2 documents found, page 1 of 1
Genotype-Phenotype Correlations and Clinical Outcomes of Genetic TRPC6 Podocyto...
McAnallen, Susan M; Elhassan, Elhussein A E; Stoneman, Sinead; Pinto E Vairo, Filippo; Hogan, Marie C; Hoefele, Julia; Clince, Michelle© The Author(s) 2025. Published by Oxford University Press on behalf of the ERA.; BACKGROUND AND HYPOTHESIS: Podocytopathy associated with likely pathogenic/pathogenic variants of TRPC6 (TRPC6-AP) has been recognised for about 20 years. As a result of its rarity however, the spectrum of clinical phenotypes and genotype-phenotype correlation of TRPC6-AP remains poorly understood. Here, we characterised clinical,...
Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohor...
Barata, Rui; Fila, Marc; Dalla-Vale, Fabienne; Bogarin, Roberto; Nunes, Paula; Ramalho, José; Rueff, Jose; Calado, JoaquimFunding Information: This work was supported by grant UID/BIM/00009/2016, Portuguese Science and Technology Foundation. Publisher Copyright: © 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.; Familial Renal Glucosuria (FRG) is a co-dominantly inherited trait characterized by orthoglycaemic glucosuria. From 2003 to 2015 we have reported several cohorts validating SLC5A2 (16p11.2), encoding SGLT2 ...