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Page 1
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.
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.
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.
A patient with polyuria and hydronephrosis: question.
Jaureguiberry G, Van't Hoff W, Mushtaq I, Desai D, Mann NP, Kleta R, Bichet DG, Bockenhauer D. Jaureguiberry G, et al. Among authors: bockenhauer d. Pediatr Nephrol. 2011 Nov;26(11):1977-8, 1979-80. doi: 10.1007/s00467-011-1780-6. Epub 2011 Feb 8. Pediatr Nephrol. 2011. PMID: 21301887 No abstract available.
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
Stanescu HC, Arcos-Burgos M, Medlar A, Bockenhauer D, Kottgen A, Dragomirescu L, Voinescu C, Patel N, Pearce K, Hubank M, Stephens HA, Laundy V, Padmanabhan S, Zawadzka A, Hofstra JM, Coenen MJ, den Heijer M, Kiemeney LA, Bacq-Daian D, Stengel B, Powis SH, Brenchley P, Feehally J, Rees AJ, Debiec H, Wetzels JF, Ronco P, Mathieson PW, Kleta R. Stanescu HC, et al. Among authors: bockenhauer d. N Engl J Med. 2011 Feb 17;364(7):616-26. doi: 10.1056/NEJMoa1009742. N Engl J Med. 2011. PMID: 21323541 Free article.
Genetic testing in renal disease.
Bockenhauer D, Medlar AJ, Ashton E, Kleta R, Lench N. Bockenhauer D, et al. Pediatr Nephrol. 2012 Jun;27(6):873-83. doi: 10.1007/s00467-011-1865-2. Epub 2011 May 27. Pediatr Nephrol. 2012. PMID: 21617915 Review.
249 results