FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1979911031> ?p ?o ?g. }

• W1979911031 endingPage "62" @default.
• W1979911031 startingPage "59" @default.
• W1979911031 abstract "Joubert syndrome is an autosomal recessive disorder comprising cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The biochemical basis of the Joubert syndrome is unknown. We ascertained a cohort of 50 patients with the Joubert syndrome to evaluate the presence of associated malformations, and to initiate studies leading to the identification of the Joubert syndrome gene. Only 8% of patients had polydactyly, 4% colobomas, 2% renal cysts, and 2% had soft tissue tumors of the tongue. In addition, we evaluated the WNT1 gene as a candidate gene for the Joubert syndrome based on its expression in the developing cerebellum and an associated mutation in the swaying mouse. We searched for mutations in WNT1 in a series of Joubert syndrome patients and no mutations were detected. Our analysis suggests that mutations in WNT1 do not cause the Joubert syndrome." @default.
• W1979911031 created "2016-06-24" @default.
• W1979911031 creator A5000520544 @default.
• W1979911031 creator A5004342561 @default.
• W1979911031 creator A5053649151 @default.
• W1979911031 creator A5078501682 @default.
• W1979911031 date "1997-10-03" @default.
• W1979911031 modified "2023-10-15" @default.
• W1979911031 title "Clinical and molecular analysis in Joubert syndrome" @default.
• W1979911031 cites W1965213934 @default.
• W1979911031 cites W1965849666 @default.
• W1979911031 cites W1969402201 @default.
• W1979911031 cites W1969542959 @default.
• W1979911031 cites W1977544443 @default.
• W1979911031 cites W1991771956 @default.
• W1979911031 cites W2006731151 @default.
• W1979911031 cites W2023807300 @default.
• W1979911031 cites W2028192876 @default.
• W1979911031 cites W2028786915 @default.
• W1979911031 cites W2030342280 @default.
• W1979911031 cites W2030448105 @default.
• W1979911031 cites W2033203954 @default.
• W1979911031 cites W2035851576 @default.
• W1979911031 cites W2041103176 @default.
• W1979911031 cites W2048936134 @default.
• W1979911031 cites W2064485297 @default.
• W1979911031 cites W2066903680 @default.
• W1979911031 cites W2074590805 @default.
• W1979911031 cites W2077881645 @default.
• W1979911031 cites W2092603007 @default.
• W1979911031 cites W2111334408 @default.
• W1979911031 cites W2128042564 @default.
• W1979911031 cites W2165781463 @default.
• W1979911031 cites W2168772524 @default.
• W1979911031 cites W2169489543 @default.
• W1979911031 cites W4211089574 @default.
• W1979911031 cites W4229770440 @default.
• W1979911031 doi "https://doi.org/10.1002/(sici)1096-8628(19971003)72:1<59::aid-ajmg12>3.0.co;2-t" @default.
• W1979911031 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9295076" @default.
• W1979911031 hasPublicationYear "1997" @default.
• W1979911031 type Work @default.
• W1979911031 sameAs 1979911031 @default.
• W1979911031 citedByCount "58" @default.
• W1979911031 countsByYear W19799110312012 @default.
• W1979911031 countsByYear W19799110312013 @default.
• W1979911031 countsByYear W19799110312014 @default.
• W1979911031 countsByYear W19799110312015 @default.
• W1979911031 countsByYear W19799110312016 @default.
• W1979911031 countsByYear W19799110312018 @default.
• W1979911031 countsByYear W19799110312019 @default.
• W1979911031 countsByYear W19799110312020 @default.
• W1979911031 countsByYear W19799110312021 @default.
• W1979911031 countsByYear W19799110312022 @default.
• W1979911031 crossrefType "journal-article" @default.
• W1979911031 hasAuthorship W1979911031A5000520544 @default.
• W1979911031 hasAuthorship W1979911031A5004342561 @default.
• W1979911031 hasAuthorship W1979911031A5053649151 @default.
• W1979911031 hasAuthorship W1979911031A5078501682 @default.
• W1979911031 hasConcept C104317684 @default.
• W1979911031 hasConcept C105702510 @default.
• W1979911031 hasConcept C127716648 @default.
• W1979911031 hasConcept C134018914 @default.
• W1979911031 hasConcept C142724271 @default.
• W1979911031 hasConcept C2775984644 @default.
• W1979911031 hasConcept C2777267824 @default.
• W1979911031 hasConcept C2777386794 @default.
• W1979911031 hasConcept C2777943302 @default.
• W1979911031 hasConcept C2779546488 @default.
• W1979911031 hasConcept C2779652256 @default.
• W1979911031 hasConcept C2780327212 @default.
• W1979911031 hasConcept C2780561973 @default.
• W1979911031 hasConcept C54355233 @default.
• W1979911031 hasConcept C71924100 @default.
• W1979911031 hasConcept C86803240 @default.
• W1979911031 hasConceptScore W1979911031C104317684 @default.
• W1979911031 hasConceptScore W1979911031C105702510 @default.
• W1979911031 hasConceptScore W1979911031C127716648 @default.
• W1979911031 hasConceptScore W1979911031C134018914 @default.
• W1979911031 hasConceptScore W1979911031C142724271 @default.
• W1979911031 hasConceptScore W1979911031C2775984644 @default.
• W1979911031 hasConceptScore W1979911031C2777267824 @default.
• W1979911031 hasConceptScore W1979911031C2777386794 @default.
• W1979911031 hasConceptScore W1979911031C2777943302 @default.
• W1979911031 hasConceptScore W1979911031C2779546488 @default.
• W1979911031 hasConceptScore W1979911031C2779652256 @default.
• W1979911031 hasConceptScore W1979911031C2780327212 @default.
• W1979911031 hasConceptScore W1979911031C2780561973 @default.
• W1979911031 hasConceptScore W1979911031C54355233 @default.
• W1979911031 hasConceptScore W1979911031C71924100 @default.
• W1979911031 hasConceptScore W1979911031C86803240 @default.
• W1979911031 hasIssue "1" @default.
• W1979911031 hasLocation W19799110311 @default.
• W1979911031 hasLocation W19799110312 @default.
• W1979911031 hasOpenAccess W1979911031 @default.
• W1979911031 hasPrimaryLocation W19799110311 @default.
• W1979911031 hasRelatedWork W1980256495 @default.
• W1979911031 hasRelatedWork W2038209352 @default.
• W1979911031 hasRelatedWork W2117687478 @default.

• next