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423 results

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Page 1
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. 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.
Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.
Draaken M, Reutter H, Schramm C, Bartels E, Boemers TM, Ebert AK, Rösch W, Schröder A, Stein R, Moebus S, Stienen D, Hoffmann P, Nöthen MM, Ludwig M. Draaken M, et al. Among authors: bartels e. Eur J Med Genet. 2010 Mar-Apr;53(2):55-60. doi: 10.1016/j.ejmg.2009.12.005. Epub 2010 Jan 10. Eur J Med Genet. 2010. PMID: 20060941
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: bartels e. 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
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. Among authors: bartels e. 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.
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: bartels e. 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
Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.
Schramm C, Draaken M, Tewes G, Bartels E, Schmiedeke E, Märzheuser S, Grasshoff-Derr S, Hosie S, Holland-Cunz S, Priebe L, Kreiss-Nachtsheim M, Hoffmann P, Aretz S, Nöthen MM, Reutter H, Ludwig M. Schramm C, et al. Among authors: bartels e. Eur J Pediatr. 2011 Jun;170(6):741-6. doi: 10.1007/s00431-010-1332-2. Epub 2010 Nov 2. Eur J Pediatr. 2011. PMID: 21042811 Review.
De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.
Schramm C, Draaken M, Bartels E, Boemers TM, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Hosie S, Holland-Cunz S, Baudisch F, Priebe L, Hoffmann P, Zink AM, Engels H, Brockschmidt FF, Aretz S, Nöthen MM, Ludwig M, Reutter H. Schramm C, et al. Among authors: bartels e. Am J Med Genet A. 2011 Feb;155A(2):445-9. doi: 10.1002/ajmg.a.33820. Epub 2011 Jan 13. Am J Med Genet A. 2011. PMID: 21271671 No abstract available.
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: bartels e. 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.
423 results