Matches in SemOpenAlex for { <https://semopenalex.org/work/W4319308443> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W4319308443 endingPage "1794" @default.
- W4319308443 startingPage "1794" @default.
- W4319308443 abstract "<h3>Objective.</h3> —Almost all males with cystic fibrosis (CF) have absent vasa deferentia. It has been suggested that otherwise healthy males with congenital bilateral absence of the vas deferens (CBAVD), previously considered a distinct genetic entity, have an increased frequency of CF gene mutations. This study examined the genetic commonality of these two disorders. <h3>Design.</h3> —We typed six common CF gene mutations in 25 patients with CBAVD. Additional rare mutations were sought using single-stranded conformation polymorphisms and direct DNA sequencing. When rare mutations were found, they were sought in a large sample of both CF patients and obligate CF carriers to exclude them as polymorphisms. <h3>Setting.</h3> —All the patients presented to a male infertility clinic of a teaching hospital. <h3>Subjects.</h3> —Twenty-five unselected, unrelated azoospermic men with CBAVD, most of them of Northern European ancestry. <h3>Results.</h3> —Sixteen (64%) of the 25 men with CBAVD had at least one detectable CF mutation, 16 times the expected frequency (<i>P</i><.001). Moreover, we have thus far determined that three of these 16 men are compound heterozygotes, one of whom has a mutation not previously described. Analyses continue on patients who have yet to yield a detectable mutation. <h3>Conclusions.</h3> —Some, if not all, otherwise healthy men with CBAVD reflect a newly recognized, primarily genital, phenotype of CF. Prior to sperm aspiration to remedy infertility, CF mutation analysis should be recommended for them and their partners, as well as for their relatives. (<i>JAMA</i>. 1992;267:1794-1797)" @default.
- W4319308443 created "2023-02-08" @default.
- W4319308443 creator A5081589130 @default.
- W4319308443 date "1992-04-01" @default.
- W4319308443 modified "2023-10-14" @default.
- W4319308443 title "Congenital Bilateral Absence of the Vas Deferens" @default.
- W4319308443 doi "https://doi.org/10.1001/jama.1992.03480130110034" @default.
- W4319308443 hasPublicationYear "1992" @default.
- W4319308443 type Work @default.
- W4319308443 citedByCount "287" @default.
- W4319308443 countsByYear W43193084432012 @default.
- W4319308443 countsByYear W43193084432013 @default.
- W4319308443 countsByYear W43193084432014 @default.
- W4319308443 countsByYear W43193084432015 @default.
- W4319308443 countsByYear W43193084432016 @default.
- W4319308443 countsByYear W43193084432017 @default.
- W4319308443 countsByYear W43193084432018 @default.
- W4319308443 countsByYear W43193084432019 @default.
- W4319308443 countsByYear W43193084432020 @default.
- W4319308443 countsByYear W43193084432021 @default.
- W4319308443 countsByYear W43193084432022 @default.
- W4319308443 countsByYear W43193084432023 @default.
- W4319308443 crossrefType "journal-article" @default.
- W4319308443 hasAuthorship W4319308443A5081589130 @default.
- W4319308443 hasConcept C104317684 @default.
- W4319308443 hasConcept C12125453 @default.
- W4319308443 hasConcept C126322002 @default.
- W4319308443 hasConcept C2776938444 @default.
- W4319308443 hasConcept C2777338322 @default.
- W4319308443 hasConcept C2777688143 @default.
- W4319308443 hasConcept C2778210472 @default.
- W4319308443 hasConcept C2779234561 @default.
- W4319308443 hasConcept C3018711027 @default.
- W4319308443 hasConcept C501734568 @default.
- W4319308443 hasConcept C54355233 @default.
- W4319308443 hasConcept C71924100 @default.
- W4319308443 hasConcept C86803240 @default.
- W4319308443 hasConcept C90924648 @default.
- W4319308443 hasConceptScore W4319308443C104317684 @default.
- W4319308443 hasConceptScore W4319308443C12125453 @default.
- W4319308443 hasConceptScore W4319308443C126322002 @default.
- W4319308443 hasConceptScore W4319308443C2776938444 @default.
- W4319308443 hasConceptScore W4319308443C2777338322 @default.
- W4319308443 hasConceptScore W4319308443C2777688143 @default.
- W4319308443 hasConceptScore W4319308443C2778210472 @default.
- W4319308443 hasConceptScore W4319308443C2779234561 @default.
- W4319308443 hasConceptScore W4319308443C3018711027 @default.
- W4319308443 hasConceptScore W4319308443C501734568 @default.
- W4319308443 hasConceptScore W4319308443C54355233 @default.
- W4319308443 hasConceptScore W4319308443C71924100 @default.
- W4319308443 hasConceptScore W4319308443C86803240 @default.
- W4319308443 hasConceptScore W4319308443C90924648 @default.
- W4319308443 hasIssue "13" @default.
- W4319308443 hasLocation W43193084431 @default.
- W4319308443 hasOpenAccess W4319308443 @default.
- W4319308443 hasPrimaryLocation W43193084431 @default.
- W4319308443 hasRelatedWork W1936824566 @default.
- W4319308443 hasRelatedWork W1964792064 @default.
- W4319308443 hasRelatedWork W1971369292 @default.
- W4319308443 hasRelatedWork W2019726837 @default.
- W4319308443 hasRelatedWork W2082869441 @default.
- W4319308443 hasRelatedWork W2108614792 @default.
- W4319308443 hasRelatedWork W2110008272 @default.
- W4319308443 hasRelatedWork W2969784139 @default.
- W4319308443 hasRelatedWork W4368347811 @default.
- W4319308443 hasRelatedWork W4385230815 @default.
- W4319308443 hasVolume "267" @default.
- W4319308443 isParatext "false" @default.
- W4319308443 isRetracted "false" @default.
- W4319308443 workType "article" @default.