FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2068803443> ?p ?o ?g. }

• W2068803443 endingPage "127" @default.
• W2068803443 startingPage "123" @default.
• W2068803443 abstract "Proteus syndrome is a complex hamartomatous disorder characterized by asymmetrical gigantism, epidermal nevi, vascular malformations, hamartomas, lipomas, and hyperostosis. Since the syndrome was first described, many hypotheses have been proposed to explain its occurrence. The most plausible is Happle's somatic mosaic hypothesis, but no somatic mutations in candidate genes have been reported to be clearly involved in Proteus syndrome. However, germ-line PTEN mutations have been reported in patients with Proteus and in Proteus-like disorders. Other studies of patients with Proteus syndrome have not supported these findings. In this study, affected and unaffected tissue from six patients diagnosed with Proteus syndrome were screened by direct sequencing of genomic DNA to determine if there might be an association between germ-line or somatic mutations in PTEN or GPC3 and the development of Proteus syndrome. No intra-exonic mutations were identified, indicating that neither PTEN nor GPC3 are likely to have major roles in the etiology of Proteus syndrome in our series of patients." @default.
• W2068803443 created "2016-06-24" @default.
• W2068803443 creator A5022609680 @default.
• W2068803443 creator A5027598765 @default.
• W2068803443 creator A5029874203 @default.
• W2068803443 creator A5072815495 @default.
• W2068803443 date "2004-08-28" @default.
• W2068803443 modified "2023-10-07" @default.
• W2068803443 title "Mutation analysis of the tumor suppressorPTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome" @default.
• W2068803443 cites W1566331449 @default.
• W2068803443 cites W1859677666 @default.
• W2068803443 cites W1964948442 @default.
• W2068803443 cites W1985512726 @default.
• W2068803443 cites W1989815049 @default.
• W2068803443 cites W2001598105 @default.
• W2068803443 cites W2008099291 @default.
• W2068803443 cites W2012128741 @default.
• W2068803443 cites W2013538298 @default.
• W2068803443 cites W2016778367 @default.
• W2068803443 cites W2022990845 @default.
• W2068803443 cites W2024010400 @default.
• W2068803443 cites W2025120194 @default.
• W2068803443 cites W2026715510 @default.
• W2068803443 cites W2040225703 @default.
• W2068803443 cites W2040666971 @default.
• W2068803443 cites W2042968249 @default.
• W2068803443 cites W2044095570 @default.
• W2068803443 cites W2051992319 @default.
• W2068803443 cites W2056621404 @default.
• W2068803443 cites W2060387248 @default.
• W2068803443 cites W2077996333 @default.
• W2068803443 cites W2082753662 @default.
• W2068803443 cites W2107920498 @default.
• W2068803443 cites W2110228320 @default.
• W2068803443 cites W2118182234 @default.
• W2068803443 cites W2128924606 @default.
• W2068803443 cites W2129756622 @default.
• W2068803443 cites W2132972865 @default.
• W2068803443 cites W2137969534 @default.
• W2068803443 cites W2140980266 @default.
• W2068803443 cites W2143233027 @default.
• W2068803443 cites W2150233389 @default.
• W2068803443 cites W2154267540 @default.
• W2068803443 cites W2160700807 @default.
• W2068803443 cites W2160842824 @default.
• W2068803443 cites W2168231175 @default.
• W2068803443 cites W2412105378 @default.
• W2068803443 cites W4247784107 @default.
• W2068803443 cites W4251991042 @default.
• W2068803443 cites W4322388212 @default.
• W2068803443 cites W590053452 @default.
• W2068803443 doi "https://doi.org/10.1002/ajmg.a.30335" @default.
• W2068803443 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15372512" @default.
• W2068803443 hasPublicationYear "2004" @default.
• W2068803443 type Work @default.
• W2068803443 sameAs 2068803443 @default.
• W2068803443 citedByCount "35" @default.
• W2068803443 countsByYear W20688034432012 @default.
• W2068803443 countsByYear W20688034432013 @default.
• W2068803443 countsByYear W20688034432014 @default.
• W2068803443 countsByYear W20688034432015 @default.
• W2068803443 countsByYear W20688034432016 @default.
• W2068803443 countsByYear W20688034432019 @default.
• W2068803443 countsByYear W20688034432022 @default.
• W2068803443 crossrefType "journal-article" @default.
• W2068803443 hasAuthorship W2068803443A5022609680 @default.
• W2068803443 hasAuthorship W2068803443A5027598765 @default.
• W2068803443 hasAuthorship W2068803443A5029874203 @default.
• W2068803443 hasAuthorship W2068803443A5072815495 @default.
• W2068803443 hasConcept C104317684 @default.
• W2068803443 hasConcept C109825262 @default.
• W2068803443 hasConcept C13514818 @default.
• W2068803443 hasConcept C137627325 @default.
• W2068803443 hasConcept C142724271 @default.
• W2068803443 hasConcept C190283241 @default.
• W2068803443 hasConcept C2777609662 @default.
• W2068803443 hasConcept C2777781617 @default.
• W2068803443 hasConcept C2779464495 @default.
• W2068803443 hasConcept C501734568 @default.
• W2068803443 hasConcept C502942594 @default.
• W2068803443 hasConcept C54355233 @default.
• W2068803443 hasConcept C547475151 @default.
• W2068803443 hasConcept C71924100 @default.
• W2068803443 hasConcept C86554907 @default.
• W2068803443 hasConcept C86803240 @default.
• W2068803443 hasConceptScore W2068803443C104317684 @default.
• W2068803443 hasConceptScore W2068803443C109825262 @default.
• W2068803443 hasConceptScore W2068803443C13514818 @default.
• W2068803443 hasConceptScore W2068803443C137627325 @default.
• W2068803443 hasConceptScore W2068803443C142724271 @default.
• W2068803443 hasConceptScore W2068803443C190283241 @default.
• W2068803443 hasConceptScore W2068803443C2777609662 @default.
• W2068803443 hasConceptScore W2068803443C2777781617 @default.
• W2068803443 hasConceptScore W2068803443C2779464495 @default.
• W2068803443 hasConceptScore W2068803443C501734568 @default.
• W2068803443 hasConceptScore W2068803443C502942594 @default.
• W2068803443 hasConceptScore W2068803443C54355233 @default.
• W2068803443 hasConceptScore W2068803443C547475151 @default.

• next