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Page 1
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F. Drovandi S, et al. Among authors: schaefer f. Kidney Int. 2022 Sep;102(3):592-603. doi: 10.1016/j.kint.2022.02.040. Epub 2022 Apr 26. Kidney Int. 2022. PMID: 35483523 Free article.
The bone and mineral disorder of children undergoing chronic peritoneal dialysis.
Borzych D, Rees L, Ha IS, Chua A, Valles PG, Lipka M, Zambrano P, Ahlenstiel T, Bakkaloglu SA, Spizzirri AP, Lopez L, Ozaltin F, Printza N, Hari P, Klaus G, Bak M, Vogel A, Ariceta G, Yap HK, Warady BA, Schaefer F; International Pediatric PD Network (IPPN). Borzych D, et al. Among authors: schaefer f. Kidney Int. 2010 Dec;78(12):1295-304. doi: 10.1038/ki.2010.316. Epub 2010 Sep 1. Kidney Int. 2010. PMID: 20811335 Free article.
Disruption of PTPRO causes childhood-onset nephrotic syndrome.
Ozaltin F, Ibsirlioglu T, Taskiran EZ, Baydar DE, Kaymaz F, Buyukcelik M, Kilic BD, Balat A, Iatropoulos P, Asan E, Akarsu NA, Schaefer F, Yilmaz E, Bakkaloglu A; PodoNet Consortium. Ozaltin F, et al. Among authors: schaefer f. Am J Hum Genet. 2011 Jul 15;89(1):139-47. doi: 10.1016/j.ajhg.2011.05.026. Epub 2011 Jun 30. Am J Hum Genet. 2011. PMID: 21722858 Free PMC article.
Timing and outcome of renal replacement therapy in patients with congenital malformations of the kidney and urinary tract.
Wühl E, van Stralen KJ, Verrina E, Bjerre A, Wanner C, Heaf JG, Zurriaga O, Hoitsma A, Niaudet P, Palsson R, Ravani P, Jager KJ, Schaefer F. Wühl E, et al. Among authors: schaefer f. Clin J Am Soc Nephrol. 2013 Jan;8(1):67-74. doi: 10.2215/CJN.03310412. Epub 2012 Oct 18. Clin J Am Soc Nephrol. 2013. PMID: 23085722 Free PMC article.
Animal models of nephrotic syndrome.
Simic I, Tabatabaeifar M, Schaefer F. Simic I, et al. Among authors: schaefer f. Pediatr Nephrol. 2013 Nov;28(11):2079-88. doi: 10.1007/s00467-012-2376-5. Epub 2012 Dec 19. Pediatr Nephrol. 2013. PMID: 23250714 Review.
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
Lipska BS, Iatropoulos P, Maranta R, Caridi G, Ozaltin F, Anarat A, Balat A, Gellermann J, Trautmann A, Erdogan O, Saeed B, Emre S, Bogdanovic R, Azocar M, Balasz-Chmielewska I, Benetti E, Caliskan S, Mir S, Melk A, Ertan P, Baskin E, Jardim H, Davitaia T, Wasilewska A, Drozdz D, Szczepanska M, Jankauskiene A, Higuita LM, Ardissino G, Ozkaya O, Kuzma-Mroczkowska E, Soylemezoglu O, Ranchin B, Medynska A, Tkaczyk M, Peco-Antic A, Akil I, Jarmolinski T, Firszt-Adamczyk A, Dusek J, Simonetti GD, Gok F, Gheissari A, Emma F, Krmar RT, Fischbach M, Printza N, Simkova E, Mele C, Ghiggeri GM, Schaefer F; PodoNet Consortium. Lipska BS, et al. Among authors: schaefer f. Kidney Int. 2013 Jul;84(1):206-13. doi: 10.1038/ki.2013.93. Epub 2013 Mar 20. Kidney Int. 2013. PMID: 23515051 Free article.
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.
Lipska BS, Balasz-Chmielewska I, Morzuch L, Wasielewski K, Vetter D, Borzecka H, Drozdz D, Firszt-Adamczyk A, Gacka E, Jarmolinski T, Ksiazek J, Kuzma-Mroczkowska E, Litwin M, Medynska A, Silska M, Szczepanska M, Tkaczyk M, Wasilewska A, Schaefer F, Zurowska A, Limon J. Lipska BS, et al. Among authors: schaefer f. J Appl Genet. 2013 Aug;54(3):327-33. doi: 10.1007/s13353-013-0147-z. Epub 2013 May 5. J Appl Genet. 2013. PMID: 23645318 Free PMC article.
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Bouchireb K, Boyer O, Gribouval O, Nevo F, Huynh-Cong E, Morinière V, Campait R, Ars E, Brackman D, Dantal J, Eckart P, Gigante M, Lipska BS, Liutkus A, Megarbane A, Mohsin N, Ozaltin F, Saleem MA, Schaefer F, Soulami K, Torra R, Garcelon N, Mollet G, Dahan K, Antignac C. Bouchireb K, et al. Among authors: schaefer f. Hum Mutat. 2014 Feb;35(2):178-86. doi: 10.1002/humu.22485. Epub 2013 Dec 9. Hum Mutat. 2014. PMID: 24227627 Review.
Genotype-phenotype associations in WT1 glomerulopathy.
Lipska BS, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F, Caridi G, Seeman T, Tory K, Jankauskiene A, Zurowska A, Szczepanska M, Wasilewska A, Harambat J, Trautmann A, Peco-Antic A, Borzecka H, Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F; PodoNet Consortium. Lipska BS, et al. Among authors: schaefer f. Kidney Int. 2014 May;85(5):1169-78. doi: 10.1038/ki.2013.519. Epub 2014 Jan 8. Kidney Int. 2014. PMID: 24402088 Free article.
Survival and clinical outcomes of children starting renal replacement therapy in the neonatal period.
van Stralen KJ, Borzych-Dużalka D, Hataya H, Kennedy SE, Jager KJ, Verrina E, Inward C, Rönnholm K, Vondrak K, Warady BA, Zurowska AM, Schaefer F, Cochat P; ESPN/ERA-EDTA registry; IPPN registry; ANZDATA registry; Japanese RRT registry. van Stralen KJ, et al. Among authors: schaefer f. Kidney Int. 2014 Jul;86(1):168-74. doi: 10.1038/ki.2013.561. Epub 2014 Feb 5. Kidney Int. 2014. PMID: 24499775 Free article.
782 results