Torres VE - Search Results

1

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.

Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Among authors: torres ve. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.

2

Continuous epithelial cell lines from ADPKD liver cysts exhibit characteristics of intrahepatic biliary epithelium.

Perrone RD, Grubman SA, Rogers LC, Lee DW, Moy E, Murray SL, Torres VE, Jefferson DM. Perrone RD, et al. Among authors: torres ve. Am J Physiol. 1995 Sep;269(3 Pt 1):G335-45. doi: 10.1152/ajpgi.1995.269.3.G335. Am J Physiol. 1995. PMID: 7573443

3

Quantification and longitudinal trends of kidney, renal cyst, and renal parenchyma volumes in autosomal dominant polycystic kidney disease.

King BF, Reed JE, Bergstralh EJ, Sheedy PF 2nd, Torres VE. King BF, et al. Among authors: torres ve. J Am Soc Nephrol. 2000 Aug;11(8):1505-1511. doi: 10.1681/ASN.V1181505. J Am Soc Nephrol. 2000. PMID: 10906164

4

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC. Ward CJ, et al. Among authors: torres ve. Nat Genet. 2002 Mar;30(3):259-69. doi: 10.1038/ng833. Epub 2002 Feb 4. Nat Genet. 2002. PMID: 11919560

5

The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease.

Rossetti S, Burton S, Strmecki L, Pond GR, San Millán JL, Zerres K, Barratt TM, Ozen S, Torres VE, Bergstralh EJ, Winearls CG, Harris PC. Rossetti S, et al. Among authors: torres ve. J Am Soc Nephrol. 2002 May;13(5):1230-7. doi: 10.1097/01.asn.0000013300.11876.37. J Am Soc Nephrol. 2002. PMID: 11961010

6

A complete mutation screen of the ADPKD genes by DHPLC.

Rossetti S, Chauveau D, Walker D, Saggar-Malik A, Winearls CG, Torres VE, Harris PC. Rossetti S, et al. Among authors: torres ve. Kidney Int. 2002 May;61(5):1588-99. doi: 10.1046/j.1523-1755.2002.00326.x. Kidney Int. 2002. PMID: 11967008 Free article.

7

Clinical profile of autosomal dominant polycystic liver disease.

Qian Q, Li A, King BF, Kamath PS, Lager DJ, Huston J 3rd, Shub C, Davila S, Somlo S, Torres VE. Qian Q, et al. Among authors: torres ve. Hepatology. 2003 Jan;37(1):164-71. doi: 10.1053/jhep.2003.50006. Hepatology. 2003. PMID: 12500201

8

The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1.

Walker D, Consugar M, Slezak J, Rossetti S, Torres VE, Winearls CG, Harris PC. Walker D, et al. Among authors: torres ve. Am J Kidney Dis. 2003 Jan;41(1):90-4. doi: 10.1053/ajkd.2003.50027. Am J Kidney Dis. 2003. PMID: 12500225

9

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.

Li A, Davila S, Furu L, Qian Q, Tian X, Kamath PS, King BF, Torres VE, Somlo S. Li A, et al. Among authors: torres ve. Am J Hum Genet. 2003 Mar;72(3):691-703. doi: 10.1086/368295. Epub 2003 Jan 15. Am J Hum Genet. 2003. PMID: 12529853 Free PMC article.

10

PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression.

Hogan MC, Griffin MD, Rossetti S, Torres VE, Ward CJ, Harris PC. Hogan MC, et al. Among authors: torres ve. Hum Mol Genet. 2003 Mar 15;12(6):685-98. Hum Mol Genet. 2003. PMID: 12620974

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