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Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies.
Sekula P, Li Y, Stanescu HC, Wuttke M, Ekici AB, Bockenhauer D, Walz G, Powis SH, Kielstein JT, Brenchley P; GCKD Investigators; Eckardt KU, Kronenberg F, Kleta R, Köttgen A. Sekula P, et al. Among authors: stanescu hc. Nephrol Dial Transplant. 2017 Feb 1;32(2):325-332. doi: 10.1093/ndt/gfw001. Epub 2016 Feb 4. Nephrol Dial Transplant. 2017. PMID: 27333618 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: stanescu hc. 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. N Engl J Med. 2011 Feb 17;364(7):616-26. doi: 10.1056/NEJMoa1009742. N Engl J Med. 2011. PMID: 21323541 Free article.
Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy.
Coenen MJ, Hofstra JM, Debiec H, Stanescu HC, Medlar AJ, Stengel B, Boland-Augé A, Groothuismink JM, Bockenhauer D, Powis SH, Mathieson PW, Brenchley PE, Kleta R, Wetzels JF, Ronco P. Coenen MJ, et al. Among authors: stanescu hc. J Am Soc Nephrol. 2013 Mar;24(4):677-83. doi: 10.1681/ASN.2012070730. Epub 2013 Feb 21. J Am Soc Nephrol. 2013. PMID: 23431073 Free PMC article.
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R. Jaureguiberry G, et al. Among authors: stanescu hc. Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23. Nephron Physiol. 2012. PMID: 23434854 Free PMC article.
60 results