Rossetti S - Search Results

1

Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.

Monico CG, Rossetti S, Belostotsky R, Cogal AG, Herges RM, Seide BM, Olson JB, Bergstrahl EJ, Williams HJ, Haley WE, Frishberg Y, Milliner DS. Monico CG, et al. Among authors: rossetti s. Clin J Am Soc Nephrol. 2011 Sep;6(9):2289-95. doi: 10.2215/CJN.02760311. Clin J Am Soc Nephrol. 2011. PMID: 21896830 Free PMC article.

2

Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele.

Monico CG, Rossetti S, Olson JB, Milliner DS. Monico CG, et al. Among authors: rossetti s. Kidney Int. 2005 May;67(5):1704-9. doi: 10.1111/j.1523-1755.2005.00267.x. Kidney Int. 2005. PMID: 15840016 Free article.

3

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: rossetti s. 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

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: rossetti s. Nat Genet. 2002 Mar;30(3):259-69. doi: 10.1038/ng833. Epub 2002 Feb 4. Nat Genet. 2002. PMID: 11919560

5

Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease.

Irazabal MV, Huston J 3rd, Kubly V, Rossetti S, Sundsbak JL, Hogan MC, Harris PC, Brown RD Jr, Torres VE. Irazabal MV, et al. Among authors: rossetti s. Clin J Am Soc Nephrol. 2011 Jun;6(6):1274-85. doi: 10.2215/CJN.09731110. Epub 2011 May 5. Clin J Am Soc Nephrol. 2011. PMID: 21551026 Free PMC article.

6

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, Bennett WM, Meyers CM, Walker DL, Bae K, Zhang QJ, Thompson PA, Miller JP, Harris PC; CRISP Consortium. Rossetti S, et al. J Am Soc Nephrol. 2007 Jul;18(7):2143-60. doi: 10.1681/ASN.2006121387. Epub 2007 Jun 20. J Am Soc Nephrol. 2007. PMID: 17582161

7

Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics.

Vazifehmand R, Rossetti S, Saber S, Khorshid HR, Harris PC. Vazifehmand R, et al. Among authors: rossetti s. BMC Nephrol. 2013 Sep 8;14:190. doi: 10.1186/1471-2369-14-190. BMC Nephrol. 2013. PMID: 24011172 Free PMC article.

8

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Rossetti S, Hopp K, Sikkink RA, Sundsbak JL, Lee YK, Kubly V, Eckloff BW, Ward CJ, Winearls CG, Torres VE, Harris PC. Rossetti S, et al. J Am Soc Nephrol. 2012 May;23(5):915-33. doi: 10.1681/ASN.2011101032. Epub 2012 Mar 1. J Am Soc Nephrol. 2012. PMID: 22383692 Free PMC article.

9

Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease.

Rossetti S, Harris PC. Rossetti S, et al. J Am Soc Nephrol. 2007 May;18(5):1374-80. doi: 10.1681/ASN.2007010125. Epub 2007 Apr 11. J Am Soc Nephrol. 2007. PMID: 17429049 Review.

10

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. 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

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