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1,338 results

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Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.
Brosens E, Marsch F, de Jong EM, Zaveri HP, Hilger AC, Choinitzki VG, Hölscher A, Hoffmann P, Herms S, Boemers TM, Ure BM, Lacher M, Ludwig M, Eussen BH, van der Helm RM, Douben H, Van Opstal D, Wijnen RM, Beverloo HB, van Bever Y, Brooks AS, IJsselstijn H, Scott DA, Schumacher J, Tibboel D, Reutter H, de Klein A. Brosens E, et al. Among authors: ludwig m. Eur J Hum Genet. 2016 Dec;24(12):1715-1723. doi: 10.1038/ejhg.2016.86. Epub 2016 Jul 20. Eur J Hum Genet. 2016. PMID: 27436264 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.
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
Whole-Exome Sequencing in Nine Monozygotic Discordant Twins.
Zhang R, Thiele H, Bartmann P, Hilger AC, Berg C, Herberg U, Klingmüller D, Nürnberg P, Ludwig M, Reutter H. Zhang R, et al. Among authors: ludwig m. Twin Res Hum Genet. 2016 Feb;19(1):60-5. doi: 10.1017/thg.2015.93. Epub 2015 Dec 18. Twin Res Hum Genet. 2016. PMID: 26681452
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: ludwig 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.
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
1,338 results