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Page 1
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: ravine d. Am J Hum Genet. 1997 Sep;61(3):547-55. doi: 10.1086/515497. Am J Hum Genet. 1997. PMID: 9326320 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: ravine d. 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.
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: ravine d. 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: ravine d. 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.
Analysis of published PKD1 gene sequence variants.
Gout AM; ADPKD Gene Variant Consortium; Ravine D, Harris PC, Rossetti S, Peters D, Breuning M, Henske EP, Koizumi A, Inoue S, Shimizu Y, Thongnoppakhun W, Yenchitsomanus PT, Deltas C, Sandford R, Torra R, Turco AE, Jeffery S, Fontes M, Somlo S, Furu LM, Smulders YM, Mercier B, Ferec C, Burtey S, Pei Y, Kalaydjieva L, Bogdanova N, McCluskey M, Geon LJ, Wouters CH, Reiterova J, Stekrová J, San Millan JL, Aguiari G, Del Senno L. Gout AM, et al. Among authors: ravine d. Nat Genet. 2007 Apr;39(4):427-8. doi: 10.1038/ng0407-427. Nat Genet. 2007. PMID: 17392796 Review. No abstract available.
84 results