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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: torra r. 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.
Mutational analysis within the 3' region of the PKD1 gene.
Badenas C, Torra R, San Millán JL, Lucero L, Milà M, Estivill X, Darnell A. Badenas C, et al. Among authors: torra r. Kidney Int. 1999 Apr;55(4):1225-33. doi: 10.1046/j.1523-1755.1999.00368.x. Kidney Int. 1999. PMID: 10200984 Free article.
Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
Badenas C, Praga M, Tazón B, Heidet L, Arrondel C, Armengol A, Andrés A, Morales E, Camacho JA, Lens X, Dávila S, Milà M, Antignac C, Darnell A, Torra R. Badenas C, et al. Among authors: torra r. J Am Soc Nephrol. 2002 May;13(5):1248-1254. doi: 10.1681/ASN.V1351248. J Am Soc Nephrol. 2002. PMID: 11961012
[Molecular diagnosis of hereditary renal diseases].
Ars E, Torra R, Oliver A. Ars E, et al. Among authors: torra r. Nefrologia. 2003;23 Suppl 1:2-10. Nefrologia. 2003. PMID: 12708357 Free article. Review. Spanish. No abstract available.
[The Alport syndrome].
Tazón B, Ars E, Torra R. Tazón B, et al. Among authors: torra r. Nefrologia. 2003;23 Suppl 1:29-39. Nefrologia. 2003. PMID: 12708361 Review. Spanish. No abstract available.
[The Fabry's disease].
Torra R, Ballarín J. Torra R, et al. Nefrologia. 2003;23 Suppl 1:84-9. Nefrologia. 2003. PMID: 12708367 Free article. Review. Spanish. No abstract available.
225 results