Matches in SemOpenAlex for { <https://semopenalex.org/work/W2984166280> ?p ?o ?g. }
Showing items 1 to 87 of
87
with 100 items per page.
- W2984166280 abstract "Introduction: Denys-Drash Syndrome (DDS) consists of a triad of pseudohermaphroditism, Wilms'tumor and nephropathy. This condition may manifest as a complete triad or in an incomplete form; with either one or a combination of the above features. The characteristic glomerular abnormality in DDS is diffuse mesangial sclerosis (DMS).Case report: We report two cases of DDS with focal membranoproliferative glomerulonephritis (MPGN). Both of our cases were males with ambiguous genitalia. They had a similar heterozygous germline mutation in exon 9 of WT1, c.1180C>T, p.R394W; a known mutation hotspot for DDS. Case 1 had nephropathy at the age of 4 years and Case 2 at 2.5 years with different rates of progression to end-stage renal failure. Conclusion: Our findings, in combination with other reports, illustrate the clinicopathological heterogeneity of DDS. There are no universal recommendations for optimal management of patients with DDS due to the inability to accurately predict affected individuals' progress." @default.
- W2984166280 created "2019-11-22" @default.
- W2984166280 creator A5011665068 @default.
- W2984166280 creator A5012528149 @default.
- W2984166280 creator A5044926564 @default.
- W2984166280 creator A5081116027 @default.
- W2984166280 creator A5082509111 @default.
- W2984166280 creator A5084609197 @default.
- W2984166280 creator A5089194179 @default.
- W2984166280 date "2019-11-09" @default.
- W2984166280 modified "2023-09-27" @default.
- W2984166280 title "Focal Segmental Membranoproliferative Glomerulonephritis: A Histological Variant of Denys-Drash Syndrome." @default.
- W2984166280 cites W1982008188 @default.
- W2984166280 cites W1983643419 @default.
- W2984166280 cites W1987294439 @default.
- W2984166280 cites W2011841406 @default.
- W2984166280 cites W2025677014 @default.
- W2984166280 cites W2032224500 @default.
- W2984166280 cites W2054080402 @default.
- W2984166280 cites W2056704990 @default.
- W2984166280 cites W2078578416 @default.
- W2984166280 cites W2112875301 @default.
- W2984166280 cites W2113955364 @default.
- W2984166280 cites W2149938808 @default.
- W2984166280 cites W2160453337 @default.
- W2984166280 cites W2162558138 @default.
- W2984166280 cites W2736730093 @default.
- W2984166280 doi "https://doi.org/10.1080/15513815.2019.1686788" @default.
- W2984166280 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31707902" @default.
- W2984166280 hasPublicationYear "2019" @default.
- W2984166280 type Work @default.
- W2984166280 sameAs 2984166280 @default.
- W2984166280 citedByCount "1" @default.
- W2984166280 countsByYear W29841662802020 @default.
- W2984166280 crossrefType "journal-article" @default.
- W2984166280 hasAuthorship W2984166280A5011665068 @default.
- W2984166280 hasAuthorship W2984166280A5012528149 @default.
- W2984166280 hasAuthorship W2984166280A5044926564 @default.
- W2984166280 hasAuthorship W2984166280A5081116027 @default.
- W2984166280 hasAuthorship W2984166280A5082509111 @default.
- W2984166280 hasAuthorship W2984166280A5084609197 @default.
- W2984166280 hasAuthorship W2984166280A5089194179 @default.
- W2984166280 hasConcept C104317684 @default.
- W2984166280 hasConcept C109825262 @default.
- W2984166280 hasConcept C126322002 @default.
- W2984166280 hasConcept C134018914 @default.
- W2984166280 hasConcept C142724271 @default.
- W2984166280 hasConcept C2780091579 @default.
- W2984166280 hasConcept C2780368995 @default.
- W2984166280 hasConcept C2781036514 @default.
- W2984166280 hasConcept C2781184683 @default.
- W2984166280 hasConcept C54355233 @default.
- W2984166280 hasConcept C555293320 @default.
- W2984166280 hasConcept C71924100 @default.
- W2984166280 hasConcept C86803240 @default.
- W2984166280 hasConceptScore W2984166280C104317684 @default.
- W2984166280 hasConceptScore W2984166280C109825262 @default.
- W2984166280 hasConceptScore W2984166280C126322002 @default.
- W2984166280 hasConceptScore W2984166280C134018914 @default.
- W2984166280 hasConceptScore W2984166280C142724271 @default.
- W2984166280 hasConceptScore W2984166280C2780091579 @default.
- W2984166280 hasConceptScore W2984166280C2780368995 @default.
- W2984166280 hasConceptScore W2984166280C2781036514 @default.
- W2984166280 hasConceptScore W2984166280C2781184683 @default.
- W2984166280 hasConceptScore W2984166280C54355233 @default.
- W2984166280 hasConceptScore W2984166280C555293320 @default.
- W2984166280 hasConceptScore W2984166280C71924100 @default.
- W2984166280 hasConceptScore W2984166280C86803240 @default.
- W2984166280 hasFunder F4320322604 @default.
- W2984166280 hasLocation W29841662801 @default.
- W2984166280 hasLocation W29841662802 @default.
- W2984166280 hasOpenAccess W2984166280 @default.
- W2984166280 hasPrimaryLocation W29841662801 @default.
- W2984166280 hasRelatedWork W10344616 @default.
- W2984166280 hasRelatedWork W14125716 @default.
- W2984166280 hasRelatedWork W15264300 @default.
- W2984166280 hasRelatedWork W15326854 @default.
- W2984166280 hasRelatedWork W19699641 @default.
- W2984166280 hasRelatedWork W2112058 @default.
- W2984166280 hasRelatedWork W2842080 @default.
- W2984166280 hasRelatedWork W475827 @default.
- W2984166280 hasRelatedWork W5171838 @default.
- W2984166280 hasRelatedWork W7755818 @default.
- W2984166280 isParatext "false" @default.
- W2984166280 isRetracted "false" @default.
- W2984166280 magId "2984166280" @default.
- W2984166280 workType "article" @default.