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Page 1
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
Dufek S, Cheshire C, Levine AP, Trompeter RS, Issler N, Stubbs M, Mozere M, Gupta S, Klootwijk E, Patel V, Hothi D, Waters A, Webb H, Tullus K, Jenkins L, Godinho L, Levtchenko E, Wetzels J, Knoers N, Teeninga N, Nauta J, Shalaby M, Eldesoky S, Kari JA, Thalgahagoda S, Ranawaka R, Abeyagunawardena A, Adeyemo A, Kristiansen M, Gbadegesin R, Webb NJ, Gale DP, Stanescu HC, Kleta R, Bockenhauer D. Dufek S, et al. Among authors: bockenhauer d. J Am Soc Nephrol. 2019 Aug;30(8):1375-1384. doi: 10.1681/ASN.2018101054. Epub 2019 Jul 1. J Am Soc Nephrol. 2019. PMID: 31263063 Free PMC article.
Bartter syndromes and other salt-losing tubulopathies.
Kleta R, Bockenhauer D. Kleta R, et al. Among authors: bockenhauer d. Nephron Physiol. 2006;104(2):p73-80. doi: 10.1159/000094001. Epub 2006 Jun 19. Nephron Physiol. 2006. PMID: 16785747 Free article. Review.
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.
Bockenhauer D, Bokenkamp A, van't Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M. Bockenhauer D, et al. Clin J Am Soc Nephrol. 2008 Sep;3(5):1430-6. doi: 10.2215/CJN.00520108. Epub 2008 May 14. Clin J Am Soc Nephrol. 2008. PMID: 18480301 Free PMC article.
Calcineurin-inhibitor free immunosuppression with mycophenolate mofetil and corticosteroids in paediatric renal transplantation improves renal allograft function without increasing acute rejection.
Krischock L, Gullett A, Bockenhauer D, Rees L, Trompeter RS, Marks SD. Krischock L, et al. Among authors: bockenhauer d. Pediatr Transplant. 2009 Jun;13(4):475-81. doi: 10.1111/j.1399-3046.2008.01031.x. Epub 2008 Nov 3. Pediatr Transplant. 2009. PMID: 18992054
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.
Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D. Adalat S, et al. Among authors: bockenhauer d. J Am Soc Nephrol. 2009 May;20(5):1123-31. doi: 10.1681/ASN.2008060633. Epub 2009 Apr 23. J Am Soc Nephrol. 2009. PMID: 19389850 Free PMC article.
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R. Bockenhauer D, et al. N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276. N Engl J Med. 2009. PMID: 19420365 Free PMC article.
Successful renal transplantation in factor H autoantibody associated HUS with CFHR1 and 3 deficiency and CFH variant G2850T.
Waters AM, Pappworth I, Marchbank K, Bockenhauer D, Tullus K, Pickering MC, Strain L, Sebire N, Shroff R, Marks SD, Goodship TH, Rees L. Waters AM, et al. Among authors: bockenhauer d. Am J Transplant. 2010 Jan;10(1):168-72. doi: 10.1111/j.1600-6143.2009.02870.x. Epub 2009 Nov 16. Am J Transplant. 2010. PMID: 19951285 Free article.
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.
Thompson DA, Feather S, Stanescu HC, Freudenthal B, Zdebik AA, Warth R, Ognjanovic M, Hulton SA, Wassmer E, van't Hoff W, Russell-Eggitt I, Dobbie A, Sheridan E, Kleta R, Bockenhauer D. Thompson DA, et al. Among authors: bockenhauer d. J Physiol. 2011 Apr 1;589(Pt 7):1681-9. doi: 10.1113/jphysiol.2010.198531. Epub 2011 Feb 7. J Physiol. 2011. PMID: 21300747 Free PMC article.
249 results