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Items: 1 to 20 of 126

1.

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H.

Pediatr Nephrol. 2018 Jul 9. doi: 10.1007/s00467-018-3985-4. [Epub ahead of print] Review.

PMID:
29987460
2.

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.

Kidney Int. 2018 May 22. pii: S0085-2538(18)30241-2. doi: 10.1016/j.kint.2018.02.027. [Epub ahead of print]

PMID:
29801666
3.

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.

Am J Kidney Dis. 2018 May 18. pii: S0272-6386(18)30606-1. doi: 10.1053/j.ajkd.2018.03.019. [Epub ahead of print]

PMID:
29784615
4.

Fabry Nephropathy: An Evidence-Based Narrative Review.

Del Pino M, Andrés A, Bernabéu AÁ, de Juan-Rivera J, Fernández E, de Dios García Díaz J, Hernández D, Luño J, Fernández IM, Paniagua J, Posada de la Paz M, Rodríguez-Pérez JC, Santamaría R, Torra R, Ambros JT, Vidau P, Torregrosa JV.

Kidney Blood Press Res. 2018;43(2):406-421. doi: 10.1159/000488121. Epub 2018 Mar 16.

5.

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.

Stem Cell Res. 2017 Dec;25:1-5. doi: 10.1016/j.scr.2017.08.021. Epub 2017 Sep 14.

6.

Recommendations for imaging-based diagnosis and management of renal angiomyolipoma associated with tuberous sclerosis complex.

Buj Pradilla MJ, Martí Ballesté T, Torra R, Villacampa Aubá F.

Clin Kidney J. 2017 Dec;10(6):728-737. doi: 10.1093/ckj/sfx094. Epub 2017 Sep 11. Review.

7.

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.

Stem Cell Res. 2017 Dec;25:291-295. doi: 10.1016/j.scr.2017.08.019. Epub 2017 Sep 9.

8.

Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.

Ars E, Torra R.

Clin Kidney J. 2017 Oct;10(5):586-593. doi: 10.1093/ckj/sfx051. Epub 2017 Jul 19.

9.

Erratum to «Recommendations for the multidisciplinary management of tuberous sclerosis complex» [MedClin(Barc)147(5) (2016) 211-216].

Macaya A, Torra R; en representación del Grupo Español Multidisciplinar de Expertos en Complejo Esclerosis Tuberosa (GEM-CET).

Med Clin (Barc). 2017 Oct 11;149(7):322. doi: 10.1016/j.medcli.2017.08.007. English, Spanish. No abstract available.

PMID:
28918796
10.

Cystatin C estimated glomerular filtration rate to assess renal function in early stages of autosomal dominant polycystic kidney disease.

Sans L, Radosevic A, Quintian C, Montañés R, Gràcia S, Vilaplana C, Mojal S, Ballarin JA, Fernández-Llama P, Torra R, Pascual J.

PLoS One. 2017 Mar 27;12(3):e0174583. doi: 10.1371/journal.pone.0174583. eCollection 2017.

11.

Renal volume and cardiovascular risk assessment in normotensive autosomal dominant polycystic kidney disease patients.

Sans L, Pascual J, Radosevic A, Quintian C, Ble M, Molina L, Mojal S, Ballarin JA, Torra R, Fernández-Llama P.

Medicine (Baltimore). 2016 Dec;95(49):e5595.

12.

Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial.

Robles NR, Peces R, Gómez-Ferrer Á, Villacampa F, Álvarez-Ossorio JL, Pérez-Segura P, Morote J, Herrera-Imbroda B, Nieto J, Carballido J, Anido U, Valero M, Meseguer C, Torra R.

Orphanet J Rare Dis. 2016 Sep 26;11(1):128.

13.

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M.

PLoS One. 2016 Sep 14;11(9):e0161802. doi: 10.1371/journal.pone.0161802. eCollection 2016.

14.

International Multi-Specialty Delphi Survey: Identification of Diagnostic Criteria for Hepatic and Renal Cyst Infection.

Lantinga MA, Darding AJ, de Sévaux RG, Alam A, Bleeker-Rovers CP, Bobot M, Cornec-Le Gall E, Gevers TJ, Hassoun Z, Meijer E, Mrug M, Nevens F, Onuchic LF, Pei Y, Piccoli GB, Pirson Y, Rangan GK, Torra R, Visser FW, Jouret F, Kanaan N, Oyen WJ, Suwabe T, Torres VE, Drenth JP; Delphi collaborators.

Nephron. 2016;134(4):205-214. Epub 2016 Sep 3.

PMID:
27599120
15.

A coordinated transition model for patients with cystinosis: from pediatrics to adult care.

Ariceta G, Camacho JA, Fernández-Obispo M, Fernández-Polo A, Gámez J, García-Villoria J, Lara E, Leyes P, Martín-Begué N, Perelló M, Pintos-Morell G, Torra R, Torregrosa JV, Torres-Sierra S, Vila-Santandreu A, Güell A; Grupo T-CiS.bcn.

Nefrologia. 2016 Nov - Dec;36(6):616-630. doi: 10.1016/j.nefro.2016.05.012. Epub 2016 Aug 30. English, Spanish.

16.

Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.

Furlano M, Barreiro Y, Martí T, Facundo C, Ruiz-García C, DaSilva I, Ayasreh N, Cabrera-López C, Ballarín J, Ars E, Torra R.

Nefrologia. 2017 Jan - Feb;37(1):87-92. doi: 10.1016/j.nefro.2016.04.007. Epub 2016 Aug 29. English, Spanish.

17.

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R.

N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.

18.

[Recommendations for the multidisciplinary management of tuberous sclerosis complex].

Macaya A, Torra R; en representación del Grupo Español Multidisciplinar de Expertos en Complejo Esclerosis Tuberosa (GEM-CET).

Med Clin (Barc). 2016 Sep 2;147(5):211-216. doi: 10.1016/j.medcli.2016.04.004. Epub 2016 May 18. Spanish. No abstract available.

PMID:
27209229
19.

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.

Gross O, Kashtan CE, Rheault MN, Flinter F, Savige J, Miner JH, Torra R, Ars E, Deltas C, Savva I, Perin L, Renieri A, Ariani F, Mari F, Baigent C, Judge P, Knebelman B, Heidet L, Lagas S, Blatt D, Ding J, Zhang Y, Gale DP, Prunotto M, Xue Y, Schachter AD, Morton LCG, Blem J, Huang M, Liu S, Vallee S, Renault D, Schifter J, Skelding J, Gear S, Friede T, Turner AN, Lennon R.

Nephrol Dial Transplant. 2017 Jun 1;32(6):916-924. doi: 10.1093/ndt/gfw095.

20.

PrEFiNe Plan: Strategic plan for Fabry diseases in Nephrology.

Del Pino MD, Ortiz A, Torra R, Hernandez D.

Nefrologia. 2016 Jul-Aug;36(4):376-80. doi: 10.1016/j.nefro.2016.03.009. Epub 2016 Apr 23. English, Spanish.

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