FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2103235584> ?p ?o ?g. }

• W2103235584 endingPage "222" @default.
• W2103235584 startingPage "213" @default.
• W2103235584 abstract "The hyperparathyroidism‐jaw tumour (HPT‐JT) syndrome is an autosomal dominant disease characterized by the occurrence of parathyroid tumours and fibro‐osseous tumours of the jaw bones. Some HPT‐JT patients may also develop renal abnormalities, which include Wilms' tumours, hamartomas and polycystic disease. The HPT‐JT gene has been mapped to chromosome 1q25‐q31, and we report the clinical and genetic findings in a kindred from central Portugal. HPT‐JT was observed in six members from three generations; all had primary hyperparathyroidism (five had parathyroid adenomas, one a parathyroid carcinoma). Ossifying jaw fibromas affecting the maxilla and/or mandible were observed in 5/6. Renal cysts (<2.5 cm) were observed in four. Genetic studies using 18 polymorphic loci from chromosome 1q25‐q31, together with leukocyte DNA from 11 family members and tumour DNA from three parathyroids (two adenomas and one carcinoma), revealed loss of tumour heterozygosity in the parathyroid carcinoma only, and the retained haplotype was found to cosegregate with the disease in the six affected members. A new Portuguese kindred with the HPT‐JT syndrome that maps to chromosome 1q25‐q31 has been identified, and these findings will help in the further characterization of this inherited disorder." @default.
• W2103235584 created "2016-06-24" @default.
• W2103235584 creator A5001103575 @default.
• W2103235584 creator A5005703946 @default.
• W2103235584 creator A5010000950 @default.
• W2103235584 creator A5011781010 @default.
• W2103235584 creator A5024166264 @default.
• W2103235584 creator A5063226925 @default.
• W2103235584 creator A5065364190 @default.
• W2103235584 creator A5070105727 @default.
• W2103235584 creator A5080589561 @default.
• W2103235584 creator A5087107988 @default.
• W2103235584 creator A5090206042 @default.
• W2103235584 date "2001-04-01" @default.
• W2103235584 modified "2023-10-10" @default.
• W2103235584 title "The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred" @default.
• W2103235584 cites W1222651506 @default.
• W2103235584 cites W1516174258 @default.
• W2103235584 cites W1525568911 @default.
• W2103235584 cites W1963719821 @default.
• W2103235584 cites W1974071386 @default.
• W2103235584 cites W1982682847 @default.
• W2103235584 cites W1989282690 @default.
• W2103235584 cites W1989688835 @default.
• W2103235584 cites W1994082723 @default.
• W2103235584 cites W2011834911 @default.
• W2103235584 cites W2031555536 @default.
• W2103235584 cites W2032635139 @default.
• W2103235584 cites W2037473917 @default.
• W2103235584 cites W2039872256 @default.
• W2103235584 cites W2044761914 @default.
• W2103235584 cites W2077858999 @default.
• W2103235584 cites W2078695728 @default.
• W2103235584 cites W2084437341 @default.
• W2103235584 cites W2100738931 @default.
• W2103235584 cites W2101977030 @default.
• W2103235584 cites W2116702160 @default.
• W2103235584 cites W2127247808 @default.
• W2103235584 cites W2145930493 @default.
• W2103235584 cites W2157212789 @default.
• W2103235584 cites W2165633518 @default.
• W2103235584 cites W2165722602 @default.
• W2103235584 cites W2166854752 @default.
• W2103235584 doi "https://doi.org/10.1093/qjmed/94.4.213" @default.
• W2103235584 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11294964" @default.
• W2103235584 hasPublicationYear "2001" @default.
• W2103235584 type Work @default.
• W2103235584 sameAs 2103235584 @default.
• W2103235584 citedByCount "66" @default.
• W2103235584 countsByYear W21032355842012 @default.
• W2103235584 countsByYear W21032355842013 @default.
• W2103235584 countsByYear W21032355842014 @default.
• W2103235584 countsByYear W21032355842015 @default.
• W2103235584 countsByYear W21032355842016 @default.
• W2103235584 countsByYear W21032355842017 @default.
• W2103235584 countsByYear W21032355842019 @default.
• W2103235584 countsByYear W21032355842020 @default.
• W2103235584 countsByYear W21032355842021 @default.
• W2103235584 countsByYear W21032355842022 @default.
• W2103235584 countsByYear W21032355842023 @default.
• W2103235584 crossrefType "journal-article" @default.
• W2103235584 hasAuthorship W2103235584A5001103575 @default.
• W2103235584 hasAuthorship W2103235584A5005703946 @default.
• W2103235584 hasAuthorship W2103235584A5010000950 @default.
• W2103235584 hasAuthorship W2103235584A5011781010 @default.
• W2103235584 hasAuthorship W2103235584A5024166264 @default.
• W2103235584 hasAuthorship W2103235584A5063226925 @default.
• W2103235584 hasAuthorship W2103235584A5065364190 @default.
• W2103235584 hasAuthorship W2103235584A5070105727 @default.
• W2103235584 hasAuthorship W2103235584A5080589561 @default.
• W2103235584 hasAuthorship W2103235584A5087107988 @default.
• W2103235584 hasAuthorship W2103235584A5090206042 @default.
• W2103235584 hasBestOaLocation W21032355841 @default.
• W2103235584 hasConcept C104317684 @default.
• W2103235584 hasConcept C134018914 @default.
• W2103235584 hasConcept C142724271 @default.
• W2103235584 hasConcept C143589142 @default.
• W2103235584 hasConcept C180754005 @default.
• W2103235584 hasConcept C2775945674 @default.
• W2103235584 hasConcept C2777919317 @default.
• W2103235584 hasConcept C2779053571 @default.
• W2103235584 hasConcept C54355233 @default.
• W2103235584 hasConcept C71924100 @default.
• W2103235584 hasConcept C86803240 @default.
• W2103235584 hasConceptScore W2103235584C104317684 @default.
• W2103235584 hasConceptScore W2103235584C134018914 @default.
• W2103235584 hasConceptScore W2103235584C142724271 @default.
• W2103235584 hasConceptScore W2103235584C143589142 @default.
• W2103235584 hasConceptScore W2103235584C180754005 @default.
• W2103235584 hasConceptScore W2103235584C2775945674 @default.
• W2103235584 hasConceptScore W2103235584C2777919317 @default.
• W2103235584 hasConceptScore W2103235584C2779053571 @default.
• W2103235584 hasConceptScore W2103235584C54355233 @default.
• W2103235584 hasConceptScore W2103235584C71924100 @default.
• W2103235584 hasConceptScore W2103235584C86803240 @default.
• W2103235584 hasIssue "4" @default.
• W2103235584 hasLocation W21032355841 @default.
• W2103235584 hasLocation W21032355842 @default.

• next