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Familial membranous nephropathy: an X-linked genetic susceptibility?
Bockenhauer D, Debiec H, Sebire N, Barratt M, Warwicker P, Ronco P, Kleta R. Bockenhauer D, et al. Among authors: kleta r. Nephron Clin Pract. 2008;108(1):c10-5. doi: 10.1159/000112466. Epub 2007 Dec 13. Nephron Clin Pract. 2008. PMID: 18075275
Aminoacidurias: Clinical and molecular aspects.
Camargo SM, Bockenhauer D, Kleta R. Camargo SM, et al. Among authors: kleta r. Kidney Int. 2008 Apr;73(8):918-25. doi: 10.1038/sj.ki.5002790. Epub 2008 Jan 16. Kidney Int. 2008. PMID: 18200002 Free article. Review.
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. Among authors: kleta r. 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.
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ. Landouré G, et al. Among authors: kleta r. Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037586 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: kleta r. 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: kleta r. 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.
196 results