FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2066388082> ?p ?o ?g. }

• W2066388082 endingPage "72" @default.
• W2066388082 startingPage "68" @default.
• W2066388082 abstract "Neurofibromatosis 1 is an autosomal dominant disorder. Noonan's syndrome is known to be associated with neurofibromatoses. Patients with neurofibromatosis are predisposed to developing malignant tumors. The relationship between the genetic changes in the neurofibromin gene and mechanisms associated with tumor development in neurofibromatosis has been investigated. A non-sense mutation C2446T --> R816X of the neurofibromin gene has been detected in some patients with the neurofibromatosis 1-Noonan's syndrome phenotype. We describe a case of an infant with the overlapping features of neurofibromatosis 1 and Noonan's syndrome who presented with rhabdomyosarcoma of the urinary bladder. The genetic analysis of our patient revealed neither mutation in the neurofibromatosis 1-guanosine triphosphatase-activating protein-related domain nor the R816X nonsense mutation. The phenotypic and genotypic features of neurofibromatosis, Noonan's syndrome, and cases with the overlapping features of both syndromes have been reviewed. The presentation of our case underlines the importance of careful examination for the clinical features of neurofibromatosis and phenotypic traits of associated diseases, especially in patients with malignant tumors." @default.
• W2066388082 created "2016-06-24" @default.
• W2066388082 creator A5001302741 @default.
• W2066388082 creator A5010035528 @default.
• W2066388082 creator A5016028623 @default.
• W2066388082 creator A5019579598 @default.
• W2066388082 creator A5029598728 @default.
• W2066388082 creator A5047410101 @default.
• W2066388082 creator A5051123094 @default.
• W2066388082 creator A5065392750 @default.
• W2066388082 creator A5069057446 @default.
• W2066388082 creator A5076545650 @default.
• W2066388082 date "2003-01-01" @default.
• W2066388082 modified "2023-10-18" @default.
• W2066388082 title "Neurofibromatosis—Noonan's Syndrome With Associated Rhabdomyosarcoma of the Urinary Bladder in an Infant: Case Report" @default.
• W2066388082 cites W1964175333 @default.
• W2066388082 cites W1965654023 @default.
• W2066388082 cites W1968790666 @default.
• W2066388082 cites W1995209628 @default.
• W2066388082 cites W2022261341 @default.
• W2066388082 cites W2023823280 @default.
• W2066388082 cites W2024492397 @default.
• W2066388082 cites W2024590657 @default.
• W2066388082 cites W2043741702 @default.
• W2066388082 cites W2044192296 @default.
• W2066388082 cites W2045339882 @default.
• W2066388082 cites W2052154422 @default.
• W2066388082 cites W2052186241 @default.
• W2066388082 cites W2065005641 @default.
• W2066388082 cites W2071412715 @default.
• W2066388082 cites W2084371858 @default.
• W2066388082 cites W2095540720 @default.
• W2066388082 cites W2109487895 @default.
• W2066388082 cites W2111227250 @default.
• W2066388082 cites W2113717834 @default.
• W2066388082 cites W2123173962 @default.
• W2066388082 cites W2134822306 @default.
• W2066388082 cites W2145903182 @default.
• W2066388082 cites W2153501431 @default.
• W2066388082 cites W4239129777 @default.
• W2066388082 cites W4253368897 @default.
• W2066388082 doi "https://doi.org/10.1177/08830738030180011601" @default.
• W2066388082 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12661943" @default.
• W2066388082 hasPublicationYear "2003" @default.
• W2066388082 type Work @default.
• W2066388082 sameAs 2066388082 @default.
• W2066388082 citedByCount "16" @default.
• W2066388082 countsByYear W20663880822013 @default.
• W2066388082 countsByYear W20663880822015 @default.
• W2066388082 countsByYear W20663880822020 @default.
• W2066388082 countsByYear W20663880822023 @default.
• W2066388082 crossrefType "journal-article" @default.
• W2066388082 hasAuthorship W2066388082A5001302741 @default.
• W2066388082 hasAuthorship W2066388082A5010035528 @default.
• W2066388082 hasAuthorship W2066388082A5016028623 @default.
• W2066388082 hasAuthorship W2066388082A5019579598 @default.
• W2066388082 hasAuthorship W2066388082A5029598728 @default.
• W2066388082 hasAuthorship W2066388082A5047410101 @default.
• W2066388082 hasAuthorship W2066388082A5051123094 @default.
• W2066388082 hasAuthorship W2066388082A5065392750 @default.
• W2066388082 hasAuthorship W2066388082A5069057446 @default.
• W2066388082 hasAuthorship W2066388082A5076545650 @default.
• W2066388082 hasConcept C104317684 @default.
• W2066388082 hasConcept C127716648 @default.
• W2066388082 hasConcept C142724271 @default.
• W2066388082 hasConcept C170932241 @default.
• W2066388082 hasConcept C2776149932 @default.
• W2066388082 hasConcept C2777831590 @default.
• W2066388082 hasConcept C2778102573 @default.
• W2066388082 hasConcept C2778173781 @default.
• W2066388082 hasConcept C2778256501 @default.
• W2066388082 hasConcept C2778984943 @default.
• W2066388082 hasConcept C2779944767 @default.
• W2066388082 hasConcept C2780844630 @default.
• W2066388082 hasConcept C2781187634 @default.
• W2066388082 hasConcept C501734568 @default.
• W2066388082 hasConcept C54355233 @default.
• W2066388082 hasConcept C71924100 @default.
• W2066388082 hasConcept C75563809 @default.
• W2066388082 hasConcept C86803240 @default.
• W2066388082 hasConcept C96777560 @default.
• W2066388082 hasConceptScore W2066388082C104317684 @default.
• W2066388082 hasConceptScore W2066388082C127716648 @default.
• W2066388082 hasConceptScore W2066388082C142724271 @default.
• W2066388082 hasConceptScore W2066388082C170932241 @default.
• W2066388082 hasConceptScore W2066388082C2776149932 @default.
• W2066388082 hasConceptScore W2066388082C2777831590 @default.
• W2066388082 hasConceptScore W2066388082C2778102573 @default.
• W2066388082 hasConceptScore W2066388082C2778173781 @default.
• W2066388082 hasConceptScore W2066388082C2778256501 @default.
• W2066388082 hasConceptScore W2066388082C2778984943 @default.
• W2066388082 hasConceptScore W2066388082C2779944767 @default.
• W2066388082 hasConceptScore W2066388082C2780844630 @default.
• W2066388082 hasConceptScore W2066388082C2781187634 @default.
• W2066388082 hasConceptScore W2066388082C501734568 @default.
• W2066388082 hasConceptScore W2066388082C54355233 @default.
• W2066388082 hasConceptScore W2066388082C71924100 @default.
• W2066388082 hasConceptScore W2066388082C75563809 @default.

• next