FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2938613811> ?p ?o ?g. }

• W2938613811 abstract "Abstract Background The implementation of molecular karyotyping has resulted in an improved diagnostic yield in the genetic diagnostics of congenital anomalies, detected prenatally or after the termination of pregnancy. However, the systematic epidemiologic ascertainment of copy number variations in the etiology of congenital anomalies has not yet been sufficiently explored. Methods Consecutive fetuses, altogether 204, with major single or multiple congenital anomalies were ascertained by using the SLOCAT registry for the period from 2011 to 2015. After excluding aneuploidies by using conventional karyotyping or Quantitative Fluorescence‐Polymerase Chain Reaction, array comparative genomic hybridization was performed for the detection of copy number variations. Results We identified pathogenic or likely pathogenic copy number variations in 14 fetuses (6.8%); 2.9% in fetuses with isolated, and 3.9% in fetuses with multiple congenital anomalies. Additionally, aneuploidies and major structural chromosomal abnormalities were detected in 40.2%. Conclusion Our systematic approach of ascertaining congenital anomalies resulted in explaining the etiology of congenital anomalies in 47% of fetuses after the termination of pregnancy. By using array comparative genomic hybridization, we found that copy number variations represent an important part in the etiology of multiple, as well as isolated congenital anomalies, which indicates the importance of analyzing copy number variations in the diagnostic approach of fetuses with congenital anomalies after the termination of pregnancy." @default.
• W2938613811 created "2019-04-25" @default.
• W2938613811 creator A5000636578 @default.
• W2938613811 creator A5017712680 @default.
• W2938613811 creator A5037722418 @default.
• W2938613811 creator A5062101552 @default.
• W2938613811 creator A5064311324 @default.
• W2938613811 date "2019-04-19" @default.
• W2938613811 modified "2023-10-16" @default.
• W2938613811 title "The frequency of CNV s in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy" @default.
• W2938613811 cites W1605668612 @default.
• W2938613811 cites W1892736087 @default.
• W2938613811 cites W1897290282 @default.
• W2938613811 cites W1927939230 @default.
• W2938613811 cites W1963591795 @default.
• W2938613811 cites W1970200027 @default.
• W2938613811 cites W1982420070 @default.
• W2938613811 cites W1985630557 @default.
• W2938613811 cites W1999241273 @default.
• W2938613811 cites W2003063028 @default.
• W2938613811 cites W2022982519 @default.
• W2938613811 cites W2023604213 @default.
• W2938613811 cites W2029158880 @default.
• W2938613811 cites W2031788316 @default.
• W2938613811 cites W2042602191 @default.
• W2938613811 cites W2044575034 @default.
• W2938613811 cites W2053952465 @default.
• W2938613811 cites W2091053809 @default.
• W2938613811 cites W2092563275 @default.
• W2938613811 cites W2121761835 @default.
• W2938613811 cites W2123136185 @default.
• W2938613811 cites W2131587128 @default.
• W2938613811 cites W2144967747 @default.
• W2938613811 cites W2280847703 @default.
• W2938613811 cites W2300653949 @default.
• W2938613811 cites W2554965623 @default.
• W2938613811 cites W36186264 @default.
• W2938613811 cites W571137269 @default.
• W2938613811 doi "https://doi.org/10.1002/mgg3.658" @default.
• W2938613811 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6565594" @default.
• W2938613811 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31004418" @default.
• W2938613811 hasPublicationYear "2019" @default.
• W2938613811 type Work @default.
• W2938613811 sameAs 2938613811 @default.
• W2938613811 citedByCount "2" @default.
• W2938613811 countsByYear W29386138112020 @default.
• W2938613811 crossrefType "journal-article" @default.
• W2938613811 hasAuthorship W2938613811A5000636578 @default.
• W2938613811 hasAuthorship W2938613811A5017712680 @default.
• W2938613811 hasAuthorship W2938613811A5037722418 @default.
• W2938613811 hasAuthorship W2938613811A5062101552 @default.
• W2938613811 hasAuthorship W2938613811A5064311324 @default.
• W2938613811 hasBestOaLocation W29386138111 @default.
• W2938613811 hasConcept C104317684 @default.
• W2938613811 hasConcept C120821319 @default.
• W2938613811 hasConcept C124942203 @default.
• W2938613811 hasConcept C131872663 @default.
• W2938613811 hasConcept C137627325 @default.
• W2938613811 hasConcept C141231307 @default.
• W2938613811 hasConcept C142724271 @default.
• W2938613811 hasConcept C172680121 @default.
• W2938613811 hasConcept C2778258057 @default.
• W2938613811 hasConcept C2779234561 @default.
• W2938613811 hasConcept C2779672484 @default.
• W2938613811 hasConcept C2908647359 @default.
• W2938613811 hasConcept C30481170 @default.
• W2938613811 hasConcept C54355233 @default.
• W2938613811 hasConcept C71924100 @default.
• W2938613811 hasConcept C86803240 @default.
• W2938613811 hasConcept C99454951 @default.
• W2938613811 hasConceptScore W2938613811C104317684 @default.
• W2938613811 hasConceptScore W2938613811C120821319 @default.
• W2938613811 hasConceptScore W2938613811C124942203 @default.
• W2938613811 hasConceptScore W2938613811C131872663 @default.
• W2938613811 hasConceptScore W2938613811C137627325 @default.
• W2938613811 hasConceptScore W2938613811C141231307 @default.
• W2938613811 hasConceptScore W2938613811C142724271 @default.
• W2938613811 hasConceptScore W2938613811C172680121 @default.
• W2938613811 hasConceptScore W2938613811C2778258057 @default.
• W2938613811 hasConceptScore W2938613811C2779234561 @default.
• W2938613811 hasConceptScore W2938613811C2779672484 @default.
• W2938613811 hasConceptScore W2938613811C2908647359 @default.
• W2938613811 hasConceptScore W2938613811C30481170 @default.
• W2938613811 hasConceptScore W2938613811C54355233 @default.
• W2938613811 hasConceptScore W2938613811C71924100 @default.
• W2938613811 hasConceptScore W2938613811C86803240 @default.
• W2938613811 hasConceptScore W2938613811C99454951 @default.
• W2938613811 hasIssue "6" @default.
• W2938613811 hasLocation W29386138111 @default.
• W2938613811 hasLocation W29386138112 @default.
• W2938613811 hasLocation W29386138113 @default.
• W2938613811 hasOpenAccess W2938613811 @default.
• W2938613811 hasPrimaryLocation W29386138111 @default.
• W2938613811 hasRelatedWork W1982974623 @default.
• W2938613811 hasRelatedWork W2056752164 @default.
• W2938613811 hasRelatedWork W2087064295 @default.
• W2938613811 hasRelatedWork W2115134931 @default.
• W2938613811 hasRelatedWork W2368136628 @default.
• W2938613811 hasRelatedWork W2416190606 @default.
• W2938613811 hasRelatedWork W2938613811 @default.

• next