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Page 1
Glomerular Pathology in Dent Disease and Its Association with Kidney Function.
Wang X, Anglani F, Beara-Lasic L, Mehta AJ, Vaughan LE, Herrera Hernandez L, Cogal A, Scheinman SJ, Ariceta G, Isom R, Copelovitch L, Enders FT, Del Prete D, Vezzoli G, Paglialonga F, Harris PC, Lieske JC; Investigators of the Rare Kidney Stone Consortium. Wang X, et al. Among authors: scheinman sj. Clin J Am Soc Nephrol. 2016 Dec 7;11(12):2168-2176. doi: 10.2215/CJN.03710416. Epub 2016 Oct 3. Clin J Am Soc Nephrol. 2016. PMID: 27697782 Free PMC article.
Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts.
Beara-Lasic L, Cogal A, Mara K, Enders F, Mehta RA, Haskic Z, Furth SL, Trachtman H, Scheinman SJ, Milliner DS, Goldfarb DS, Harris PC, Lieske JC; investigators of the Rare Kidney Stone Consortium. Beara-Lasic L, et al. Among authors: scheinman sj. Pediatr Nephrol. 2020 Apr;35(4):633-640. doi: 10.1007/s00467-019-04210-0. Epub 2019 Mar 10. Pediatr Nephrol. 2020. PMID: 30852663 Free PMC article.
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.
Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ Jr, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS. Bleyer AJ, et al. Among authors: scheinman sj. Clin J Am Soc Nephrol. 2014 Mar;9(3):527-35. doi: 10.2215/CJN.06380613. Epub 2014 Feb 7. Clin J Am Soc Nephrol. 2014. PMID: 24509297 Free PMC article.
Responsiveness of hypercalciuria to thiazide in Dent's disease.
Raja KA, Schurman S, D'mello RG, Blowey D, Goodyer P, Van Why S, Ploutz-Snyder RJ, Asplin J, Scheinman SJ. Raja KA, et al. Among authors: scheinman sj. J Am Soc Nephrol. 2002 Dec;13(12):2938-44. doi: 10.1097/01.asn.0000036869.82685.f6. J Am Soc Nephrol. 2002. PMID: 12444212 Clinical Trial.
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ. Kirby A, et al. Among authors: scheinman sj. Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10. Nat Genet. 2013. PMID: 23396133 Free PMC article.
Evidence for genetic heterogeneity in Dent's disease.
Hoopes RR Jr, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, Scheinman SJ. Hoopes RR Jr, et al. Among authors: scheinman sj. Kidney Int. 2004 May;65(5):1615-20. doi: 10.1111/j.1523-1755.2004.00571.x. Kidney Int. 2004. PMID: 15086899 Free article.
Clinical features of X-linked nephrolithiasis in childhood.
Langlois V, Bernard C, Scheinman SJ, Thakker RV, Cox JP, Goodyer PR. Langlois V, et al. Among authors: scheinman sj. Pediatr Nephrol. 1998 Oct;12(8):625-9. doi: 10.1007/s004670050516. Pediatr Nephrol. 1998. PMID: 9811383
Dent Disease with mutations in OCRL1.
Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ. Hoopes RR Jr, et al. Among authors: scheinman sj. Am J Hum Genet. 2005 Feb;76(2):260-7. doi: 10.1086/427887. Epub 2004 Dec 30. Am J Hum Genet. 2005. PMID: 15627218 Free PMC article.
64 results