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30 results

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Page 1
Trio Exome Sequencing in VACTERL Association.
Ćomić J, Tilch E, Riedhammer KM, Brugger M, Brunet T, Eyring K, Vill K, Redler S, Tasic V, Schmiedeke E, Schäfer FM, Abazi-Emini N, Jenetzky E, Schwarzer N, Widenmann A, Lacher M, Zech M, Grasshoff-Derr S, Geßner M, Kabs C, Seitz B, Heydweiller AC, Muensterer O, Lange-Sperandio B, Rolle U, Schumacher J, Braunisch MC, Berutti R, Reutter H, Hoefele J. Ćomić J, et al. Among authors: grasshoff derr s. Kidney Int Rep. 2024 Dec 9;10(3):877-891. doi: 10.1016/j.ekir.2024.12.006. eCollection 2025 Mar. Kidney Int Rep. 2024. PMID: 40225364 Free PMC article.
Inheritance of the VATER/VACTERL association.
Bartels E, Jenetzky E, Solomon BD, Ludwig M, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rissmann A, Nöthen MM, Reutter H, Zwink N. Bartels E, et al. Among authors: grasshoff derr s. Pediatr Surg Int. 2012 Jul;28(7):681-5. doi: 10.1007/s00383-012-3100-z. Epub 2012 May 12. Pediatr Surg Int. 2012. PMID: 22581124 Free PMC article.
The European Anorectal Malformation Network (ARM-Net) patient registry: 10-year review of clinical and surgical characteristics.
Hageman IC, Midrio P, van der Steeg HJJ, Jenetzky E, Iacobelli BD, Morandi A, Sloots CEJ, Schmiedeke E, Broens PMA, Fascetti Leon F, Çavuşoğlu YH, Gorter RR, Trajanovska M, King SK, Aminoff D, Schwarzer N, Haanen M, de Blaauw I, van Rooij IALM; ARM-Net Consortium. Hageman IC, et al. Br J Surg. 2024 Jan 31;111(2):znae019. doi: 10.1093/bjs/znae019. Br J Surg. 2024. PMID: 38364059 Free PMC article. Review. No abstract available.
European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations.
van der Steeg HJ, Schmiedeke E, Bagolan P, Broens P, Demirogullari B, Garcia-Vazquez A, Grasshoff-Derr S, Lacher M, Leva E, Makedonsky I, Sloots CE, Schwarzer N, Aminoff D, Schipper M, Jenetzky E, van Rooij IA, Giuliani S, Crétolle C, Holland Cunz S, Midrio P, de Blaauw I. van der Steeg HJ, et al. Among authors: grasshoff derr s. Tech Coloproctol. 2015 Mar;19(3):181-5. doi: 10.1007/s10151-015-1267-8. Epub 2015 Jan 22. Tech Coloproctol. 2015. PMID: 25609592 Free PMC article.
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. Nuzhat N, et al. Among authors: grasshoff derr s. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. J Clin Invest. 2023. PMID: 36862503 Free PMC article.
A Quality Assessment of the ARM-Net Registry Design and Data Collection.
Hageman IC, van der Steeg HJJ, Jenetzky E, Trajanovska M, King SK, de Blaauw I, van Rooij IALM; ARM-Net Consortium. Hageman IC, et al. J Pediatr Surg. 2023 Oct;58(10):1921-1928. doi: 10.1016/j.jpedsurg.2023.02.049. Epub 2023 Feb 25. J Pediatr Surg. 2023. PMID: 37045715 Free article.
Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.
Schramm C, Draaken M, Tewes G, Bartels E, Schmiedeke E, Märzheuser S, Grasshoff-Derr S, Hosie S, Holland-Cunz S, Priebe L, Kreiss-Nachtsheim M, Hoffmann P, Aretz S, Nöthen MM, Reutter H, Ludwig M. Schramm C, et al. Among authors: grasshoff derr s. Eur J Pediatr. 2011 Jun;170(6):741-6. doi: 10.1007/s00431-010-1332-2. Epub 2010 Nov 2. Eur J Pediatr. 2011. PMID: 21042811 Review.
Practice of dilatation after surgical correction in anorectal malformations.
Jenetzky E, Reckin S, Schmiedeke E, Schmidt D, Schwarzer N, Grasshoff-Derr S, Zwink N, Bartels E, Rissmann A, Leonhardt J, Weih S, Obermayr F, Rädecke J, Palta M, Kosch F, Götz G, Hofbauer A, Schäfer M, Reutter H, Holland-Cunz S, Märzheuser S. Jenetzky E, et al. Among authors: grasshoff derr s. Pediatr Surg Int. 2012 Nov;28(11):1095-9. doi: 10.1007/s00383-012-3169-4. Epub 2012 Sep 23. Pediatr Surg Int. 2012. PMID: 23001134
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa DS, Stajić N, Bogdanovic R, de Blaauw I, Marcelis CL, Wijers CH, Bartels E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Ludwig M, Nöthen MM, Draaken M, Brosens E, Heij H, Tibboel D, Herrmann BG, Solomon BD, de Klein A, van Rooij IA, Esposito F, Reutter HM, Hildebrandt F. Saisawat P, et al. Among authors: grasshoff derr s. Kidney Int. 2014 Jun;85(6):1310-7. doi: 10.1038/ki.2013.417. Epub 2013 Oct 23. Kidney Int. 2014. PMID: 24152966 Free PMC article.
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
Zeidler C, Woelfle J, Draaken M, Mughal SS, Große G, Hilger AC, Dworschak GC, Boemers TM, Jenetzky E, Zwink N, Lacher M, Schmidt D, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Holland-Cunz S, Schäfer M, Bartels E, Keppler K, Palta M, Leonhardt J, Kujath C, Rißmann A, Nöthen MM, Reutter H, Ludwig M. Zeidler C, et al. Among authors: grasshoff derr s. Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):750-9. doi: 10.1002/bdra.23278. Epub 2014 Aug 8. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 25131394
30 results