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Page 1
Maternal risk associated with the VACTERL association: A case-control study.
van de Putte R, de Walle HEK, van Hooijdonk KJM, de Blaauw I, Marcelis CLM, van Heijst A, Giltay JC, Renkema KY, Broens PMA, Brosens E, Sloots CEJ, Bergman JEH, Roeleveld N, van Rooij IALM. van de Putte R, et al. Among authors: brosens e. Birth Defects Res. 2020 Nov;112(18):1495-1504. doi: 10.1002/bdr2.1773. Epub 2020 Jul 22. Birth Defects Res. 2020. PMID: 33179873 Free PMC article.
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.
Hernández-García A, Brosens E, Zaveri HP, de Jong EM, Yu Z, Namwanje M, Mayle A, Fernandes CJ, Lee B, Blazo M, Lalani SR, Tibboel D, de Klein A, Scott DA. Hernández-García A, et al. Among authors: brosens e. Am J Med Genet A. 2012 Jul;158A(7):1785-7. doi: 10.1002/ajmg.a.35391. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639458 No abstract available.
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: brosens e. 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.
Structural and numerical changes of chromosome X in patients with esophageal atresia.
Brosens E, de Jong EM, Barakat TS, Eussen BH, D'haene B, De Baere E, Verdin H, Poddighe PJ, Galjaard RJ, Gribnau J, Brooks AS, Tibboel D, de Klein A. Brosens E, et al. Eur J Hum Genet. 2014 Sep;22(9):1077-84. doi: 10.1038/ejhg.2013.295. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398799 Free PMC article.
More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation.
Bagci S, Brosens E, Tibboel D, De Klein A, Ijsselstijn H, Wijers CH, Roeleveld N, de Blaauw I, Broens PM, van Rooij IA, Hölscher A, Boemers TM, Pauly M, Münsterer OJ, Schmiedeke E, Schäfer M, Ure BE, Lacher M, Choinitzki V, Schumacher J, Zwink N, Jenetzky E, Katzer D, Arand J, Bartmann P, Reutter HM. Bagci S, et al. Among authors: brosens e. Eur J Pediatr. 2016 Jun;175(6):825-31. doi: 10.1007/s00431-016-2713-y. Epub 2016 Mar 16. Eur J Pediatr. 2016. PMID: 26979529
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.
van de Putte R, Wijers CHW, Reutter H, Vermeulen SH, Marcelis CLM, Brosens E, Broens PMA, Homberg M, Ludwig M, Jenetzky E, Zwink N, Sloots CEJ, de Klein A, Brooks AS, Hofstra RMW, Holsink SAC, van der Zanden LFM, Galesloot TE, Tam PK, Steehouwer M, Acuna-Hidalgo R, Vorst MV, Kiemeney LA, Garcia-Barceló MM, de Blaauw I, Brunner HG, Roeleveld N, van Rooij IALM. van de Putte R, et al. Among authors: brosens e. PLoS One. 2019 May 28;14(5):e0217477. doi: 10.1371/journal.pone.0217477. eCollection 2019. PLoS One. 2019. PMID: 31136621 Free PMC article. Clinical Trial.
Infantile hypertrophic pyloric stenosis in patients with esophageal atresia.
Ten Kate CA, Brouwer RWW, van Bever Y, Martens VK, Brands T, van Beelen NWG, Brooks AS, Huigh D, van der Helm RM, Eussen BHFMM, van IJcken WFJ, IJsselstijn H, Tibboel D, Wijnen RMH, de Klein A, Hofstra RMW, Brosens E. Ten Kate CA, et al. Among authors: brosens e. Birth Defects Res. 2020 May 15;112(9):670-687. doi: 10.1002/bdr2.1683. Epub 2020 Apr 16. Birth Defects Res. 2020. PMID: 32298054
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna-Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Märzheuser S, Schwarzer N, Brooks AS, de Klein A, Sloots CEJ, Tibboel D, Brisighelli G, Morandi A, Bedeschi MF, Bates MD, Levitt MA, Peña A, de Blaauw I, Roeleveld N, Brunner HG, van Rooij IALM, Hoischen A. van de Putte R, et al. Among authors: brosens e. Front Pediatr. 2020 Jun 23;8:310. doi: 10.3389/fped.2020.00310. eCollection 2020. Front Pediatr. 2020. PMID: 32656166 Free PMC article.
78 results