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Page 1
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
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.
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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
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Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening.
Piñero-Fernández JA, Vicente-Calderón C, Lorente-Sánchez MJ, Juan-Fita MJ, Egea-Mellado JM, González-Gallego IC.
Piñero-Fernández JA, et al.
Pediatr Nephrol. 2023 May;38(5):1513-1521. doi: 10.1007/s00467-022-05732-w. Epub 2022 Oct 13.
Pediatr Nephrol. 2023.
PMID: 36227436
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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
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Evidence of ongoing complement activation on adipose tissue from an 11-year-old girl with Barraquer-Simons syndrome.
Corvillo F, Nozal P, López-Lera A, De Miguel MP, Piñero-Fernández JA, De Lucas R, García-Concepción MD, Beato MJ, Araújo-Vilar D, López-Trascasa M.
Corvillo F, et al. Among authors: pinero fernandez ja.
J Dermatol. 2020 Dec;47(12):1439-1444. doi: 10.1111/1346-8138.15570. Epub 2020 Sep 5.
J Dermatol. 2020.
PMID: 32890433
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