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Genome-wide association study in patients with posterior urethral valves.
van der Zanden LFM, Maj C, Borisov O, van Rooij IALM, Quaedackers JSLT, Steffens M, Schierbaum L, Schneider S, Waffenschmidt L, Kiemeney LALM, de Wall LLL, Heilmann S, Hofmann A, Gehlen J, Schumacher J, Szczepanska M, Taranta-Janusz K, Kroll P, Krzemien G, Szmigielska A, Schreuder MF, Weber S, Zaniew M, Roeleveld N, Reutter H, Feitz WFJ, Hilger AC. van der Zanden LFM, et al. Among authors: reutter h. Front Pediatr. 2022 Sep 27;10:988374. doi: 10.3389/fped.2022.988374. eCollection 2022. Front Pediatr. 2022. PMID: 36238604 Free PMC article.
SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in Central European patients.
de Assis NA, Nowak S, Ludwig KU, Reutter H, Vollmer J, Heilmann S, Kluck N, Lauster C, Braumann B, Reich RH, Hemprich A, Knapp M, Wienker TF, Kramer FJ, Hoffmann P, Nöthen MM, Mangold E. de Assis NA, et al. Among authors: reutter h. Int J Pediatr Otorhinolaryngol. 2011 Jan;75(1):49-52. doi: 10.1016/j.ijporl.2010.10.005. Epub 2010 Nov 1. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21044801
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: reutter h. 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.
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: reutter hm. Clin Dysmorphol. 2012 Oct;21(4):191-195. doi: 10.1097/MCD.0b013e328358243c. Clin Dysmorphol. 2012. PMID: 22895008 Free PMC article. 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: reutter h. 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
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: reutter h. 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: reutter h. 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: reutter hm. 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.
255 results