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106 results

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Page 1
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Mingardo E, Beaman G, Grote P, Nordenskjöld A, Newman W, Woolf AS, Eckstein M, Hilger AC, Dworschak GC, Rösch W, Ebert AK, Stein R, Brusco A, Di Grazia M, Tamer A, Torres FM, Hernandez JL, Erben P, Maj C, Olmos JM, Riancho JA, Valero C, Hostettler IC, Houlden H, Werring DJ, Schumacher J, Gehlen J, Giel AS, Buerfent BC, Arkani S, Åkesson E, Rotstein E, Ludwig M, Holmdahl G, Giorgio E, Berettini A, Keene D, Cervellione RM, Younsi N, Ortlieb M, Oswald J, Haid B, Promm M, Neissner C, Hirsch K, Stehr M, Schäfer FM, Schmiedeke E, Boemers TM, van Rooij IALM, Feitz WFJ, Marcelis CLM, Lacher M, Nelson J, Ure B, Fortmann C, Gale DP, Chan MMY, Ludwig KU, Nöthen MM, Heilmann S, Zwink N, Jenetzky E, Odermatt B, Knapp M, Reutter H. Mingardo E, et al. Among authors: van rooij ialm. Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3. Commun Biol. 2022. PMID: 36352089 Free PMC article.
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. 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.
Bias in patient series with VACTERL association.
Jenetzky E, Wijers CH, Marcelis CM, Zwink N, Reutter H, van Rooij IA. Jenetzky E, et al. Am J Med Genet A. 2011 Aug;155A(8):2039-41; author reply 2042-3. doi: 10.1002/ajmg.a.33983. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739573 No abstract available.
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: van rooij ialm. Clin Dysmorphol. 2012 Oct;21(4):191-195. doi: 10.1097/MCD.0b013e328358243c. Clin Dysmorphol. 2012. PMID: 22895008 Free PMC article. Review.
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. 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. 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. 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.
No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.
Wijers CH, de Blaauw I, Zwink N, Draaken M, van der Zanden LF, Brunner HG, Brooks AS, Hofstra RM, Sloots CE, Broens PM, Wijnen MH, Ludwig M, Jenetzky E, Reutter H, Marcelis CL, Roeleveld N, van Rooij IA. Wijers CH, et al. Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):483-92. doi: 10.1002/bdra.23256. Epub 2014 May 20. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24841934
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. 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.
106 results