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Page 1
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S. Zivná M, et al. Among authors: hart ps, hart tc. Am J Hum Genet. 2009 Aug;85(2):204-13. doi: 10.1016/j.ajhg.2009.07.010. Epub 2009 Aug 6. Am J Hum Genet. 2009. PMID: 19664745 Free PMC article.
Genetic factors associated with gout and hyperuricemia.
Bleyer AJ, Hart TC. Bleyer AJ, et al. Among authors: hart tc. Adv Chronic Kidney Dis. 2006 Apr;13(2):124-30. doi: 10.1053/j.ackd.2006.01.008. Adv Chronic Kidney Dis. 2006. PMID: 16580613 Review.
Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.
Bleyer AJ, Zivná M, Hulková H, Hodanová K, Vyletal P, Sikora J, Zivný J, Sovová J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS. Bleyer AJ, et al. Among authors: hart ps, hart tc. Clin Nephrol. 2010 Dec;74(6):411-22. doi: 10.5414/cnp74411. Clin Nephrol. 2010. PMID: 21084044 Free PMC article.
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.
Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D. Hart TC, et al. Among authors: hart ps. Am J Hum Genet. 2002 Apr;70(4):943-54. doi: 10.1086/339689. Epub 2002 Feb 26. Am J Hum Genet. 2002. PMID: 11868160 Free PMC article.
Polycystic kidney disease.
Bleyer AJ, Hart TC. Bleyer AJ, et al. Among authors: hart tc. N Engl J Med. 2004 Jun 17;350(25):2622; author reply 2622. doi: 10.1056/NEJM200406173502519. N Engl J Med. 2004. PMID: 15201424 No abstract available.
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: hart ps, hart tc. 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.
Medullary cystic kidney disease type 2.
Bleyer AJ, Hart TC. Bleyer AJ, et al. Among authors: hart tc. Am J Kidney Dis. 2004 Jun;43(6):1142; author reply 1142-3. doi: 10.1053/j.ajkd.2004.03.039. Am J Kidney Dis. 2004. PMID: 15168406 Review. No abstract available.
Familial juvenile hyperuricaemic nephropathy.
Bleyer AJ, Hart TC. Bleyer AJ, et al. Among authors: hart tc. QJM. 2003 Nov;96(11):867-8. doi: 10.1093/qjmed/hcg141. QJM. 2003. PMID: 14566042 No abstract available.
180 results