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2008 1
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Page 1
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. Among authors: schmiedeke e. 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.
The Challenges of the European Anorectal Malformations-Net Registry.
Jenetzky E, van Rooij IA, Aminoff D, Schwarzer N, Reutter H, Schmiedeke E, Midrio P, de Blaauw I. Jenetzky E, et al. Among authors: schmiedeke e. Eur J Pediatr Surg. 2015 Dec;25(6):481-7. doi: 10.1055/s-0035-1569149. Epub 2015 Dec 7. Eur J Pediatr Surg. 2015. PMID: 26642384 Review.
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.
Fabian J, Dworschak GC, Waffenschmidt L, Schierbaum L, Bendixen C, Heilmann-Heimbach S, Sivalingam S, Buness A, Schwarzer N, Boemers TM, Schmiedeke E, Neser J, Leonhardt J, Kosch F, Weih S, Gielen HM, Hosie S, Kabs C, Palta M, Märzheuser S, Bode LM, Lacher M, Schäfer FM, Stehr M, Knorr C, Ure B, Kleine K, Rolle U, Zaniew M, Phillip G, Zwink N, Jenetzky E, Reutter H, Hilger AC. Fabian J, et al. Among authors: schmiedeke e. Eur J Hum Genet. 2023 Jan;31(1):105-111. doi: 10.1038/s41431-022-01216-5. Epub 2022 Nov 1. Eur J Hum Genet. 2023. PMID: 36319675 Free PMC article.
ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part I: Diagnostics.
Aubert O, Irvine WFE, Aminoff D, de Blaauw I, Cascio S, Cretolle C, Iacobelli BD, Mantzios K, Midrio P, Miserez M, Sarnacki S, Schmiedeke E, Schwarzer N, Sloots C, Stenström P, Lacher M, Gosemann JH. Aubert O, et al. Among authors: schmiedeke e. Eur J Pediatr Surg. 2024 Oct 11. doi: 10.1055/s-0044-1791250. Online ahead of print. Eur J Pediatr Surg. 2024. PMID: 39393414
European Reference Network eUROGEN Guidelines on the Management of Anorectal Malformations, Part II: Treatment.
Aubert O, Irvine WFE, Aminoff D, de Blaauw I, Cascio S, Cretolle C, Iacobelli BD, Mantzios K, Midrio P, Miserez M, Sarnacki S, Schmiedeke E, Schwarzer N, Sloots C, Stenström P, Lacher M, Gosemann JH. Aubert O, et al. Among authors: schmiedeke e. Eur J Pediatr Surg. 2024 Sep 19. doi: 10.1055/s-0044-1791257. Online ahead of print. Eur J Pediatr Surg. 2024. PMID: 39299249
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Köllges R, Stegmann J, Schneider S, Waffenschmidt L, Fazaal J, Breuer K, Hilger AC, Dworschak GC, Mingardo E, Rösch W, Hofmann A, Neissner C, Ebert AK, Stein R, Younsi N, Hirsch-Koch K, Schmiedeke E, Zwink N, Jenetzky E, Thiele H, Ludwig KU, Reutter H. Köllges R, et al. Among authors: schmiedeke e. Biomolecules. 2023 Jul 13;13(7):1117. doi: 10.3390/biom13071117. Biomolecules. 2023. PMID: 37509153 Free PMC article.
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Kolvenbach CM, van der Ven AT, Kause F, Shril S, Scala M, Connaughton DM, Mann N, Nakayama M, Dai R, Kitzler TM, Schneider R, Schierbaum L, Schneider S, Accogli A, Torella A, Piatelli G, Nigro V, Capra V, Hoppe B, Märzheuser S, Schmiedeke E, Rehm HL, Mane S, Lifton RP, Dworschak GC, Hilger AC, Reutter H, Hildebrandt F. Kolvenbach CM, et al. Among authors: schmiedeke e. Am J Med Genet A. 2021 Dec;185(12):3784-3792. doi: 10.1002/ajmg.a.62447. Epub 2021 Aug 2. Am J Med Genet A. 2021. PMID: 34338422 Free PMC article.
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.
Bartels E, Schulz AC, Mora NW, Pineda-Alvarez DE, Wijers CHW, Marcelis CM, Stressig R, Ritgen J, Schmiedeke E, Mattheisen M, Draaken M, Hoffmann P, Hilger AC, Dworschak GC, Baudisch F, Ludwig M, Bagci S, Müller A, Gembruch U, Geipel A, Berg C, Bartmann P, Nöthen MM, van Rooij IALM, Solomon BD, Reutter HM. Bartels E, et al. Among authors: schmiedeke e. Clin Dysmorphol. 2012 Oct;21(4):191-195. doi: 10.1097/MCD.0b013e328358243c. Clin Dysmorphol. 2012. PMID: 22895008 Free PMC article. Review.
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: schmiedeke e. 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.
65 results