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Page 1
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.
Zhang R, Marsch F, Kause F, Degenhardt F, Schmiedeke E, Märzheuser S, Hoppe B, Bachour H, Boemers TM, Schäfer M, Spychalski N, Neser J, Leonhardt J, Kosch F, Ure B, Gómez B, Lacher M, Deffaa OJ, Palta M, Wittekindt B, Kleine K, Schmedding A, Grasshoff-Derr S, Ven AV, Heilmann-Heimbach S, Zwink N, Jenetzky E, Ludwig M, Reutter H. Zhang R, et al. Among authors: ludwig m. Birth Defects Res. 2017 Jul 17;109(13):1063-1069. doi: 10.1002/bdr2.1042. Epub 2017 Jun 12. Birth Defects Res. 2017. PMID: 28605140
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: ludwig m. 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.
Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.
Draaken M, Mughal SS, Pennimpede T, Wolter S, Wittler L, Ebert AK, Rösch W, Stein R, Bartels E, Schmidt D, Boemers TM, Schmiedeke E, Hoffmann P, Moebus S, Herrmann BG, Nöthen MM, Reutter H, Ludwig M. Draaken M, et al. Among authors: ludwig m. Birth Defects Res A Clin Mol Teratol. 2013 Mar;97(3):133-9. doi: 10.1002/bdra.23112. Epub 2013 Jan 29. Birth Defects Res A Clin Mol Teratol. 2013. PMID: 23359465
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: ludwig m. 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: ludwig m. 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
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: ludwig m. 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
Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities.
Dworschak GC, Draaken M, Hilger AC, Schramm C, Bartels E, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Holland-Cunz S, Lacher M, Jenetzky E, Zwink N, Schmidt D, Nöthen MM, Ludwig M, Reutter H. Dworschak GC, et al. Among authors: ludwig m. Birth Defects Res A Clin Mol Teratol. 2015 Apr;103(4):235-42. doi: 10.1002/bdra.23321. Epub 2014 Sep 24. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 25250690
Familial occurrence of the VATER/VACTERL association.
Hilger A, Schramm C, Draaken M, Mughal SS, Dworschak G, Bartels E, Hoffmann P, Nöthen MM, Reutter H, Ludwig M. Hilger A, et al. Among authors: ludwig m. Pediatr Surg Int. 2012 Jul;28(7):725-9. doi: 10.1007/s00383-012-3073-y. Epub 2012 Mar 16. Pediatr Surg Int. 2012. PMID: 22422375 Review.
Involvement of the WNT and FGF signaling pathways in non-isolated anorectal malformations: sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene.
Draaken M, Prins W, Zeidler C, Hilger A, Mughal SS, Latus J, Boemers TM, Schmidt D, Schmiedeke E, Spychalski N, Bartels E, Nöthen MM, Reutter H, Ludwig M. Draaken M, et al. Among authors: ludwig m. Int J Mol Med. 2012 Dec;30(6):1459-64. doi: 10.3892/ijmm.2012.1124. Epub 2012 Sep 7. Int J Mol Med. 2012. PMID: 22961180
1,338 results