Bullich G - Search Results

1

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.

Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R. Furlano M, et al. Among authors: bullich g. Am J Kidney Dis. 2021 Oct;78(4):560-570.e1. doi: 10.1053/j.ajkd.2021.02.326. Epub 2021 Apr 7. Am J Kidney Dis. 2021. PMID: 33838161 Free article.

2

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.

Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I, Ruíz P, Ballarín J, Torra R, Ars E. Santín S, et al. Among authors: bullich g. Clin J Am Soc Nephrol. 2011 May;6(5):1139-48. doi: 10.2215/CJN.05260610. Epub 2011 Mar 17. Clin J Am Soc Nephrol. 2011. PMID: 21415313 Free PMC article.

3

HLA-DQA1 and PLA2R1 polymorphisms and risk of idiopathic membranous nephropathy.

Bullich G, Ballarín J, Oliver A, Ayasreh N, Silva I, Santín S, Díaz-Encarnación MM, Torra R, Ars E. Bullich G, et al. Clin J Am Soc Nephrol. 2014 Feb;9(2):335-43. doi: 10.2215/CJN.05310513. Epub 2013 Nov 21. Clin J Am Soc Nephrol. 2014. PMID: 24262501 Free PMC article.

4

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Trujillano D, Bullich G, Ossowski S, Ballarín J, Torra R, Estivill X, Ars E. Trujillano D, et al. Among authors: bullich g. Mol Genet Genomic Med. 2014 Sep;2(5):412-21. doi: 10.1002/mgg3.82. Epub 2014 May 23. Mol Genet Genomic Med. 2014. PMID: 25333066 Free PMC article.

5

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. 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.

6

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.

7

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

8

Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).

Kuebler B, Aran B, Miquel-Serra L, Muñoz Y, Ars E, Bullich G, Furlano M, Torra R, Marti M, Veiga A, Raya A. Kuebler B, et al. Among authors: bullich g. Stem Cell Res. 2017 Dec;25:291-295. doi: 10.1016/j.scr.2017.08.019. Epub 2017 Sep 9. Stem Cell Res. 2017. PMID: 29150092 Free article.

9

Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS).

Kuebler B, Aran B, Miquel-Serra L, Muñoz Y, Ars E, Bullich G, Furlano M, Torra R, Marti M, Veiga A, Raya A. Kuebler B, et al. Among authors: bullich g. Stem Cell Res. 2017 Dec;25:1-5. doi: 10.1016/j.scr.2017.08.021. Epub 2017 Sep 14. Stem Cell Res. 2017. PMID: 29246570 Free article.

10

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

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