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Page 1
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
Novel heterozygous COL4A3 mutation in a family with late-onset ESRD.
Hoefele J, Lange-Sperandio B, Ruessmann D, Glöckner-Pagel J, Alberer M, Benz MR, Nagel M, Weber LT. Hoefele J, et al. Pediatr Nephrol. 2010 Aug;25(8):1539-42. doi: 10.1007/s00467-010-1467-4. Epub 2010 Feb 23. Pediatr Nephrol. 2010. PMID: 20177710
Rationale, design and objectives of ARegPKD, a European ARPKD registry study.
Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, Duzova A, Goebel H, Haffner D, Hero B, Hoppe B, Illig T, Jankauskiene A, Klopp N, König J, Litwin M, Mekahli D, Ranchin B, Sander A, Testa S, Weber LT, Wicher D, Yuzbasioglu A, Zerres K, Dötsch J, Schaefer F, Liebau MC; ESCAPE Study Group; GPN Study Group. Ebner K, et al. BMC Nephrol. 2015 Feb 18;16:22. doi: 10.1186/s12882-015-0002-z. BMC Nephrol. 2015. PMID: 25886171 Free PMC article.
Transitional Care and Adherence of Adolescents and Young Adults After Kidney Transplantation in Germany and Austria: A Binational Observatory Census Within the TRANSNephro Trial.
Kreuzer M, Prüfe J, Oldhafer M, Bethe D, Dierks ML, Müther S, Thumfart J, Hoppe B, Büscher A, Rascher W, Hansen M, Pohl M, Kemper MJ, Drube J, Rieger S, John U, Taylan C, Dittrich K, Hollenbach S, Klaus G, Fehrenbach H, Kranz B, Montoya C, Lange-Sperandio B, Ruckenbrodt B, Billing H, Staude H, Heindl-Rusai K, Brunkhorst R, Pape L. Kreuzer M, et al. Medicine (Baltimore). 2015 Dec;94(48):e2196. doi: 10.1097/MD.0000000000002196. Medicine (Baltimore). 2015. PMID: 26632907 Free PMC article.
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
Büscher AK, Beck BB, Melk A, Hoefele J, Kranz B, Bamborschke D, Baig S, Lange-Sperandio B, Jungraithmayr T, Weber LT, Kemper MJ, Tönshoff B, Hoyer PF, Konrad M, Weber S; German Pediatric Nephrology Association (GPN). Büscher AK, et al. Clin J Am Soc Nephrol. 2016 Feb 5;11(2):245-53. doi: 10.2215/CJN.07370715. Epub 2015 Dec 14. Clin J Am Soc Nephrol. 2016. PMID: 26668027 Free PMC article.
The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.
Azukaitis K, Simkova E, Majid MA, Galiano M, Benz K, Amann K, Bockmeyer C, Gajjar R, Meyers KE, Cheong HI, Lange-Sperandio B, Jungraithmayr T, Frémeaux-Bacchi V, Bergmann C, Bereczki C, Miklaszewska M, Csuka D, Prohászka Z, Killen P, Gipson P, Sampson MG, Lemaire M, Schaefer F. Azukaitis K, et al. J Am Soc Nephrol. 2017 Oct;28(10):3066-3075. doi: 10.1681/ASN.2017010031. Epub 2017 May 19. J Am Soc Nephrol. 2017. PMID: 28526779 Free PMC article.
54 results