FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4293492830> ?p ?o ?g. }

• W4293492830 endingPage "468" @default.
• W4293492830 startingPage "464" @default.
• W4293492830 abstract "Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterised by recurrent epistaxis, telangiectatic lesions in the skin and mucosal membranes, and arteriovenous malformations (AVMs) in various organs. In 3%-5% of patients, HHT is caused by pathogenic germline variants (PVs) in SMAD4, and these patients often have additional symptoms of juvenile polyposis syndrome and thoracic aneurysms. The phenotypic spectrum of SMAD4-associated HHT is less known, including the penetrance and severity of HHT. We aimed to investigate the phenotypic spectrum of HHT manifestations in Danish patients with PVs in SMAD4 and compare the findings with current literature.The study is a retrospective nationwide study with all known Danish patients with PVs in SMAD4. In total, 35 patients were included. The patients were identified by collecting data from genetic laboratories, various databases and clinical genetic departments across the country. Clinical information was mainly collected from the Danish HHT-Centre at Odense University Hospital.Twenty-nine patients with PVs in SMAD4 (83%) were seen at the HHT-Centre. Seventy-six per cent of these fulfilled the Curaçao criteria, 86% experienced recurrent epistaxis and 83% presented with telangiectatic lesions at different anatomical localisations. Almost 60% had AVMs, mainly pulmonary and hepatic, while none was found to have cerebral AVMs. Fifteen per cent had thoracic aortic abnormalities.We present a nationwide study of one of the largest populations of patients with PVs in SMAD4 that has systematically been examined for HHT manifestations. The patients presented the full spectrum of HHT-related manifestations and the majority fulfilled the Curaçao criteria." @default.
• W4293492830 created "2022-08-29" @default.
• W4293492830 creator A5016440155 @default.
• W4293492830 creator A5022386228 @default.
• W4293492830 creator A5052581865 @default.
• W4293492830 creator A5058208550 @default.
• W4293492830 creator A5060941366 @default.
• W4293492830 creator A5069406670 @default.
• W4293492830 creator A5090950342 @default.
• W4293492830 date "2022-08-29" @default.
• W4293492830 modified "2023-09-27" @default.
• W4293492830 title "Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in<i>SMAD4:</i>a nationwide study" @default.
• W4293492830 cites W1992224115 @default.
• W4293492830 cites W2013160042 @default.
• W4293492830 cites W2025549104 @default.
• W4293492830 cites W2040372823 @default.
• W4293492830 cites W2045030859 @default.
• W4293492830 cites W2051978340 @default.
• W4293492830 cites W2055584051 @default.
• W4293492830 cites W2067658227 @default.
• W4293492830 cites W2070755192 @default.
• W4293492830 cites W2080299984 @default.
• W4293492830 cites W2086425449 @default.
• W4293492830 cites W2101813197 @default.
• W4293492830 cites W2102275580 @default.
• W4293492830 cites W2106775658 @default.
• W4293492830 cites W2131246162 @default.
• W4293492830 cites W2155586220 @default.
• W4293492830 cites W2245379197 @default.
• W4293492830 cites W2739270352 @default.
• W4293492830 cites W2755685980 @default.
• W4293492830 cites W3016418938 @default.
• W4293492830 cites W3023837702 @default.
• W4293492830 cites W3036509018 @default.
• W4293492830 cites W3039068484 @default.
• W4293492830 cites W3095632384 @default.
• W4293492830 cites W3201991807 @default.
• W4293492830 cites W3203032199 @default.
• W4293492830 cites W4200165304 @default.
• W4293492830 cites W4200506478 @default.
• W4293492830 doi "https://doi.org/10.1136/jmg-2022-108766" @default.
• W4293492830 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36038259" @default.
• W4293492830 hasPublicationYear "2022" @default.
• W4293492830 type Work @default.
• W4293492830 citedByCount "3" @default.
• W4293492830 countsByYear W42934928302023 @default.
• W4293492830 crossrefType "journal-article" @default.
• W4293492830 hasAuthorship W4293492830A5016440155 @default.
• W4293492830 hasAuthorship W4293492830A5022386228 @default.
• W4293492830 hasAuthorship W4293492830A5052581865 @default.
• W4293492830 hasAuthorship W4293492830A5058208550 @default.
• W4293492830 hasAuthorship W4293492830A5060941366 @default.
• W4293492830 hasAuthorship W4293492830A5069406670 @default.
• W4293492830 hasAuthorship W4293492830A5090950342 @default.
• W4293492830 hasConcept C104317684 @default.
• W4293492830 hasConcept C126322002 @default.
• W4293492830 hasConcept C127716648 @default.
• W4293492830 hasConcept C138885662 @default.
• W4293492830 hasConcept C16005928 @default.
• W4293492830 hasConcept C164622146 @default.
• W4293492830 hasConcept C167135981 @default.
• W4293492830 hasConcept C185592680 @default.
• W4293492830 hasConcept C187212893 @default.
• W4293492830 hasConcept C200544954 @default.
• W4293492830 hasConcept C21951064 @default.
• W4293492830 hasConcept C2776330896 @default.
• W4293492830 hasConcept C2908964109 @default.
• W4293492830 hasConcept C3020442560 @default.
• W4293492830 hasConcept C41895202 @default.
• W4293492830 hasConcept C55493867 @default.
• W4293492830 hasConcept C71924100 @default.
• W4293492830 hasConceptScore W4293492830C104317684 @default.
• W4293492830 hasConceptScore W4293492830C126322002 @default.
• W4293492830 hasConceptScore W4293492830C127716648 @default.
• W4293492830 hasConceptScore W4293492830C138885662 @default.
• W4293492830 hasConceptScore W4293492830C16005928 @default.
• W4293492830 hasConceptScore W4293492830C164622146 @default.
• W4293492830 hasConceptScore W4293492830C167135981 @default.
• W4293492830 hasConceptScore W4293492830C185592680 @default.
• W4293492830 hasConceptScore W4293492830C187212893 @default.
• W4293492830 hasConceptScore W4293492830C200544954 @default.
• W4293492830 hasConceptScore W4293492830C21951064 @default.
• W4293492830 hasConceptScore W4293492830C2776330896 @default.
• W4293492830 hasConceptScore W4293492830C2908964109 @default.
• W4293492830 hasConceptScore W4293492830C3020442560 @default.
• W4293492830 hasConceptScore W4293492830C41895202 @default.
• W4293492830 hasConceptScore W4293492830C55493867 @default.
• W4293492830 hasConceptScore W4293492830C71924100 @default.
• W4293492830 hasIssue "5" @default.
• W4293492830 hasLocation W42934928301 @default.
• W4293492830 hasLocation W42934928302 @default.
• W4293492830 hasOpenAccess W4293492830 @default.
• W4293492830 hasPrimaryLocation W42934928301 @default.
• W4293492830 hasRelatedWork W1916825198 @default.
• W4293492830 hasRelatedWork W2044038262 @default.
• W4293492830 hasRelatedWork W2081099131 @default.
• W4293492830 hasRelatedWork W2403285906 @default.
• W4293492830 hasRelatedWork W2508644031 @default.

• next