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39 results

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Page 1
De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.
Schramm C, Draaken M, Bartels E, Boemers TM, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Hosie S, Holland-Cunz S, Baudisch F, Priebe L, Hoffmann P, Zink AM, Engels H, Brockschmidt FF, Aretz S, Nöthen MM, Ludwig M, Reutter H. Schramm C, et al. Among authors: marzheuser s. Am J Med Genet A. 2011 Feb;155A(2):445-9. doi: 10.1002/ajmg.a.33820. Epub 2011 Jan 13. Am J Med Genet A. 2011. PMID: 21271671 No abstract available.
Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.
Wijers CH, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, Gamba P, Clementi M, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Märzheuser S, Schmiedeke E, Crétolle C, Sarnacki S, Levitt MA, Knoers NV, Roeleveld N, van Rooij IA. Wijers CH, et al. Among authors: marzheuser s. Pediatr Surg Int. 2010 Nov;26(11):1093-9. doi: 10.1007/s00383-010-2688-0. Pediatr Surg Int. 2010. PMID: 20730541 Free PMC 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: marzheuser 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.
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: marzheuser 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.
Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study.
Zwink N, Jenetzky E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Weih S, Hosie S, Reifferscheid P, Ameis H, Kujath C, Rissmann A, Obermayr F, Schwarzer N, Bartels E, Reutter H, Brenner H; CURE-Net Consortium. Zwink N, et al. Among authors: marzheuser s. Orphanet J Rare Dis. 2012 Sep 15;7:65. doi: 10.1186/1750-1172-7-65. Orphanet J Rare Dis. 2012. PMID: 22978793 Free PMC article.
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: marzheuser 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
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.
Hilger A, Schramm C, Pennimpede T, Wittler L, Dworschak GC, Bartels E, Engels H, Zink AM, Degenhardt F, Müller AM, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Hosie S, Holland-Cunz S, Wijers CH, Marcelis CL, van Rooij IA, Hildebrandt F, Herrmann BG, Nöthen MM, Ludwig M, Reutter H, Draaken M. Hilger A, et al. Among authors: marzheuser s. Eur J Hum Genet. 2013 Dec;21(12):1377-82. doi: 10.1038/ejhg.2013.58. Epub 2013 Apr 3. Eur J Hum Genet. 2013. PMID: 23549274 Free PMC article.
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.
Dworschak GC, Draaken M, Marcelis C, de Blaauw I, Pfundt R, van Rooij IA, Bartels E, Hilger A, Jenetzky E, 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, Zwink N, Ludwig M, Reutter H. Dworschak GC, et al. Among authors: marzheuser s. Am J Med Genet A. 2013 Dec;161A(12):3035-41. doi: 10.1002/ajmg.a.36153. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24038947
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: marzheuser 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: marzheuser 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
39 results