Torra R - Search Results

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. Savige J, et al. Among authors: torra r. Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9. Pediatr Nephrol. 2019. PMID: 29987460 Free article. Review.

2

Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families.

Torra R, Badenas C, Cofán F, Callis L, Pérez-Oller L, Darnell A. Torra R, et al. Nephrol Dial Transplant. 1999 Mar;14(3):627-30. doi: 10.1093/ndt/14.3.627. Nephrol Dial Transplant. 1999. PMID: 10193810

3

[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.

4

[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.

5

Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.

Tazón Vega B, Badenas C, Ars E, Lens X, Milà M, Darnell A, Torra R. Tazón Vega B, et al. Among authors: torra r. Am J Kidney Dis. 2003 Nov;42(5):952-9. doi: 10.1016/j.ajkd.2003.08.002. Am J Kidney Dis. 2003. PMID: 14582039

6

Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure.

Torra R, Tazón-Vega B, Ars E, Ballarín J. Torra R, et al. Nephrol Dial Transplant. 2004 Oct;19(10):2429-32. doi: 10.1093/ndt/gfh435. Epub 2004 Jul 27. Nephrol Dial Transplant. 2004. PMID: 15280517 Review. No abstract available.

7

Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype.

Ars E, Tazón-Vega B, Ruiz P, Nogués C, Arnedo N, Rajmil O, Torra R. Ars E, et al. Among authors: torra r. Eur J Hum Genet. 2005 Sep;13(9):1040-6. doi: 10.1038/sj.ejhg.5201452. Eur J Hum Genet. 2005. PMID: 15957001

8

[Collagen IV (alpha3-alpha4) nephropathy].

Torra R, Tazón B, Ars E, Ballarín J. Torra R, et al. Nefrologia. 2005;25 Suppl 2:29-32. Nefrologia. 2005. PMID: 16050399 Free article. Spanish.

9

Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1.

Tazón-Vega B, Vilardell M, Pérez-Oller L, Ars E, Ruiz P, Devuyst O, Lens X, Fernández-Llama P, Ballarín J, Torra R. Tazón-Vega B, et al. Among authors: torra r. Nephrol Dial Transplant. 2007 Jun;22(6):1567-77. doi: 10.1093/ndt/gfm036. Epub 2007 Feb 15. Nephrol Dial Transplant. 2007. PMID: 17303584

10

Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

Tazón-Vega B, Ars E, Burset M, Santín S, Ruíz P, Fernández-Llama P, Ballarín J, Torra R. Tazón-Vega B, et al. Among authors: torra r. Am J Kidney Dis. 2007 Aug;50(2):257.e1-14. doi: 10.1053/j.ajkd.2007.05.004. Am J Kidney Dis. 2007. PMID: 17660027

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