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Page 1
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: knohl 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.
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: knohl 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.
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
Shrimpton AE, Hoopes RR Jr, Knohl SJ, Hueber P, Reed AA, Christie PT, Igarashi T, Lee P, Lehman A, White C, Milford DV, Sanchez MR, Unwin R, Wrong OM, Thakker RV, Scheinman SJ. Shrimpton AE, et al. Among authors: knohl sj. Nephron Physiol. 2009;112(2):p27-36. doi: 10.1159/000213506. Epub 2009 Apr 18. Nephron Physiol. 2009. PMID: 19390221
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: knohl 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.
Ortner syndrome in an elderly vasculopath.
Menon MC, Benjamin S, Paul M, Knohl SJ. Menon MC, et al. Among authors: knohl sj. South Med J. 2008 Dec;101(12):1279. doi: 10.1097/SMJ.0b013e318185732d. South Med J. 2008. PMID: 19005441 No abstract available.
20 results