Matches in SemOpenAlex for { <https://semopenalex.org/work/W2146305140> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2146305140 endingPage "1623" @default.
- W2146305140 startingPage "1622" @default.
- W2146305140 abstract "The phenotypic expression in familial adenomatous polyposis (FAP) is variable. This study compares the phenotype of 27 patients with an identical 5 base pair (bp) deletion at codon 1309 with a group of 61 matched patients with FAP where knowledge of specific mutations is not available and with seven other different mutations in 24 subjects. Patients with the codon 1309 deletion have significantly more colorectal polyps at the time of colectomy than age and sex matched FAP controls (p = 0.0001). The median number of polyps in colectomy specimens of patients with the deletion at codon 1309 was 4000 (interquartile (IQ) range 3000-4875), compared with 600 (IQ range 488-1400) in the matched controls. Mutations at codon 1323, 1407, and 233 were also associated with large numbers of polyps. Desmoid disease and extracolonic cancers were more common with the mutation at codon 1309 (p = 0.003). In conclusion, there may be a correlation between a specific germline mutation and the number of large bowel polyps. There is residual heterogeneity in phenotypic expression, however, and this may result from the influence of other genes, specific environmental factors or chance." @default.
- W2146305140 created "2016-06-24" @default.
- W2146305140 creator A5004131652 @default.
- W2146305140 creator A5010796519 @default.
- W2146305140 creator A5016070886 @default.
- W2146305140 creator A5019269054 @default.
- W2146305140 creator A5025402904 @default.
- W2146305140 creator A5041248693 @default.
- W2146305140 creator A5055917555 @default.
- W2146305140 date "1994-11-01" @default.
- W2146305140 modified "2023-10-10" @default.
- W2146305140 title "Phenotypic expression in familial adenomatous polyposis: partial prediction by mutation analysis." @default.
- W2146305140 cites W2013550305 @default.
- W2146305140 cites W2034862688 @default.
- W2146305140 cites W2085403697 @default.
- W2146305140 cites W2142703736 @default.
- W2146305140 doi "https://doi.org/10.1136/gut.35.11.1622" @default.
- W2146305140 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1375624" @default.
- W2146305140 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7828985" @default.
- W2146305140 hasPublicationYear "1994" @default.
- W2146305140 type Work @default.
- W2146305140 sameAs 2146305140 @default.
- W2146305140 citedByCount "129" @default.
- W2146305140 countsByYear W21463051402012 @default.
- W2146305140 countsByYear W21463051402013 @default.
- W2146305140 countsByYear W21463051402014 @default.
- W2146305140 countsByYear W21463051402015 @default.
- W2146305140 countsByYear W21463051402016 @default.
- W2146305140 countsByYear W21463051402018 @default.
- W2146305140 countsByYear W21463051402019 @default.
- W2146305140 countsByYear W21463051402021 @default.
- W2146305140 countsByYear W21463051402022 @default.
- W2146305140 crossrefType "journal-article" @default.
- W2146305140 hasAuthorship W2146305140A5004131652 @default.
- W2146305140 hasAuthorship W2146305140A5010796519 @default.
- W2146305140 hasAuthorship W2146305140A5016070886 @default.
- W2146305140 hasAuthorship W2146305140A5019269054 @default.
- W2146305140 hasAuthorship W2146305140A5025402904 @default.
- W2146305140 hasAuthorship W2146305140A5041248693 @default.
- W2146305140 hasAuthorship W2146305140A5055917555 @default.
- W2146305140 hasBestOaLocation W21463051401 @default.
- W2146305140 hasConcept C104317684 @default.
- W2146305140 hasConcept C121608353 @default.
- W2146305140 hasConcept C126322002 @default.
- W2146305140 hasConcept C127716648 @default.
- W2146305140 hasConcept C13514818 @default.
- W2146305140 hasConcept C2776667177 @default.
- W2146305140 hasConcept C2778435480 @default.
- W2146305140 hasConcept C2780814781 @default.
- W2146305140 hasConcept C2910480691 @default.
- W2146305140 hasConcept C501734568 @default.
- W2146305140 hasConcept C526805850 @default.
- W2146305140 hasConcept C54355233 @default.
- W2146305140 hasConcept C71924100 @default.
- W2146305140 hasConcept C86803240 @default.
- W2146305140 hasConcept C90924648 @default.
- W2146305140 hasConceptScore W2146305140C104317684 @default.
- W2146305140 hasConceptScore W2146305140C121608353 @default.
- W2146305140 hasConceptScore W2146305140C126322002 @default.
- W2146305140 hasConceptScore W2146305140C127716648 @default.
- W2146305140 hasConceptScore W2146305140C13514818 @default.
- W2146305140 hasConceptScore W2146305140C2776667177 @default.
- W2146305140 hasConceptScore W2146305140C2778435480 @default.
- W2146305140 hasConceptScore W2146305140C2780814781 @default.
- W2146305140 hasConceptScore W2146305140C2910480691 @default.
- W2146305140 hasConceptScore W2146305140C501734568 @default.
- W2146305140 hasConceptScore W2146305140C526805850 @default.
- W2146305140 hasConceptScore W2146305140C54355233 @default.
- W2146305140 hasConceptScore W2146305140C71924100 @default.
- W2146305140 hasConceptScore W2146305140C86803240 @default.
- W2146305140 hasConceptScore W2146305140C90924648 @default.
- W2146305140 hasIssue "11" @default.
- W2146305140 hasLocation W21463051401 @default.
- W2146305140 hasLocation W21463051402 @default.
- W2146305140 hasLocation W21463051403 @default.
- W2146305140 hasLocation W21463051404 @default.
- W2146305140 hasLocation W21463051405 @default.
- W2146305140 hasOpenAccess W2146305140 @default.
- W2146305140 hasPrimaryLocation W21463051401 @default.
- W2146305140 hasRelatedWork W1530402712 @default.
- W2146305140 hasRelatedWork W2065350476 @default.
- W2146305140 hasRelatedWork W2121057485 @default.
- W2146305140 hasRelatedWork W2125731289 @default.
- W2146305140 hasRelatedWork W2132993604 @default.
- W2146305140 hasRelatedWork W2143066563 @default.
- W2146305140 hasRelatedWork W2149447718 @default.
- W2146305140 hasRelatedWork W2157166663 @default.
- W2146305140 hasRelatedWork W3032357680 @default.
- W2146305140 hasRelatedWork W4281386529 @default.
- W2146305140 hasVolume "35" @default.
- W2146305140 isParatext "false" @default.
- W2146305140 isRetracted "false" @default.
- W2146305140 magId "2146305140" @default.
- W2146305140 workType "article" @default.