FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2009495422> ?p ?o ?g. }

• W2009495422 abstract "Summary The paper describes the experience of the Genetic Diagnostic Laboratory in prenatal testing for haemophilia A, an X‐linked recessive disease caused by mutations in the F 8 gene. Knowledge of a familial mutation prior to pregnancy can benefit prenatal diagnosis and decrease wait time for molecular testing during pregnancy. This is a retrospective review of a series of pregnant women who pursued F 8 gene testing from December 1997 through May 2012, highlighting three cases, which demonstrate the technical complexities of analysis and the implications of not knowing carrier status prior to pregnancy. Mutations of the F 8 gene were detected in affected males, obligate female carriers and suspected female carriers by DNA sequencing, inverse‐ PCR , qRT‐ PCR , Southern blot and exonic dosage analysis. The same methods were used to analyse prenatal samples from obligate or suspected female carriers upon request. Maternal cell contamination studies were performed for all prenatal samples analysed. Ninety‐nine women pursued F 8 testing during pregnancy, either for carrier status alone or carrier status and prenatal diagnosis. Ninety‐one women (91%) requested carrier testing because they did not know their F 8 mutation carrier status prior to pregnancy. Eight women requested prenatal diagnosis only, and only 4 of these were aware of their mutation status. Thirty‐seven individuals were found to be mutation carriers. Forty‐two prenatal samples were received for prenatal diagnosis. In total 21 foetuses were identified as mutation carriers. Mutation detection was complex and increased the turnaround time in some cases. Only four of 99 women who submitted samples for F 8 testing were aware of their F 8 mutation status prior to pregnancy. Knowledge of F 8 mutation status prior to pregnancy allows for efficient prenatal diagnosis, when desired. Thus, preconception genetic counselling is required to inform patients of the available options and the complex and time‐consuming nature of F 8 testing." @default.
• W2009495422 created "2016-06-24" @default.
• W2009495422 creator A5046116547 @default.
• W2009495422 creator A5052083515 @default.
• W2009495422 creator A5054619519 @default.
• W2009495422 creator A5064371833 @default.
• W2009495422 creator A5082184763 @default.
• W2009495422 date "2014-09-06" @default.
• W2009495422 modified "2023-09-27" @default.
• W2009495422 title "Prenatal diagnosis in haemophilia A: experience of the genetic diagnostic laboratory" @default.
• W2009495422 cites W1511217200 @default.
• W2009495422 cites W1530889362 @default.
• W2009495422 cites W1977639214 @default.
• W2009495422 cites W1997760245 @default.
• W2009495422 cites W2012591885 @default.
• W2009495422 cites W2052218777 @default.
• W2009495422 cites W2070520714 @default.
• W2009495422 cites W2074349164 @default.
• W2009495422 cites W2077580169 @default.
• W2009495422 cites W2083671281 @default.
• W2009495422 cites W2116305743 @default.
• W2009495422 cites W2125244231 @default.
• W2009495422 cites W2133959621 @default.
• W2009495422 cites W2140929133 @default.
• W2009495422 cites W2141377159 @default.
• W2009495422 cites W2167377589 @default.
• W2009495422 cites W2169611061 @default.
• W2009495422 cites W4211175281 @default.
• W2009495422 doi "https://doi.org/10.1111/hae.12517" @default.
• W2009495422 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25196590" @default.
• W2009495422 hasPublicationYear "2014" @default.
• W2009495422 type Work @default.
• W2009495422 sameAs 2009495422 @default.
• W2009495422 citedByCount "19" @default.
• W2009495422 countsByYear W20094954222016 @default.
• W2009495422 countsByYear W20094954222017 @default.
• W2009495422 countsByYear W20094954222018 @default.
• W2009495422 countsByYear W20094954222020 @default.
• W2009495422 countsByYear W20094954222021 @default.
• W2009495422 crossrefType "journal-article" @default.
• W2009495422 hasAuthorship W2009495422A5046116547 @default.
• W2009495422 hasAuthorship W2009495422A5052083515 @default.
• W2009495422 hasAuthorship W2009495422A5054619519 @default.
• W2009495422 hasAuthorship W2009495422A5064371833 @default.
• W2009495422 hasAuthorship W2009495422A5082184763 @default.
• W2009495422 hasConcept C104317684 @default.
• W2009495422 hasConcept C126322002 @default.
• W2009495422 hasConcept C131872663 @default.
• W2009495422 hasConcept C137916694 @default.
• W2009495422 hasConcept C142724271 @default.
• W2009495422 hasConcept C152110520 @default.
• W2009495422 hasConcept C158951850 @default.
• W2009495422 hasConcept C172680121 @default.
• W2009495422 hasConcept C187212893 @default.
• W2009495422 hasConcept C2776555163 @default.
• W2009495422 hasConcept C2777232031 @default.
• W2009495422 hasConcept C2777966818 @default.
• W2009495422 hasConcept C2778258057 @default.
• W2009495422 hasConcept C2778385053 @default.
• W2009495422 hasConcept C2779134260 @default.
• W2009495422 hasConcept C2779234561 @default.
• W2009495422 hasConcept C2780673598 @default.
• W2009495422 hasConcept C2994225774 @default.
• W2009495422 hasConcept C501734568 @default.
• W2009495422 hasConcept C54355233 @default.
• W2009495422 hasConcept C71924100 @default.
• W2009495422 hasConcept C80227256 @default.
• W2009495422 hasConcept C86803240 @default.
• W2009495422 hasConceptScore W2009495422C104317684 @default.
• W2009495422 hasConceptScore W2009495422C126322002 @default.
• W2009495422 hasConceptScore W2009495422C131872663 @default.
• W2009495422 hasConceptScore W2009495422C137916694 @default.
• W2009495422 hasConceptScore W2009495422C142724271 @default.
• W2009495422 hasConceptScore W2009495422C152110520 @default.
• W2009495422 hasConceptScore W2009495422C158951850 @default.
• W2009495422 hasConceptScore W2009495422C172680121 @default.
• W2009495422 hasConceptScore W2009495422C187212893 @default.
• W2009495422 hasConceptScore W2009495422C2776555163 @default.
• W2009495422 hasConceptScore W2009495422C2777232031 @default.
• W2009495422 hasConceptScore W2009495422C2777966818 @default.
• W2009495422 hasConceptScore W2009495422C2778258057 @default.
• W2009495422 hasConceptScore W2009495422C2778385053 @default.
• W2009495422 hasConceptScore W2009495422C2779134260 @default.
• W2009495422 hasConceptScore W2009495422C2779234561 @default.
• W2009495422 hasConceptScore W2009495422C2780673598 @default.
• W2009495422 hasConceptScore W2009495422C2994225774 @default.
• W2009495422 hasConceptScore W2009495422C501734568 @default.
• W2009495422 hasConceptScore W2009495422C54355233 @default.
• W2009495422 hasConceptScore W2009495422C71924100 @default.
• W2009495422 hasConceptScore W2009495422C80227256 @default.
• W2009495422 hasConceptScore W2009495422C86803240 @default.
• W2009495422 hasIssue "6" @default.
• W2009495422 hasLocation W20094954221 @default.
• W2009495422 hasLocation W20094954222 @default.
• W2009495422 hasOpenAccess W2009495422 @default.
• W2009495422 hasPrimaryLocation W20094954221 @default.
• W2009495422 hasRelatedWork W1994869754 @default.
• W2009495422 hasRelatedWork W2070436641 @default.
• W2009495422 hasRelatedWork W2111644565 @default.
• W2009495422 hasRelatedWork W2544236909 @default.

• next