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Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.
Cabrera-López C, Bullich G, Martí T, Català V, Ballarín J, Bissler JJ, Harris PC, Ars E, Torra R. Cabrera-López C, et al. Among authors: bullich g. BMC Med Genet. 2015 Jun 17;16:39. doi: 10.1186/s12881-015-0185-y. BMC Med Genet. 2015. PMID: 26077033 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. 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. 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.
MYH9 Associated nephropathy.
Furlano M, Arlandis R, Venegas MDP, Novelli S, Crespi J, Bullich G, Ayasreh N, Remacha Á, Ruiz P, Lorente L, Ballarín J, Matamala A, Ars E, Torra R. Furlano M, et al. Among authors: bullich g. Nefrologia (Engl Ed). 2019 Mar-Apr;39(2):133-140. doi: 10.1016/j.nefro.2018.08.008. Epub 2018 Nov 22. Nefrologia (Engl Ed). 2019. PMID: 30471777 Free article. Review. English, Spanish.
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.
Ayasreh N, Bullich G, Miquel R, Furlano M, Ruiz P, Lorente L, Valero O, García-González MA, Arhda N, Garin I, Martínez V, Pérez-Gómez V, Fulladosa X, Arroyo D, Martínez-Vea A, Espinosa M, Ballarín J, Ars E, Torra R. Ayasreh N, et al. Among authors: bullich g. Am J Kidney Dis. 2018 Sep;72(3):411-418. doi: 10.1053/j.ajkd.2018.03.019. Epub 2018 May 18. Am J Kidney Dis. 2018. PMID: 29784615
30 results