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Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Domingo-Gallego A, Pybus M, Bullich G, Furlano M, Ejarque-Vila L, Lorente-Grandoso L, Ruiz P, Fraga G, López González M, Piñero-Fernández JA, Rodríguez-Peña L, Llano-Rivas I, Sáez R, Bujons-Tur A, Ariceta G, Guirado L, Torra R, Ars E. Domingo-Gallego A, et al. Among authors: pinero fernandez ja. Nephrol Dial Transplant. 2022 Mar 25;37(4):687-696. doi: 10.1093/ndt/gfab019. Nephrol Dial Transplant. 2022. PMID: 33532864
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Bullich G, Domingo-Gallego A, Vargas I, Ruiz P, Lorente-Grandoso L, Furlano M, Fraga G, Madrid Á, Ariceta G, Borregán M, Piñero-Fernández JA, Rodríguez-Peña L, Ballesta-Martínez MJ, Llano-Rivas I, Meñica MA, Ballarín J, Torrents D, Torra R, Ars E. Bullich G, et al. Among authors: pinero fernandez ja. Kidney Int. 2018 Aug;94(2):363-371. doi: 10.1016/j.kint.2018.02.027. Epub 2018 May 22. Kidney Int. 2018. PMID: 29801666 Free article.
Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.
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, Cornec-Le Gall E, Guirado L, Torra R, Ariceta G, Ars E. Domingo-Gallego A, et al. Among authors: pinero fernandez ja. Nephrol Dial Transplant. 2022 Sep 22;37(10):1906-1915. doi: 10.1093/ndt/gfab285. Nephrol Dial Transplant. 2022. PMID: 34610128
Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
Bullich G, Vargas I, Trujillano D, Mendizábal S, Piñero-Fernández JA, Fraga G, García-Solano J, Ballarín J, Estivill X, Torra R, Ars E. Bullich G, et al. Among authors: pinero fernandez ja. Nephrol Dial Transplant. 2017 Jan 1;32(1):151-156. doi: 10.1093/ndt/gfv453. Nephrol Dial Transplant. 2017. PMID: 26940125