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Page 1
Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.
Reynolds DM, Hayashi T, Cai Y, Veldhuisen B, Watnick TJ, Lens XM, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning MH, Germino GG, Peters DJ, Somlo S. Reynolds DM, et al. Among authors: coto e. J Am Soc Nephrol. 1999 Nov;10(11):2342-51. doi: 10.1681/ASN.V10112342. J Am Soc Nephrol. 1999. PMID: 10541293
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, Nørby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJ. Veldhuisen B, et al. Among authors: coto e. Am J Hum Genet. 1997 Sep;61(3):547-55. doi: 10.1086/515497. Am J Hum Genet. 1997. PMID: 9326320 Free PMC article.
Location of mutations within the PKD2 gene influences clinical outcome.
Hateboer N, Veldhuisen B, Peters D, Breuning MH, San-Millán JL, Bogdanova N, Coto E, van Dijk MA, Afzal AR, Jeffery S, Saggar-Malik AK, Torra R, Dimitrakov D, Martinez I, de Castro SS, Krawczak M, Ravine D. Hateboer N, et al. Among authors: coto e. Kidney Int. 2000 Apr;57(4):1444-51. doi: 10.1046/j.1523-1755.2000.00989.x. Kidney Int. 2000. PMID: 10760080 Free article.
Unified criteria for ultrasonographic diagnosis of ADPKD.
Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D. Pei Y, et al. Among authors: coto e. J Am Soc Nephrol. 2009 Jan;20(1):205-12. doi: 10.1681/ASN.2008050507. Epub 2008 Oct 22. J Am Soc Nephrol. 2009. PMID: 18945943 Free PMC article.
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D, Pei Y. Magistroni R, et al. Among authors: coto e. J Am Soc Nephrol. 2003 May;14(5):1164-74. doi: 10.1097/01.asn.0000061774.90975.25. J Am Soc Nephrol. 2003. PMID: 12707387 Free article.
Genetic variation of DKK3 may modify renal disease severity in ADPKD.
Liu M, Shi S, Senthilnathan S, Yu J, Wu E, Bergmann C, Zerres K, Bogdanova N, Coto E, Deltas C, Pierides A, Demetriou K, Devuyst O, Gitomer B, Laakso M, Lumiaho A, Lamnissou K, Magistroni R, Parfrey P, Breuning M, Peters DJ, Torra R, Winearls CG, Torres VE, Harris PC, Paterson AD, Pei Y. Liu M, et al. Among authors: coto e. J Am Soc Nephrol. 2010 Sep;21(9):1510-20. doi: 10.1681/ASN.2010030237. Epub 2010 Jul 8. J Am Soc Nephrol. 2010. PMID: 20616171 Free PMC article.
390 results