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196 results

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Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.
Standing AS, Malinova D, Hong Y, Record J, Moulding D, Blundell MP, Nowak K, Jones H, Omoyinmi E, Gilmour KC, Medlar A, Stanescu H, Kleta R, Anderson G, Nanthapisal S, Gomes SM, Klein N, Eleftheriou D, Thrasher AJ, Brogan PA. Standing AS, et al. Among authors: kleta r. J Exp Med. 2017 Jan;214(1):59-71. doi: 10.1084/jem.20161228. Epub 2016 Dec 19. J Exp Med. 2017. PMID: 27994071 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. 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.
Cystinosis and mickey mouse.
Medlar A, Kleta R. Medlar A, et al. Among authors: kleta r. Nephrol Dial Transplant. 2010 Apr;25(4):1032-3. doi: 10.1093/ndt/gfp648. Epub 2009 Dec 3. Nephrol Dial Transplant. 2010. PMID: 19959600 No abstract available.
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.
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: kleta r. 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. Among authors: kleta r. 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.
196 results