Harris PC - Search Results

1

Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.

Monico CG, Rossetti S, Schwanz HA, Olson JB, Lundquist PA, Dawson DB, Harris PC, Milliner DS. Monico CG, et al. Among authors: harris pc. J Am Soc Nephrol. 2007 Jun;18(6):1905-14. doi: 10.1681/ASN.2006111230. Epub 2007 Apr 25. J Am Soc Nephrol. 2007. PMID: 17460142

2

Neonatal presentation of autosomal dominant polycystic kidney disease with a maternal history of tuberous sclerosis.

Griffin MD, Gamble V, Milliner DS, Gomez MR, Harris PC, Torres VE. Griffin MD, et al. Among authors: harris pc. Nephrol Dial Transplant. 1997 Nov;12(11):2284-8. doi: 10.1093/ndt/12.11.2284. Nephrol Dial Transplant. 1997. PMID: 9394312

3

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

Rossetti S, Strmecki L, Gamble V, Burton S, Sneddon V, Peral B, Roy S, Bakkaloglu A, Komel R, Winearls CG, Harris PC. Rossetti S, et al. Among authors: harris pc. Am J Hum Genet. 2001 Jan;68(1):46-63. doi: 10.1086/316939. Epub 2000 Dec 12. Am J Hum Genet. 2001. PMID: 11115377 Free PMC article.

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: harris pc. 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: harris pc. 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: harris pc. 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

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: harris pc. Am J Kidney Dis. 2003 Jan;41(1):90-4. doi: 10.1053/ajkd.2003.50027. Am J Kidney Dis. 2003. PMID: 12500225

8

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: harris pc. Hum Mol Genet. 2003 Mar 15;12(6):685-98. Hum Mol Genet. 2003. PMID: 12620974

9

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

Rossetti S, Chauveau D, Kubly V, Slezak JM, Saggar-Malik AK, Pei Y, Ong AC, Stewart F, Watson ML, Bergstralh EJ, Winearls CG, Torres VE, Harris PC. Rossetti S, et al. Among authors: harris pc. Lancet. 2003 Jun 28;361(9376):2196-201. doi: 10.1016/S0140-6736(03)13773-7. Lancet. 2003. PMID: 12842373

10

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: harris pc. Kidney Int. 2003 Aug;64(2):391-403. doi: 10.1046/j.1523-1755.2003.00111.x. Kidney Int. 2003. PMID: 12846734 Free article.

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