Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000594782> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2000594782 endingPage "9" @default.
- W2000594782 startingPage "5" @default.
- W2000594782 abstract "The title of this section, “New genetic interpretation of old diseases,” perfectly reflects the unique history of our understanding of autoinflammatory diseases (AIDs). Indeed, the main clinical feature of most AIDs is the recurrent fever, a symptom that has been extensively documented for centuries. However, the first clear description of a patient suffering from the AID prototype, familial Mediterranean fever (FMF), has only been reported in 1908, although dating studies have shown that ancestral mutations appeared in biblical times. FMF and 11 other AID genes were identified between 1997 and 2011. The patient's care has dramatically benefited from the elucidation of the molecular defect underlying similar diseases of the innate immune system. However, accumulation of present and future sequence data let us anticipate that interpretation of genetic diagnosis will be increasingly difficult." @default.
- W2000594782 created "2016-06-24" @default.
- W2000594782 creator A5025115180 @default.
- W2000594782 date "2012-11-01" @default.
- W2000594782 modified "2023-09-23" @default.
- W2000594782 title "New genetic interpretation of old diseases" @default.
- W2000594782 cites W1525971732 @default.
- W2000594782 cites W1970410801 @default.
- W2000594782 cites W1971948845 @default.
- W2000594782 cites W1978034623 @default.
- W2000594782 cites W1980442164 @default.
- W2000594782 cites W1982351193 @default.
- W2000594782 cites W1991602091 @default.
- W2000594782 cites W1995201732 @default.
- W2000594782 cites W1998386116 @default.
- W2000594782 cites W2006046051 @default.
- W2000594782 cites W2018915861 @default.
- W2000594782 cites W2028590354 @default.
- W2000594782 cites W2032365492 @default.
- W2000594782 cites W2041237375 @default.
- W2000594782 cites W2064039901 @default.
- W2000594782 cites W2069646776 @default.
- W2000594782 cites W2081823648 @default.
- W2000594782 cites W2095667188 @default.
- W2000594782 cites W2101314055 @default.
- W2000594782 cites W2116656855 @default.
- W2000594782 cites W2118787064 @default.
- W2000594782 cites W2120175946 @default.
- W2000594782 cites W2159587574 @default.
- W2000594782 cites W2167353300 @default.
- W2000594782 cites W2242165656 @default.
- W2000594782 cites W2615194403 @default.
- W2000594782 cites W2624936342 @default.
- W2000594782 doi "https://doi.org/10.1016/j.autrev.2012.07.014" @default.
- W2000594782 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22878270" @default.
- W2000594782 hasPublicationYear "2012" @default.
- W2000594782 type Work @default.
- W2000594782 sameAs 2000594782 @default.
- W2000594782 citedByCount "23" @default.
- W2000594782 countsByYear W20005947822012 @default.
- W2000594782 countsByYear W20005947822013 @default.
- W2000594782 countsByYear W20005947822014 @default.
- W2000594782 countsByYear W20005947822015 @default.
- W2000594782 countsByYear W20005947822016 @default.
- W2000594782 countsByYear W20005947822017 @default.
- W2000594782 countsByYear W20005947822019 @default.
- W2000594782 countsByYear W20005947822022 @default.
- W2000594782 countsByYear W20005947822023 @default.
- W2000594782 crossrefType "journal-article" @default.
- W2000594782 hasAuthorship W2000594782A5025115180 @default.
- W2000594782 hasConcept C142724271 @default.
- W2000594782 hasConcept C199360897 @default.
- W2000594782 hasConcept C203014093 @default.
- W2000594782 hasConcept C2779134260 @default.
- W2000594782 hasConcept C2779537928 @default.
- W2000594782 hasConcept C2908647359 @default.
- W2000594782 hasConcept C2993807623 @default.
- W2000594782 hasConcept C41008148 @default.
- W2000594782 hasConcept C527412718 @default.
- W2000594782 hasConcept C71924100 @default.
- W2000594782 hasConcept C86803240 @default.
- W2000594782 hasConcept C99454951 @default.
- W2000594782 hasConceptScore W2000594782C142724271 @default.
- W2000594782 hasConceptScore W2000594782C199360897 @default.
- W2000594782 hasConceptScore W2000594782C203014093 @default.
- W2000594782 hasConceptScore W2000594782C2779134260 @default.
- W2000594782 hasConceptScore W2000594782C2779537928 @default.
- W2000594782 hasConceptScore W2000594782C2908647359 @default.
- W2000594782 hasConceptScore W2000594782C2993807623 @default.
- W2000594782 hasConceptScore W2000594782C41008148 @default.
- W2000594782 hasConceptScore W2000594782C527412718 @default.
- W2000594782 hasConceptScore W2000594782C71924100 @default.
- W2000594782 hasConceptScore W2000594782C86803240 @default.
- W2000594782 hasConceptScore W2000594782C99454951 @default.
- W2000594782 hasIssue "1" @default.
- W2000594782 hasLocation W20005947821 @default.
- W2000594782 hasLocation W20005947822 @default.
- W2000594782 hasOpenAccess W2000594782 @default.
- W2000594782 hasPrimaryLocation W20005947821 @default.
- W2000594782 hasRelatedWork W155509664 @default.
- W2000594782 hasRelatedWork W1587578177 @default.
- W2000594782 hasRelatedWork W1972654344 @default.
- W2000594782 hasRelatedWork W2288930851 @default.
- W2000594782 hasRelatedWork W2415221617 @default.
- W2000594782 hasRelatedWork W2471371106 @default.
- W2000594782 hasRelatedWork W2914777433 @default.
- W2000594782 hasRelatedWork W2920985261 @default.
- W2000594782 hasRelatedWork W3205022660 @default.
- W2000594782 hasRelatedWork W85728284 @default.
- W2000594782 hasVolume "12" @default.
- W2000594782 isParatext "false" @default.
- W2000594782 isRetracted "false" @default.
- W2000594782 magId "2000594782" @default.
- W2000594782 workType "article" @default.