FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2115256241> ?p ?o ?g. }

• W2115256241 abstract "Abstract Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder with an increased susceptibility to develop both benign and malignant tumors but with a wide spectrum of inter and intrafamilial clinical variability. The establishment of genotype-phenotype associations in NF1 is potentially useful for targeted therapeutic intervention but has generally been unsuccessful, apart from small subsets of molecularly defined patients. The objective of this study was to evaluate the clinical phenotype associated with the specific types of NF1 mutation in a retrospectively recorded clinical dataset comprising 149 NF1 mutation-known individuals from unrelated families. Each patient was assessed for ten NF1-related clinical features, including the number of café-au-lait spots, cutaneous and subcutaneous neurofibromas and the presence/absence of intertriginous skin freckling, Lisch nodules, plexiform and spinal neurofibromas, optic gliomas, other neoplasms (in particular CNS gliomas, malignant peripheral nerve sheath tumors (MPNSTs), juvenile myelomonocytic leukemia, rhabdomyosarcoma, phaechromocytoma, gastrointestinal stromal tumors, juvenile xanthogranuloma, and lipoma) and evidence of learning difficulties. Gender and age at examination were also recorded. Patients were subcategorized according to their associated NF1 germ line mutations: frame shift deletions (52), splice-site mutations (23), nonsense mutations (36), missense mutations (32) and other types of mutation (6). A significant association was apparent between possession of a splice-site mutation and the presence of brain gliomas and MPNSTs ( p = 0.006). If confirmed, these findings are likely to be clinically important since up to a third of NF1 patients harbor splice-site mutations. A significant influence of gender was also observed on the number of subcutaneous neurofibromas (females, p = 0.009) and preschool learning difficulties (females, p = 0.022)." @default.
• W2115256241 created "2016-06-24" @default.
• W2115256241 creator A5016599679 @default.
• W2115256241 creator A5039658454 @default.
• W2115256241 creator A5042325315 @default.
• W2115256241 creator A5042443600 @default.
• W2115256241 creator A5050030530 @default.
• W2115256241 date "2012-08-13" @default.
• W2115256241 modified "2023-10-13" @default.
• W2115256241 title "Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?" @default.
• W2115256241 cites W128563030 @default.
• W2115256241 cites W1520847816 @default.
• W2115256241 cites W1578990729 @default.
• W2115256241 cites W1970041112 @default.
• W2115256241 cites W1970155584 @default.
• W2115256241 cites W1970299412 @default.
• W2115256241 cites W1978222675 @default.
• W2115256241 cites W1978306526 @default.
• W2115256241 cites W1978601812 @default.
• W2115256241 cites W1982686493 @default.
• W2115256241 cites W1996711982 @default.
• W2115256241 cites W1997887695 @default.
• W2115256241 cites W2002066999 @default.
• W2115256241 cites W2002268177 @default.
• W2115256241 cites W2005508652 @default.
• W2115256241 cites W2010908768 @default.
• W2115256241 cites W2013355993 @default.
• W2115256241 cites W2022971724 @default.
• W2115256241 cites W2026686051 @default.
• W2115256241 cites W2034247238 @default.
• W2115256241 cites W2044068890 @default.
• W2115256241 cites W2044976670 @default.
• W2115256241 cites W2048928119 @default.
• W2115256241 cites W2049225812 @default.
• W2115256241 cites W2059986841 @default.
• W2115256241 cites W2061129102 @default.
• W2115256241 cites W2065053736 @default.
• W2115256241 cites W2066209628 @default.
• W2115256241 cites W2066278568 @default.
• W2115256241 cites W2070287558 @default.
• W2115256241 cites W2071192086 @default.
• W2115256241 cites W2071412715 @default.
• W2115256241 cites W2093225451 @default.
• W2115256241 cites W2093252544 @default.
• W2115256241 cites W2097794378 @default.
• W2115256241 cites W2105518445 @default.
• W2115256241 cites W2111090400 @default.
• W2115256241 cites W2128496796 @default.
• W2115256241 cites W2133430161 @default.
• W2115256241 cites W2137888858 @default.
• W2115256241 cites W2140078585 @default.
• W2115256241 cites W2148041476 @default.
• W2115256241 cites W2155385532 @default.
• W2115256241 cites W2170029524 @default.
• W2115256241 cites W2170946947 @default.
• W2115256241 cites W2171756643 @default.
• W2115256241 doi "https://doi.org/10.1186/1479-7364-6-12" @default.
• W2115256241 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3528442" @default.
• W2115256241 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23244495" @default.
• W2115256241 hasPublicationYear "2012" @default.
• W2115256241 type Work @default.
• W2115256241 sameAs 2115256241 @default.
• W2115256241 citedByCount "49" @default.
• W2115256241 countsByYear W21152562412013 @default.
• W2115256241 countsByYear W21152562412014 @default.
• W2115256241 countsByYear W21152562412015 @default.
• W2115256241 countsByYear W21152562412016 @default.
• W2115256241 countsByYear W21152562412017 @default.
• W2115256241 countsByYear W21152562412018 @default.
• W2115256241 countsByYear W21152562412019 @default.
• W2115256241 countsByYear W21152562412020 @default.
• W2115256241 countsByYear W21152562412021 @default.
• W2115256241 countsByYear W21152562412022 @default.
• W2115256241 countsByYear W21152562412023 @default.
• W2115256241 crossrefType "journal-article" @default.
• W2115256241 hasAuthorship W2115256241A5016599679 @default.
• W2115256241 hasAuthorship W2115256241A5039658454 @default.
• W2115256241 hasAuthorship W2115256241A5042325315 @default.
• W2115256241 hasAuthorship W2115256241A5042443600 @default.
• W2115256241 hasAuthorship W2115256241A5050030530 @default.
• W2115256241 hasBestOaLocation W21152562411 @default.
• W2115256241 hasConcept C104317684 @default.
• W2115256241 hasConcept C13514818 @default.
• W2115256241 hasConcept C142724271 @default.
• W2115256241 hasConcept C143998085 @default.
• W2115256241 hasConcept C194583182 @default.
• W2115256241 hasConcept C2777645581 @default.
• W2115256241 hasConcept C2777831590 @default.
• W2115256241 hasConcept C2778173781 @default.
• W2115256241 hasConcept C2778984943 @default.
• W2115256241 hasConcept C2779134260 @default.
• W2115256241 hasConcept C2909023644 @default.
• W2115256241 hasConcept C2910357046 @default.
• W2115256241 hasConcept C36823959 @default.
• W2115256241 hasConcept C501734568 @default.
• W2115256241 hasConcept C502942594 @default.
• W2115256241 hasConcept C54355233 @default.
• W2115256241 hasConcept C62257209 @default.
• W2115256241 hasConcept C71924100 @default.
• W2115256241 hasConcept C75563809 @default.

• next