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Page 1
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: stanescu h. 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.
Membranous nephropathy in the UK Biobank.
Hamilton P, Blaikie K, Roberts SA, Gittins M, Downie ML, Gupta S, Voinescu C, Kanigicherla D, Stanescu H, Kleta R, Brenchley P. Hamilton P, et al. Among authors: stanescu h. PLoS One. 2023 Apr 27;18(4):e0281795. doi: 10.1371/journal.pone.0281795. eCollection 2023. PLoS One. 2023. PMID: 37104302 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. 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.
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.
63 results