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Page 1
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: fraga g. Nephrol Dial Transplant. 2022 Mar 25;37(4):687-696. doi: 10.1093/ndt/gfab019. Nephrol Dial Transplant. 2022. PMID: 33532864
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.
Santín S, Ars E, Rossetti S, Salido E, Silva I, García-Maset R, Giménez I, Ruíz P, Mendizábal S, Luciano Nieto J, Peña A, Camacho JA, Fraga G, Cobo MA, Bernis C, Ortiz A, de Pablos AL, Sánchez-Moreno A, Pintos G, Mirapeix E, Fernández-Llama P, Ballarín J, Torra R; FSGS Study Group; Zamora I, López-Hellin J, Madrid A, Ventura C, Vilalta R, Espinosa L, García C, Melgosa M, Navarro M, Giménez A, Cots JV, Alexandra S, Caramelo C, Egido J, San José MD, de la Cerda F, Sala P, Raspall F, Vila A, Daza AM, Vázquez M, Ecija JL, Espinosa M, Justa ML, Poveda R, Aparicio C, Rosell J, Muley R, Montenegro J, González D, Hidalgo E, de Frutos DB, Trillo E, Gracia S, de los Ríos FJ. Santín S, et al. Among authors: fraga g. Nephrol Dial Transplant. 2009 Oct;24(10):3089-96. doi: 10.1093/ndt/gfp229. Epub 2009 May 20. Nephrol Dial Transplant. 2009. PMID: 19458060
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Santín S, García-Maset R, Ruíz P, Giménez I, Zamora I, Peña A, Madrid A, Camacho JA, Fraga G, Sánchez-Moreno A, Cobo MA, Bernis C, Ortiz A, de Pablos AL, Pintos G, Justa ML, Hidalgo-Barquero E, Fernández-Llama P, Ballarín J, Ars E, Torra R; FSGS Spanish Study Group. Santín S, et al. Among authors: fraga g. Kidney Int. 2009 Dec;76(12):1268-76. doi: 10.1038/ki.2009.381. Epub 2009 Oct 7. Kidney Int. 2009. PMID: 19812541 Free article.
Spanish guidelines for the management of autosomal dominant polycystic kidney disease.
Ars E, Bernis C, Fraga G, Martínez V, Martins J, Ortiz A, Rodríguez-Pérez JC, Sans L, Torra R; Spanish Working Group on Inherited Kidney Disease. Ars E, et al. Among authors: fraga g. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv95-105. doi: 10.1093/ndt/gfu186. Nephrol Dial Transplant. 2014. PMID: 25165191
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
Bullich G, Trujillano D, Santín S, Ossowski S, Mendizábal S, Fraga G, Madrid Á, Ariceta G, Ballarín J, Torra R, Estivill X, Ars E. Bullich G, et al. Among authors: fraga g. Eur J Hum Genet. 2015 Sep;23(9):1192-9. doi: 10.1038/ejhg.2014.252. Epub 2014 Nov 19. Eur J Hum Genet. 2015. PMID: 25407002 Free PMC article.
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: fraga g. Nephrol Dial Transplant. 2017 Jan 1;32(1):151-156. doi: 10.1093/ndt/gfv453. Nephrol Dial Transplant. 2017. PMID: 26940125
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: fraga g. 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.
Longitudinal change in proteinuria and kidney outcomes in C3 glomerulopathy.
Caravaca-Fontán F, Díaz-Encarnación M, Cabello V, Ariceta G, Quintana LF, Marco H, Barros X, Ramos N, Rodríguez-Mendiola N, Cruz S, Fernández-Juárez G, Rodríguez A, Pérez de José A, Rabasco C, Rodado R, Fernández L, Pérez Gómez V, Ávila A, Bravo L, Espinosa N, Allende N, Sanchez de la Nieta MD, Rodríguez E, Olea T, Melgosa M, Huerta A, Miquel R, Mon C, Fraga G, de Lorenzo A, Draibe J, Cano-Megías M, González F, Shabaka A, López-Rubio ME, Fenollosa MÁ, Martín-Penagos L, Da Silva I, Alonso Titos J, Rodríguez de Córdoba S, Goicoechea de Jorge E, Praga M. Caravaca-Fontán F, et al. Among authors: fraga g. Nephrol Dial Transplant. 2022 Jun 23;37(7):1270-1280. doi: 10.1093/ndt/gfab075. Nephrol Dial Transplant. 2022. PMID: 33779754
364 results