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Page 1
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F. Warejko JK, et al. Among authors: buscher r. Clin J Am Soc Nephrol. 2018 Jan 6;13(1):53-62. doi: 10.2215/CJN.04120417. Epub 2017 Nov 10. Clin J Am Soc Nephrol. 2018. PMID: 29127259 Free PMC article.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. Sadowski CE, et al. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27. J Am Soc Nephrol. 2015. PMID: 25349199 Free PMC article.
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Büscher AK, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Bröking E, Wingen AM, John U, Kemper M, Monnens L, Hoyer PF, Weber S, Konrad M. Büscher AK, et al. Among authors: buscher r. Clin J Am Soc Nephrol. 2010 Nov;5(11):2075-84. doi: 10.2215/CJN.01190210. Epub 2010 Aug 26. Clin J Am Soc Nephrol. 2010. PMID: 20798252 Free PMC article.
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
Braun DA, Sadowski CE, Kohl S, Lovric S, Astrinidis SA, Pabst WL, Gee HY, Ashraf S, Lawson JA, Shril S, Airik M, Tan W, Schapiro D, Rao J, Choi WI, Hermle T, Kemper MJ, Pohl M, Ozaltin F, Konrad M, Bogdanovic R, Büscher R, Helmchen U, Serdaroglu E, Lifton RP, Antonin W, Hildebrandt F. Braun DA, et al. Among authors: buscher r. Nat Genet. 2016 Apr;48(4):457-65. doi: 10.1038/ng.3512. Epub 2016 Feb 15. Nat Genet. 2016. PMID: 26878725 Free PMC article.
Cardiac geometry in children receiving chronic peritoneal dialysis: findings from the International Pediatric Peritoneal Dialysis Network (IPPN) registry.
Bakkaloglu SA, Borzych D, Soo Ha I, Serdaroglu E, Büscher R, Salas P, Patel H, Drozdz D, Vondrak K, Watanabe A, Villagra J, Yavascan O, Valenzuela M, Gipson D, Ng KH, Warady BA, Schaefer F; International Pediatric Peritoneal Dialysis Network. Bakkaloglu SA, et al. Among authors: buscher r. Clin J Am Soc Nephrol. 2011 Aug;6(8):1926-33. doi: 10.2215/CJN.05990710. Epub 2011 Jul 7. Clin J Am Soc Nephrol. 2011. PMID: 21737855 Free PMC article.
FAT1 mutations cause a glomerulotubular nephropathy.
Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J, Fang H, Airik R, Vega-Warner V, Cho KJ, Chan TA, Morris LG, ffrench-Constant C, Allen N, McNeill H, Büscher R, Kyrieleis H, Wallot M, Gaspert A, Kistler T, Milford DV, Saleem MA, Keng WT, Alexander SI, Valentini RP, Licht C, Teh JC, Bogdanovic R, Koziell A, Bierzynska A, Soliman NA, Otto EA, Lifton RP, Holzman LB, Sibinga NE, Walz G, Tufro A, Hildebrandt F. Gee HY, et al. Among authors: buscher r. Nat Commun. 2016 Feb 24;7:10822. doi: 10.1038/ncomms10822. Nat Commun. 2016. PMID: 26905694 Free PMC article.
The Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C) study: objectives, design, and methodology.
Querfeld U, Anarat A, Bayazit AK, Bakkaloglu AS, Bilginer Y, Caliskan S, Civilibal M, Doyon A, Duzova A, Kracht D, Litwin M, Melk A, Mir S, Sözeri B, Shroff R, Zeller R, Wühl E, Schaefer F; 4C Study Group. Querfeld U, et al. Clin J Am Soc Nephrol. 2010 Sep;5(9):1642-8. doi: 10.2215/CJN.08791209. Epub 2010 Jun 24. Clin J Am Soc Nephrol. 2010. PMID: 20576824 Free PMC article.
Management of anemia in children receiving chronic peritoneal dialysis.
Borzych-Duzalka D, Bilginer Y, Ha IS, Bak M, Rees L, Cano F, Munarriz RL, Chua A, Pesle S, Emre S, Urzykowska A, Quiroz L, Ruscasso JD, White C, Pape L, Ramela V, Printza N, Vogel A, Kuzmanovska D, Simkova E, Müller-Wiefel DE, Sander A, Warady BA, Schaefer F; International Pediatric Peritoneal Dialysis Network (IPPN) Registry. Borzych-Duzalka D, et al. J Am Soc Nephrol. 2013 Mar;24(4):665-76. doi: 10.1681/ASN.2012050433. Epub 2013 Mar 7. J Am Soc Nephrol. 2013. PMID: 23471197 Free PMC article.
Impact of global economic disparities on practices and outcomes of chronic peritoneal dialysis in children: insights from the International Pediatric Peritoneal Dialysis Network Registry.
Schaefer F, Borzych-Duzalka D, Azocar M, Munarriz RL, Sever L, Aksu N, Barbosa LS, Galan YS, Xu H, Coccia PA, Szabo A, Wong W, Salim R, Vidal E, Pottoore S, Warady BA; IPPN investigators. Schaefer F, et al. Perit Dial Int. 2012 Jul-Aug;32(4):399-409. doi: 10.3747/pdi.2012.00126. Perit Dial Int. 2012. PMID: 22859840 Free PMC article.
120 results