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Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.
Lehnhardt A, Karnatz C, Ahlenstiel-Grunow T, Benz K, Benz MR, Budde K, Büscher AK, Fehr T, Feldkötter M, Graf N, Höcker B, Jungraithmayr T, Klaus G, Koehler B, Konrad M, Kranz B, Montoya CR, Müller D, Neuhaus TJ, Oh J, Pape L, Pohl M, Royer-Pokora B, Querfeld U, Schneppenheim R, Staude H, Spartà G, Timmermann K, Wilkening F, Wygoda S, Bergmann C, Kemper MJ. Lehnhardt A, et al. Among authors: benz k, benz mr. Clin J Am Soc Nephrol. 2015 May 7;10(5):825-31. doi: 10.2215/CJN.10141014. Epub 2015 Mar 27. Clin J Am Soc Nephrol. 2015. PMID: 25818337 Free PMC article.
Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.
Chernin G, Vega-Warner V, Schoeb DS, Heeringa SF, Ovunc B, Saisawat P, Cleper R, Ozaltin F, Hildebrandt F; Members of the GPN Study Group. Chernin G, et al. Clin J Am Soc Nephrol. 2010 Sep;5(9):1655-62. doi: 10.2215/CJN.09351209. Epub 2010 Jul 1. Clin J Am Soc Nephrol. 2010. PMID: 20595692 Free PMC article.
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.
Burgmaier K, Kunzmann K, Ariceta G, Bergmann C, Buescher AK, Burgmaier M, Dursun I, Duzova A, Eid L, Erger F, Feldkoetter M, Galiano M, Geßner M, Goebel H, Gokce I, Haffner D, Hooman N, Hoppe B, Jankauskiene A, Klaus G, König J, Litwin M, Massella L, Mekahli D, Melek E, Mir S, Pape L, Prikhodina L, Ranchin B, Schild R, Seeman T, Sever L, Shroff R, Soliman NA, Stabouli S, Stanczyk M, Tabel Y, Taranta-Janusz K, Testa S, Thumfart J, Topaloglu R, Weber LT, Wicher D, Wühl E, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Zerres K; ESCAPE Study Group; GPN Study Group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. J Pediatr. 2018 Aug;199:22-28.e6. doi: 10.1016/j.jpeds.2018.03.052. Epub 2018 May 9. J Pediatr. 2018. PMID: 29753540
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
Bergmann C, von Bothmer J, Ortiz Brüchle N, Venghaus A, Frank V, Fehrenbach H, Hampel T, Pape L, Buske A, Jonsson J, Sarioglu N, Santos A, Ferreira JC, Becker JU, Cremer R, Hoefele J, Benz MR, Weber LT, Buettner R, Zerres K. Bergmann C, et al. Among authors: benz mr. J Am Soc Nephrol. 2011 Nov;22(11):2047-56. doi: 10.1681/ASN.2010101080. Epub 2011 Oct 27. J Am Soc Nephrol. 2011. PMID: 22034641 Free PMC article.
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. Among authors: benz mr. 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
Pediatric idiopathic steroid-sensitive nephrotic syndrome: diagnosis and therapy -short version of the updated German best practice guideline (S2e) - AWMF register no. 166-001, 6/2020.
Ehren R, Benz MR, Brinkkötter PT, Dötsch J, Eberl WR, Gellermann J, Hoyer PF, Jordans I, Kamrath C, Kemper MJ, Latta K, Müller D, Oh J, Tönshoff B, Weber S, Weber LT; German Society for Pediatric Nephrology. Ehren R, et al. Among authors: benz mr. Pediatr Nephrol. 2021 Oct;36(10):2971-2985. doi: 10.1007/s00467-021-05135-3. Epub 2021 Jun 6. Pediatr Nephrol. 2021. PMID: 34091756 Free PMC article. Review.
Initial treatment of steroid-sensitive idiopathic nephrotic syndrome in children with mycophenolate mofetil versus prednisone: protocol for a randomised, controlled, multicentre trial (INTENT study).
Ehren R, Benz MR, Doetsch J, Fichtner A, Gellermann J, Haffner D, Höcker B, Hoyer PF, Kästner B, Kemper MJ, Konrad M, Luntz S, Querfeld U, Sander A, Toenshoff B, Weber LT; Gesellschaft für Pädiatrische Nephrologie (GPN). Ehren R, et al. Among authors: benz mr. BMJ Open. 2018 Oct 10;8(10):e024882. doi: 10.1136/bmjopen-2018-024882. BMJ Open. 2018. PMID: 30309995 Free PMC article.
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD).
Burgmaier K, Ariceta G, Bald M, Buescher AK, Burgmaier M, Erger F, Gessner M, Gokce I, König J, Kowalewska C, Massella L, Mastrangelo A, Mekahli D, Pape L, Patzer L, Potemkina A, Schalk G, Schild R, Shroff R, Szczepanska M, Taranta-Janusz K, Tkaczyk M, Weber LT, Wühl E, Wurm D, Wygoda S, Zagozdzon I, Dötsch J, Oh J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Sci Rep. 2020 Sep 29;10(1):16025. doi: 10.1038/s41598-020-71956-1. Sci Rep. 2020. PMID: 32994492 Free PMC article.
110 results