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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: pinero fernandez ja. Nephrol Dial Transplant. 2022 Mar 25;37(4):687-696. doi: 10.1093/ndt/gfab019. Nephrol Dial Transplant. 2022. PMID: 33532864
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
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
Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.
San Román-Monserrat I, Moreno-Flores V, López-Cuenca D, Rodríguez-González-Herrero E, Guillén-Navarro E, Rodríguez-González-Herrero B, Alegría-Fernández M, Poza-Cisneros G, Piñero-Fernández JA, Sornichero-Martínez J, Gimeno-Blanes JR. San Román-Monserrat I, et al. Among authors: pinero fernandez ja. Med Clin (Barc). 2014 Jun 6;142(11):497-504. doi: 10.1016/j.medcli.2014.01.032. Epub 2014 Mar 26. Med Clin (Barc). 2014. PMID: 24679964
[Schinzel-Giedion syndrome: a new mutation in SETBP1].
López-González V, Domingo-Jiménez MR, Burglen L, Ballesta-Martínez MJ, Whalen S, Piñero-Fernández JA, Guillén-Navarro E. López-González V, et al. Among authors: pinero fernandez ja. An Pediatr (Barc). 2015 Jan;82(1):e12-6. doi: 10.1016/j.anpedi.2014.06.017. Epub 2014 Jul 28. An Pediatr (Barc). 2015. PMID: 25082129 Free article. Spanish.
[Vesicovaginal Reflux and Urocolpos].
Fernández-Ibieta M, Martínez-Castaño I, Guirao-Piñera MJ, Vicente-Calderón C, Piñero-Fernández J, Zambudio-Carmona G, García-López A, Ruiz-Jiménez JI. Fernández-Ibieta M, et al. Arch Esp Urol. 2015 Jun;68(5):502-5. Arch Esp Urol. 2015. PMID: 26102054 Spanish.
11 results