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Page 1
Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis.
Hohenfellner K, Nießl C, Haffner D, Oh J, Okorn C, Palm K, Schlingmann KP, Wygoda S, Gahl WA. Hohenfellner K, et al. Among authors: okorn c. Mol Genet Metab. 2022 Aug;136(4):282-288. doi: 10.1016/j.ymgme.2022.06.009. Epub 2022 Jul 1. Mol Genet Metab. 2022. PMID: 35843134 Free PMC article.
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC, Karsay R, Gerß J, Schlingmann KP, Dahmer-Heath M, Telgmann AK, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-Thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra JP, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, Konrad M; NEOCYST consortium. König JC, et al. Kidney Int Rep. 2022 Jun 16;7(9):2016-2028. doi: 10.1016/j.ekir.2022.05.035. eCollection 2022 Sep. Kidney Int Rep. 2022. PMID: 36090483 Free PMC article.
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF, Weber S. Okorn C, et al. Pediatr Nephrol. 2019 Jun;34(6):1065-1075. doi: 10.1007/s00467-018-4188-8. Epub 2019 Jan 21. Pediatr Nephrol. 2019. PMID: 30666461
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B, Richard J, Guigonis V, Weber S, König J, Heidet L, Moussaoui N, Vu JP, Faguer S, Casemayou A, Prakash R, Baudouin V, Hogan J, Alexandrou D, Bockenhauer D, Bacchetta J, Ranchin B, Pruhova S, Zieg J, Lahoche A, Okorn C, Antal-Kónya V, Morin D, Becherucci F, Habbig S, Liebau MC, Mauras M, Nijenhuis T, Llanas B, Mekahli D, Thumfart J, Tönshoff B, Massella L, Eckart P, Cloarec S, Cruz A, Patzer L, Roussey G, Vrillon I, Dunand O, Bessenay L, Taroni F, Zaniew M, Louillet F, Bergmann C, Schaefer F, van Eerde AM, Schanstra JP, Decramer S; HNF1B variant study group. Buffin-Meyer B, et al. Among authors: okorn c. Kidney Int Rep. 2024 May 16;9(8):2514-2526. doi: 10.1016/j.ekir.2024.05.007. eCollection 2024 Aug. Kidney Int Rep. 2024. PMID: 39156164 Free PMC article.
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Kołbuc M, Kołek MF, Motyka R, Bieniaś B, Habbig S, Burgmaier K, Prikhodina L, Papizh S, Tasic V, Okorn C, Szczepańska M, Kiliś-Pstrusińska K, Wasilewska A, Adamczyk P, Tkaczyk M, Pańczyk-Tomaszewska M, Miklaszewska M, Pawlaczyk K, Bukowska-Olech E, Jamsheer A, Jankauskiene A, König J, Cheong HI, Ahn YH, Kaspar S, Sikora P, Beck BB, Zaniew M. Kołbuc M, et al. Among authors: okorn c. Pediatr Nephrol. 2024 Jun;39(6):1847-1858. doi: 10.1007/s00467-023-06262-9. Epub 2024 Jan 10. Pediatr Nephrol. 2024. PMID: 38196016 Free PMC article. Clinical Trial.