Torra R - Search Results

1

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.

Rossetti S, Torra R, Coto E, Consugar M, Kubly V, Málaga S, Navarro M, El-Youssef M, Torres VE, Harris PC. Rossetti S, et al. Among authors: torra r. Kidney Int. 2003 Aug;64(2):391-403. doi: 10.1046/j.1523-1755.2003.00111.x. Kidney Int. 2003. PMID: 12846734 Free article.

2

Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease.

Torra R, Nicolau C, Badenas C, Brú C, Pérez L, Estivill X, Darnell A. Torra R, et al. J Am Soc Nephrol. 1996 Nov;7(11):2483-6. doi: 10.1681/ASN.V7112483. J Am Soc Nephrol. 1996. PMID: 8959643

3

Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication.

Torra R, Badenas C, Darnell A, Brú C, Escorsell A, Estivill X. Torra R, et al. Kidney Int. 1997 Jul;52(1):33-8. doi: 10.1038/ki.1997.300. Kidney Int. 1997. PMID: 9211343 Free article.

4

Facilitated diagnosis of the contiguous gene syndrome: tuberous sclerosis and polycystic kidneys by means of haplotype studies.

Torra R, Badenas C, Darnell A, Camacho JA, Aspinwall R, Harris PC, Estivill X. Torra R, et al. Am J Kidney Dis. 1998 Jun;31(6):1038-43. doi: 10.1053/ajkd.1998.v31.pm9631851. Am J Kidney Dis. 1998. PMID: 9631851

5

Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group.

Hateboer N, v Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL, Torra R, Breuning M, Ravine D. Hateboer N, et al. Among authors: torra r. Lancet. 1999 Jan 9;353(9147):103-7. doi: 10.1016/s0140-6736(98)03495-3. Lancet. 1999. PMID: 10023895

6

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

7

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.

8

Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue.

Ong AC, Ward CJ, Butler RJ, Biddolph S, Bowker C, Torra R, Pei Y, Harris PC. Ong AC, et al. Among authors: torra r. Am J Pathol. 1999 Jun;154(6):1721-9. doi: 10.1016/S0002-9440(10)65428-4. Am J Pathol. 1999. PMID: 10362797 Free PMC article.

9

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.

Torra R, Viribay M, Tellería D, Badenas C, Watson M, Harris P, Darnell A, San Millán JL. Torra R, et al. Kidney Int. 1999 Jul;56(1):28-33. doi: 10.1046/j.1523-1755.1999.00534.x. Kidney Int. 1999. PMID: 10411676 Free article.

10

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

Torra R, Badenas C, San Millán JL, Pérez-Oller L, Estivill X, Darnell A. Torra R, et al. Am J Hum Genet. 1999 Aug;65(2):345-52. doi: 10.1086/302501. Am J Hum Genet. 1999. PMID: 10417277 Free PMC article.

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