @default.
• W3048605897 cites W2983742483 @default.
• W3048605897 cites W3013314208 @default.
• W3048605897 cites W3017919069 @default.
• W3048605897 cites W3019321344 @default.
• W3048605897 doi "https://doi.org/10.3390/jcm9082602" @default.
• W3048605897 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7463673" @default.
• W3048605897 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32796639" @default.
• W3048605897 hasPublicationYear "2020" @default.
• W3048605897 type Work @default.
• W3048605897 sameAs 3048605897 @default.
• W3048605897 citedByCount "6" @default.
• W3048605897 countsByYear W30486058972021 @default.
• W3048605897 countsByYear W30486058972022 @default.
• W3048605897 crossrefType "journal-article" @default.
• W3048605897 hasAuthorship W3048605897A5000385440 @default.
• W3048605897 hasAuthorship W3048605897A5011505529 @default.
• W3048605897 hasAuthorship W3048605897A5012049207 @default.
• W3048605897 hasAuthorship W3048605897A5030015623 @default.
• W3048605897 hasAuthorship W3048605897A5031594305 @default.
• W3048605897 hasAuthorship W3048605897A5031767928 @default.
• W3048605897 hasAuthorship W3048605897A5032565656 @default.
• W3048605897 hasAuthorship W3048605897A5042478524 @default.
• W3048605897 hasAuthorship W3048605897A5051589593 @default.
• W3048605897 hasAuthorship W3048605897A5073302633 @default.
• W3048605897 hasBestOaLocation W30486058971 @default.
• W3048605897 hasConcept C104317684 @default.
• W3048605897 hasConcept C120821319 @default.
• W3048605897 hasConcept C127716648 @default.
• W3048605897 hasConcept C138626823 @default.
• W3048605897 hasConcept C141231307 @default.
• W3048605897 hasConcept C172680121 @default.
• W3048605897 hasConcept C200544954 @default.
• W3048605897 hasConcept C206936463 @default.
• W3048605897 hasConcept C2778258057 @default.
• W3048605897 hasConcept C2779234561 @default.
• W3048605897 hasConcept C54355233 @default.
• W3048605897 hasConcept C71924100 @default.
• W3048605897 hasConcept C7602840 @default.
• W3048605897 hasConcept C86803240 @default.
• W3048605897 hasConceptScore W3048605897C104317684 @default.
• W3048605897 hasConceptScore W3048605897C120821319 @default.
• W3048605897 hasConceptScore W3048605897C127716648 @default.
• W3048605897 hasConceptScore W3048605897C138626823 @default.
• W3048605897 hasConceptScore W3048605897C141231307 @default.
• W3048605897 hasConceptScore W3048605897C172680121 @default.
• W3048605897 hasConceptScore W3048605897C200544954 @default.
• W3048605897 hasConceptScore W3048605897C206936463 @default.
• W3048605897 hasConceptScore W3048605897C2778258057 @default.
• W3048605897 hasConceptScore W3048605897C2779234561 @default.
• W3048605897 hasConceptScore W3048605897C54355233 @default.

• next