HuGE Literature Finder
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| Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. Pediatric nephrology (Berlin, Germany) 2016 Jan . Weber Stefanie, Strasser Katja, Rath Sabine, Kittke Achim, Beicht Sonja, Alberer Martin, Lange-Sperandio Bärbel, Hoyer Peter F, Benz Marcus R, Ponsel Sabine, Weber Lutz T, Klein Hanns-Georg, Hoefele Jul |
| COL4A3 mutations cause focal segmental glomerulosclerosis. Journal of molecular cell biology 2014 Dec 6 (6): 498-505. Xie Jingyuan, Wu Xiaoxi, Ren Hong, Wang Weiming, Wang Zhaohui, Pan Xiaoxia, Hao Xu, Tong Jun, Ma Jun, Ye Zhibin, Meng Guoyu, Zhu Yufei, Kiryluk Krzysztof, Kong Xiangyin, Hu Landian, Chen N |
| Epistatic role of the MYH9/APOL1 region on familial hematuria genes. PloS one 2013 8 (3): e57925. Voskarides Konstantinos, Demosthenous Panayiota, Papazachariou Louiza, Arsali Maria, Athanasiou Yiannis, Zavros Michalis, Stylianou Kostas, Xydakis Dimitris, Daphnis Eugenios, Gale Daniel P, Maxwell Patrick H, Elia Avraam, Pattaro Cristian, Pierides Alkis, Deltas Constantin |
| Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria. Pediatric nephrology (Berlin, Germany) 2012 Apr 27 (4): 675-9. Voskarides Konstantinos, Arsali Maria, Athanasiou Yiannis, Elia Avraam, Pierides Alkis, Deltas Constantin |
| The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. Pediatric nephrology (Berlin, Germany) 2008 Dec 23 (12): 2201-7. Tonna Stephen, Wang Yan Yan, Wilson Diane, Rigby Lin, Tabone Tania, Cotton Richard, Savige Ju |
| COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN). Kidney international 2004 Mar 65 (3): 786-90. Wang Yan Yan, Rana Kesha, Tonna Stephen, Lin Tina, Sin Lydia, Savige Ju |
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