Matches in SemOpenAlex for { <https://semopenalex.org/work/W4366463231> ?p ?o ?g. }
Showing items 1 to 79 of
79
with 100 items per page.
- W4366463231 abstract "Clinical diagnosis of hereditary kidney disease can be difficult because of its rarity and severe phenotypic variability. Identifying mutated causative genes can provide diagnostic and prognostic information. In this study, we report the clinical application and outcome of a next-generation sequencing-based, targeted multi-gene panel test for the genetic diagnosis of patients with hereditary kidney disease.A total of 145 patients evaluated for hereditary kidney disease who underwent a nephropathy panel with 44 different genes were retrospectively reviewed and included in the study.Genetic diagnosis of other hereditary kidney diseases, particularly autosomal dominant polycystic kidney disease, was made in 48% of patients. The nephropathy panel changed the preliminary diagnosis in 6% of patients. The variants in 18 (12%) patients had not been previously reported in the literature.This study demonstrates the utility of the nephropathy panel in identifying patients diagnosed with hereditary kidney disease who are referred for genetic testing. A contribution was made to the variant spectrum of genes associated with hereditary kidney disease." @default.
- W4366463231 created "2023-04-22" @default.
- W4366463231 creator A5086413681 @default.
- W4366463231 date "2023-04-20" @default.
- W4366463231 modified "2023-09-25" @default.
- W4366463231 title "Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease" @default.
- W4366463231 cites W1996275029 @default.
- W4366463231 cites W2043992490 @default.
- W4366463231 cites W2051978340 @default.
- W4366463231 cites W2058691614 @default.
- W4366463231 cites W2158116492 @default.
- W4366463231 cites W2288551216 @default.
- W4366463231 cites W2748371656 @default.
- W4366463231 cites W2786385926 @default.
- W4366463231 cites W2803799714 @default.
- W4366463231 cites W2901480961 @default.
- W4366463231 cites W2909726367 @default.
- W4366463231 cites W2921498052 @default.
- W4366463231 cites W2944098042 @default.
- W4366463231 cites W3002103916 @default.
- W4366463231 cites W3021986985 @default.
- W4366463231 cites W3029661147 @default.
- W4366463231 cites W3101500187 @default.
- W4366463231 doi "https://doi.org/10.1093/labmed/lmad027" @default.
- W4366463231 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37078890" @default.
- W4366463231 hasPublicationYear "2023" @default.
- W4366463231 type Work @default.
- W4366463231 citedByCount "0" @default.
- W4366463231 crossrefType "journal-article" @default.
- W4366463231 hasAuthorship W4366463231A5086413681 @default.
- W4366463231 hasConcept C104317684 @default.
- W4366463231 hasConcept C126322002 @default.
- W4366463231 hasConcept C134018914 @default.
- W4366463231 hasConcept C142724271 @default.
- W4366463231 hasConcept C2776266639 @default.
- W4366463231 hasConcept C2778653478 @default.
- W4366463231 hasConcept C2779134260 @default.
- W4366463231 hasConcept C2780091579 @default.
- W4366463231 hasConcept C2780145431 @default.
- W4366463231 hasConcept C2780673598 @default.
- W4366463231 hasConcept C2781184683 @default.
- W4366463231 hasConcept C2993153387 @default.
- W4366463231 hasConcept C54355233 @default.
- W4366463231 hasConcept C555293320 @default.
- W4366463231 hasConcept C71924100 @default.
- W4366463231 hasConcept C86803240 @default.
- W4366463231 hasConceptScore W4366463231C104317684 @default.
- W4366463231 hasConceptScore W4366463231C126322002 @default.
- W4366463231 hasConceptScore W4366463231C134018914 @default.
- W4366463231 hasConceptScore W4366463231C142724271 @default.
- W4366463231 hasConceptScore W4366463231C2776266639 @default.
- W4366463231 hasConceptScore W4366463231C2778653478 @default.
- W4366463231 hasConceptScore W4366463231C2779134260 @default.
- W4366463231 hasConceptScore W4366463231C2780091579 @default.
- W4366463231 hasConceptScore W4366463231C2780145431 @default.
- W4366463231 hasConceptScore W4366463231C2780673598 @default.
- W4366463231 hasConceptScore W4366463231C2781184683 @default.
- W4366463231 hasConceptScore W4366463231C2993153387 @default.
- W4366463231 hasConceptScore W4366463231C54355233 @default.
- W4366463231 hasConceptScore W4366463231C555293320 @default.
- W4366463231 hasConceptScore W4366463231C71924100 @default.
- W4366463231 hasConceptScore W4366463231C86803240 @default.
- W4366463231 hasLocation W43664632311 @default.
- W4366463231 hasLocation W43664632312 @default.
- W4366463231 hasOpenAccess W4366463231 @default.
- W4366463231 hasPrimaryLocation W43664632311 @default.
- W4366463231 hasRelatedWork W1932276363 @default.
- W4366463231 hasRelatedWork W2033437786 @default.
- W4366463231 hasRelatedWork W2159490630 @default.
- W4366463231 hasRelatedWork W2285859432 @default.
- W4366463231 hasRelatedWork W2767717045 @default.
- W4366463231 hasRelatedWork W2964973523 @default.
- W4366463231 hasRelatedWork W3081466801 @default.
- W4366463231 hasRelatedWork W4247948490 @default.
- W4366463231 hasRelatedWork W4297369249 @default.
- W4366463231 hasRelatedWork W4366463231 @default.
- W4366463231 isParatext "false" @default.
- W4366463231 isRetracted "false" @default.
- W4366463231 workType "article" @default.