FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2205243612> ?p ?o ?g. }

• W2205243612 endingPage "18" @default.
• W2205243612 startingPage "7" @default.
• W2205243612 abstract "Despite several reports on the genetic cause of dilated cardiomyopathy (DCM), most cases are believed to be sporadic and specific clinical findings are not well defined. Therefore, we initiated a registry of patients with idiopathic DCM to analyze the frequency and clinical characteristics of this inherited disorder. In a first evaluation, 445 consecutive patients with angiographically proven DCM were included. Pedigrees were constructed, and 970 first and second-degree family members were examined. Familial DCM was confirmed in 48 (10.8%) of the 445 index patients and was suspected in 108 (24.2%) patients. Among the families of the 48 index patients with confirmed familial disease, five phenotypes (A—E) of familial DCM could be identified in 19 independent families: (A) 2 families with juvenile DCM with subclinical muscular dystrophy and elevated CK-MM levels, (B) 5 families with juvenile DCM without an increase of CK-MM, (C) 5 families with DCM and segmental hypokinesia of the left ventricle, (D) 6 families with DCM and early conduction defects, and (E) only 1 DCM family with sensorineural hearing loss. Genetic analyses of a DCM family with phenotype A revealed an X-linked inheritance. DNA and protein analyses identified a mutated rod region of the dystrophin gene to be associated with this rapidly progressive disorder in young males. The present results indicate that DCM may be a genetic disorder in approximately 35% of all cases. The common phenotypes of DCM may facilitate screening for genetic defects and help in risk stratification. In particular, young men with suspected DCM (phenotype A and B) show a rapid progression of the disease and should, therefore, be closely evaluated for heart transplantation." @default.
• W2205243612 created "2016-06-24" @default.
• W2205243612 creator A5012866360 @default.
• W2205243612 creator A5049262839 @default.
• W2205243612 creator A5070548943 @default.
• W2205243612 creator A5073152482 @default.
• W2205243612 creator A5086013885 @default.
• W2205243612 date "2000-01-01" @default.
• W2205243612 modified "2023-09-24" @default.
• W2205243612 title "Registry of families with inherited dilated cardiomyopathy for molecular analyses" @default.
• W2205243612 cites W1489130191 @default.
• W2205243612 cites W1633634546 @default.
• W2205243612 cites W1718931754 @default.
• W2205243612 cites W1852784462 @default.
• W2205243612 cites W1974639843 @default.
• W2205243612 cites W1982330294 @default.
• W2205243612 cites W1982332647 @default.
• W2205243612 cites W1987078155 @default.
• W2205243612 cites W1992307061 @default.
• W2205243612 cites W2001696936 @default.
• W2205243612 cites W2014669590 @default.
• W2205243612 cites W2016811958 @default.
• W2205243612 cites W2017428806 @default.
• W2205243612 cites W2019166705 @default.
• W2205243612 cites W2022991040 @default.
• W2205243612 cites W2024335891 @default.
• W2205243612 cites W2036315448 @default.
• W2205243612 cites W2039885052 @default.
• W2205243612 cites W2041407230 @default.
• W2205243612 cites W2058267230 @default.
• W2205243612 cites W2062746471 @default.
• W2205243612 cites W2063677263 @default.
• W2205243612 cites W2065105251 @default.
• W2205243612 cites W2066729833 @default.
• W2205243612 cites W2070071827 @default.
• W2205243612 cites W2084507708 @default.
• W2205243612 cites W2089125087 @default.
• W2205243612 cites W2092670526 @default.
• W2205243612 cites W2092730584 @default.
• W2205243612 cites W2094763401 @default.
• W2205243612 cites W2154626777 @default.
• W2205243612 cites W2315633478 @default.
• W2205243612 cites W2576734941 @default.
• W2205243612 cites W4238376026 @default.
• W2205243612 cites W4253071948 @default.
• W2205243612 doi "https://doi.org/10.1007/978-3-642-57724-6_2" @default.
• W2205243612 hasPublicationYear "2000" @default.
• W2205243612 type Work @default.
• W2205243612 sameAs 2205243612 @default.
• W2205243612 citedByCount "0" @default.
• W2205243612 crossrefType "book-chapter" @default.
• W2205243612 hasAuthorship W2205243612A5012866360 @default.
• W2205243612 hasAuthorship W2205243612A5049262839 @default.
• W2205243612 hasAuthorship W2205243612A5070548943 @default.
• W2205243612 hasAuthorship W2205243612A5073152482 @default.
• W2205243612 hasAuthorship W2205243612A5086013885 @default.
• W2205243612 hasConcept C104317684 @default.
• W2205243612 hasConcept C126322002 @default.
• W2205243612 hasConcept C164705383 @default.
• W2205243612 hasConcept C187212893 @default.
• W2205243612 hasConcept C22593422 @default.
• W2205243612 hasConcept C2776383484 @default.
• W2205243612 hasConcept C2778198053 @default.
• W2205243612 hasConcept C2778921608 @default.
• W2205243612 hasConcept C2781179581 @default.
• W2205243612 hasConcept C54355233 @default.
• W2205243612 hasConcept C71924100 @default.
• W2205243612 hasConcept C86803240 @default.
• W2205243612 hasConceptScore W2205243612C104317684 @default.
• W2205243612 hasConceptScore W2205243612C126322002 @default.
• W2205243612 hasConceptScore W2205243612C164705383 @default.
• W2205243612 hasConceptScore W2205243612C187212893 @default.
• W2205243612 hasConceptScore W2205243612C22593422 @default.
• W2205243612 hasConceptScore W2205243612C2776383484 @default.
• W2205243612 hasConceptScore W2205243612C2778198053 @default.
• W2205243612 hasConceptScore W2205243612C2778921608 @default.
• W2205243612 hasConceptScore W2205243612C2781179581 @default.
• W2205243612 hasConceptScore W2205243612C54355233 @default.
• W2205243612 hasConceptScore W2205243612C71924100 @default.
• W2205243612 hasConceptScore W2205243612C86803240 @default.
• W2205243612 hasLocation W22052436121 @default.
• W2205243612 hasOpenAccess W2205243612 @default.
• W2205243612 hasPrimaryLocation W22052436121 @default.
• W2205243612 hasRelatedWork W1973589622 @default.
• W2205243612 hasRelatedWork W2034677506 @default.
• W2205243612 hasRelatedWork W2052786696 @default.
• W2205243612 hasRelatedWork W2059619521 @default.
• W2205243612 hasRelatedWork W2073477103 @default.
• W2205243612 hasRelatedWork W2340654203 @default.
• W2205243612 hasRelatedWork W2388618798 @default.
• W2205243612 hasRelatedWork W2413390633 @default.
• W2205243612 hasRelatedWork W2618457249 @default.
• W2205243612 hasRelatedWork W3211533342 @default.
• W2205243612 isParatext "false" @default.
• W2205243612 isRetracted "false" @default.
• W2205243612 magId "2205243612" @default.
• W2205243612 workType "book-chapter" @default.