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Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Domingo-Gallego A, Pybus M, Madariaga L, Piñero-Fernández JA, González-Pastor S, López-González M, Simarro-Rueda E, Quintanilla-Mata ML, Matoses-Ruipérez ML, Ejarque-Vila L, Gall EC, Guirado L, Torra R, Ariceta G, Ars E.
PMID: 34610128
Nephrol Dial Transplant. 2021 Oct 05; doi: 10.1093/ndt/gfab285. Epub 2021 Oct 05.

BACKGROUND: Proteinuria is a well-known risk factor for progressive kidney impairment. Recently, C-terminal cubilin (CUBN) variants have been associated with isolated proteinuria without progression of kidney disease.METHODS: Genetic testing of 347 families with proteinuria of suspected monogenic cause was...

Showing 145 to 145 of 145 entries