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Page 1
CNV analysis in 169 patients with bladder exstrophy-epispadias complex.
von Lowtzow C, Hofmann A, Zhang R, Marsch F, Ebert AK, Rösch W, Stein R, Boemers TM, Hirsch K, Marcelis C, Feitz WF, Brusco A, Migone N, Di Grazia M, Moebus S, Nöthen MM, Reutter H, Ludwig M, Draaken M. von Lowtzow C, et al. Among authors: draaken m. BMC Med Genet. 2016 Apr 30;17(1):35. doi: 10.1186/s12881-016-0299-x. BMC Med Genet. 2016. PMID: 27138190 Free PMC article.
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.
Reutter H, Boyadjiev SA, Gambhir L, Ebert AK, Rösch WH, Stein R, Schröder A, Boemers TM, Bartels E, Vogt H, Utsch B, Müller M, Detlefsen B, Zwink N, Rogenhofer S, Gobet R, Beckers GM, Bökenkamp A, Kajbafzadeh AM, Jaureguizar E, Draaken M, Lakshmanan Y, Gearhart JP, Ludwig M, Nöthen MM, Jenetzky E. Reutter H, et al. Among authors: draaken m. J Pediatr. 2011 Nov;159(5):825-831.e1. doi: 10.1016/j.jpeds.2011.04.042. Epub 2011 Jun 16. J Pediatr. 2011. PMID: 21679965 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. 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
Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region.
Draaken M, Baudisch F, Timmermann B, Kuhl H, Kerick M, Proske J, Wittler L, Pennimpede T, Ebert AK, Rösch W, Stein R, Bartels E, von Lowtzow C, Boemers TM, Herms S, Gearhart JP, Lakshmanan Y, Kockum CC, Holmdahl G, Läckgren G, Nordenskjöld A, Boyadjiev SA, Herrmann BG, Nöthen MM, Ludwig M, Reutter H. Draaken M, et al. Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):512-7. doi: 10.1002/bdra.23249. Epub 2014 Apr 25. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24764164
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
Reutter H, Draaken M, Pennimpede T, Wittler L, Brockschmidt FF, Ebert AK, Bartels E, Rösch W, Boemers TM, Hirsch K, Schmiedeke E, Meesters C, Becker T, Stein R, Utsch B, Mangold E, Nordenskjöld A, Barker G, Kockum CC, Zwink N, Holmdahl G, Läckgren G, Jenetzky E, Feitz WF, Marcelis C, Wijers CH, Van Rooij IA, Gearhart JP, Herrmann BG, Ludwig M, Boyadjiev SA, Nöthen MM, Mattheisen M. Reutter H, et al. Among authors: draaken m. Hum Mol Genet. 2014 Oct 15;23(20):5536-44. doi: 10.1093/hmg/ddu259. Epub 2014 May 22. Hum Mol Genet. 2014. PMID: 24852367 Free PMC article.
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.
Draaken M, Knapp M, Pennimpede T, Schmidt JM, Ebert AK, Rösch W, Stein R, Utsch B, Hirsch K, Boemers TM, Mangold E, Heilmann S, Ludwig KU, Jenetzky E, Zwink N, Moebus S, Herrmann BG, Mattheisen M, Nöthen MM, Ludwig M, Reutter H. Draaken M, et al. PLoS Genet. 2015 Mar 12;11(3):e1005024. doi: 10.1371/journal.pgen.1005024. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25763902 Free PMC article.
Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family.
Reutter H, Rüschendorf F, Mattheisen M, Draaken M, Bartels E, Hübner N, Hoffmann P, Payabvash S, Saar K, Nöthen MM, Kajbafzadeh AM, Ludwig M. Reutter H, et al. Among authors: draaken m. Birth Defects Res A Clin Mol Teratol. 2010 Sep;88(9):757-61. doi: 10.1002/bdra.20701. Birth Defects Res A Clin Mol Teratol. 2010. PMID: 20672349
De novo microduplication at 22q11.21 in a patient with VACTERL association.
Schramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nöthen MM, Ludwig M, Reutter H. Schramm C, et al. Among authors: draaken m. Eur J Med Genet. 2011 Jan-Feb;54(1):9-13. doi: 10.1016/j.ejmg.2010.09.001. Epub 2010 Sep 16. Eur J Med Genet. 2011. PMID: 20849991
39 results