Matches in SemOpenAlex for { <https://semopenalex.org/work/W44587098> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W44587098 endingPage "15" @default.
- W44587098 startingPage "3" @default.
- W44587098 abstract "Abstract DNA testing for Fragile X syndrome is now routinely available through a large number of diagnostic laboratories. We have surveyed individuals from British Columbia Fragile X families identified prior to the availability of DNA testing for FMR1 to determine if they are subsequently receiving information about DNA testing. Of the 78 individuals first seen before the cloning of the FMR1 gene, 39 (50%) had not been seen in the clinic to discuss DNA testing. We initiated a contact program with these 39 patients to determine their interest in DNA testing. Contact was made with 28 individuals, 20 of whom stated interest in testing either for themselves or for a relative. Patient opinions about DNA testing were assessed through questionnaires. In those individuals who stated an interest in DNA testing, the most common reason for wishing testing was to provide information to children or grandchildren. The most common disadvantages of testing indicated by this group were that they had finished their families and that they felt the test would not have a direct impact. The most common reasons individuals were not interested in DNA testing were that there were no family members appropriate to test and that the respondent had completed his or her family. DNA testing has been performed for 13 of the 28 (46%) contacted individuals and/or at least one relative. In view of the high level of interest for testing in families who had not been seen since the cloning of the FMR1 gene, we feel that FMR1 screening programs should include actively contacting previously seen individuals." @default.
- W44587098 created "2016-06-24" @default.
- W44587098 creator A5009535533 @default.
- W44587098 creator A5032462944 @default.
- W44587098 creator A5035925359 @default.
- W44587098 creator A5064542125 @default.
- W44587098 creator A5064131170 @default.
- W44587098 date "1999-02-01" @default.
- W44587098 modified "2023-09-27" @default.
- W44587098 title "Duty to Re-Contact: A Study of Families at Risk for Fragile X" @default.
- W44587098 cites W1977229984 @default.
- W44587098 cites W1977283045 @default.
- W44587098 cites W1978985592 @default.
- W44587098 cites W1989187665 @default.
- W44587098 cites W1992019090 @default.
- W44587098 cites W2051013729 @default.
- W44587098 cites W2097927344 @default.
- W44587098 cites W2100770813 @default.
- W44587098 cites W2149919973 @default.
- W44587098 cites W2167119720 @default.
- W44587098 doi "https://doi.org/10.1023/a:1022878402764" @default.
- W44587098 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11657178" @default.
- W44587098 hasPublicationYear "1999" @default.
- W44587098 type Work @default.
- W44587098 sameAs 44587098 @default.
- W44587098 citedByCount "9" @default.
- W44587098 countsByYear W445870982013 @default.
- W44587098 countsByYear W445870982015 @default.
- W44587098 countsByYear W445870982016 @default.
- W44587098 countsByYear W445870982018 @default.
- W44587098 countsByYear W445870982019 @default.
- W44587098 crossrefType "journal-article" @default.
- W44587098 hasAuthorship W44587098A5009535533 @default.
- W44587098 hasAuthorship W44587098A5032462944 @default.
- W44587098 hasAuthorship W44587098A5035925359 @default.
- W44587098 hasAuthorship W44587098A5064131170 @default.
- W44587098 hasAuthorship W44587098A5064542125 @default.
- W44587098 hasBestOaLocation W445870981 @default.
- W44587098 hasConcept C118552586 @default.
- W44587098 hasConcept C126322002 @default.
- W44587098 hasConcept C151730666 @default.
- W44587098 hasConcept C17744445 @default.
- W44587098 hasConcept C199539241 @default.
- W44587098 hasConcept C2776640315 @default.
- W44587098 hasConcept C2777267654 @default.
- W44587098 hasConcept C2777630245 @default.
- W44587098 hasConcept C2780673598 @default.
- W44587098 hasConcept C2994273702 @default.
- W44587098 hasConcept C512399662 @default.
- W44587098 hasConcept C54355233 @default.
- W44587098 hasConcept C71924100 @default.
- W44587098 hasConcept C86803240 @default.
- W44587098 hasConceptScore W44587098C118552586 @default.
- W44587098 hasConceptScore W44587098C126322002 @default.
- W44587098 hasConceptScore W44587098C151730666 @default.
- W44587098 hasConceptScore W44587098C17744445 @default.
- W44587098 hasConceptScore W44587098C199539241 @default.
- W44587098 hasConceptScore W44587098C2776640315 @default.
- W44587098 hasConceptScore W44587098C2777267654 @default.
- W44587098 hasConceptScore W44587098C2777630245 @default.
- W44587098 hasConceptScore W44587098C2780673598 @default.
- W44587098 hasConceptScore W44587098C2994273702 @default.
- W44587098 hasConceptScore W44587098C512399662 @default.
- W44587098 hasConceptScore W44587098C54355233 @default.
- W44587098 hasConceptScore W44587098C71924100 @default.
- W44587098 hasConceptScore W44587098C86803240 @default.
- W44587098 hasIssue "1" @default.
- W44587098 hasLocation W445870981 @default.
- W44587098 hasLocation W445870982 @default.
- W44587098 hasOpenAccess W44587098 @default.
- W44587098 hasPrimaryLocation W445870981 @default.
- W44587098 hasRelatedWork W1941644192 @default.
- W44587098 hasRelatedWork W2021675877 @default.
- W44587098 hasRelatedWork W2022472203 @default.
- W44587098 hasRelatedWork W2063127778 @default.
- W44587098 hasRelatedWork W2065139344 @default.
- W44587098 hasRelatedWork W2071771669 @default.
- W44587098 hasRelatedWork W2097927344 @default.
- W44587098 hasRelatedWork W2109864739 @default.
- W44587098 hasRelatedWork W4307397911 @default.
- W44587098 hasRelatedWork W44587098 @default.
- W44587098 hasVolume "8" @default.
- W44587098 isParatext "false" @default.
- W44587098 isRetracted "false" @default.
- W44587098 magId "44587098" @default.
- W44587098 workType "article" @default.