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Page 1
Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.
Brosens E, Peters NCJ, van Weelden KS, Bendixen C, Brouwer RWW, Sleutels F, Bruggenwirth HT, van Ijcken WFJ, Veenma DCM, Otter SCMC, Wijnen RMH, Eggink AJ, van Dooren MF, Reutter HM, Rottier RJ, Schnater JM, Tibboel D, de Klein A. Brosens E, et al. Among authors: tibboel d. Front Pediatr. 2022 Feb 3;9:800915. doi: 10.3389/fped.2021.800915. eCollection 2021. Front Pediatr. 2022. PMID: 35186825 Free PMC article. Review.
Congenital diaphragmatic hernia and situs inversus totalis.
Tesselaar CD, Postema RR, van Dooren MF, Allegaert K, Tibboel D. Tesselaar CD, et al. Among authors: tibboel d. Pediatrics. 2004 Mar;113(3 Pt 1):e256-8. doi: 10.1542/peds.113.3.e256. Pediatrics. 2004. PMID: 14993585 Free article. No abstract available.
Distal angiogenesis: a new concept for lung vascular morphogenesis.
Parera MC, van Dooren M, van Kempen M, de Krijger R, Grosveld F, Tibboel D, Rottier R. Parera MC, et al. Among authors: tibboel d. Am J Physiol Lung Cell Mol Physiol. 2005 Jan;288(1):L141-9. doi: 10.1152/ajplung.00148.2004. Epub 2004 Sep 17. Am J Physiol Lung Cell Mol Physiol. 2005. PMID: 15377499 Free article.
Linking animal models to human congenital diaphragmatic hernia.
Beurskens N, Klaassens M, Rottier R, de Klein A, Tibboel D. Beurskens N, et al. Among authors: tibboel d. Birth Defects Res A Clin Mol Teratol. 2007 Aug;79(8):565-72. doi: 10.1002/bdra.20370. Birth Defects Res A Clin Mol Teratol. 2007. PMID: 17469205 Review.
Expression of hypoxia-inducible factors in normal human lung development.
Rajatapiti P, van der Horst IW, de Rooij JD, Tran MG, Maxwell PH, Tibboel D, Rottier R, de Krijger RR. Rajatapiti P, et al. Among authors: tibboel d. Pediatr Dev Pathol. 2008 May-Jun;11(3):193-9. doi: 10.2350/07-04-0257.1. Epub 2007 Jul 2. Pediatr Dev Pathol. 2008. PMID: 17990921
5q11.2 deletion in a patient with tracheal agenesis.
de Jong EM, Douben H, Eussen BH, Felix JF, Wessels MW, Poddighe PJ, Nikkels PG, de Krijger RR, Tibboel D, de Klein A. de Jong EM, et al. Among authors: tibboel d. Eur J Hum Genet. 2010 Nov;18(11):1265-8. doi: 10.1038/ejhg.2010.84. Epub 2010 Jun 16. Eur J Hum Genet. 2010. PMID: 20551993 Free PMC article.
Genetics.
de Klein A, Tibboel D. de Klein A, et al. Among authors: tibboel d. Semin Pediatr Surg. 2010 Aug;19(3):234-9. doi: 10.1053/j.sempedsurg.2010.03.008. Semin Pediatr Surg. 2010. PMID: 20610197 Review.
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat JJ, Hanchard N, Shchelochkov OA, Fernandes CJ, Johnson A, Lally KP, Slavotinek A, Danhaive O, Schaible T, Cheung SW, Rauen KA, Tonk VS, Tibboel D, de Klein A, Scott DA. Wat MJ, et al. Among authors: tibboel d. J Med Genet. 2011 May;48(5):299-307. doi: 10.1136/jmg.2011.089680. J Med Genet. 2011. PMID: 21525063 Free PMC article.
The VICI-trial: high frequency oscillation versus conventional mechanical ventilation in newborns with congenital diaphragmatic hernia: an international multicentre randomized controlled trial.
van den Hout L, Tibboel D, Vijfhuize S, te Beest H, Hop W, Reiss I; CDH-EURO Consortium. van den Hout L, et al. Among authors: tibboel d. BMC Pediatr. 2011 Nov 2;11:98. doi: 10.1186/1471-2431-11-98. BMC Pediatr. 2011. PMID: 22047542 Free PMC article. Clinical Trial.
Reversal of pulmonary vascular remodeling in pulmonary hypertensive rats.
Sluiter I, van Heijst A, Haasdijk R, Kempen MB, Boerema-de Munck A, Reiss I, Tibboel D, Rottier RJ. Sluiter I, et al. Among authors: tibboel d. Exp Mol Pathol. 2012 Aug;93(1):66-73. doi: 10.1016/j.yexmp.2012.03.010. Epub 2012 Mar 27. Exp Mol Pathol. 2012. PMID: 22472322
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: tibboel d. 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.
Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.
Wat MJ, Beck TF, Hernández-García A, Yu Z, Veenma D, Garcia M, Holder AM, Wat JJ, Chen Y, Mohila CA, Lally KP, Dickinson M, Tibboel D, de Klein A, Lee B, Scott DA. Wat MJ, et al. Among authors: tibboel d. Hum Mol Genet. 2012 Sep 15;21(18):4115-25. doi: 10.1093/hmg/dds241. Epub 2012 Jun 20. Hum Mol Genet. 2012. PMID: 22723016 Free PMC article.
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Szafranski P, Dharmadhikari AV, Brosens E, Gurha P, Kolodziejska KE, Zhishuo O, Dittwald P, Majewski T, Mohan KN, Chen B, Person RE, Tibboel D, de Klein A, Pinner J, Chopra M, Malcolm G, Peters G, Arbuckle S, Guiang SF 3rd, Hustead VA, Jessurun J, Hirsch R, Witte DP, Maystadt I, Sebire N, Fisher R, Langston C, Sen P, Stankiewicz P. Szafranski P, et al. Among authors: tibboel d. Genome Res. 2013 Jan;23(1):23-33. doi: 10.1101/gr.141887.112. Epub 2012 Oct 3. Genome Res. 2013. PMID: 23034409 Free PMC article.
Congenital diaphragmatic hernia.
Wijnen R, Tibboel D. Wijnen R, et al. Among authors: tibboel d. Eur J Pediatr Surg. 2012 Oct;22(5):343. doi: 10.1055/s-0032-1329608. Epub 2012 Oct 31. Eur J Pediatr Surg. 2012. PMID: 23114974 No abstract available.
Clinical geneticists' views of VACTERL/VATER association.
Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D, Reutter H, Giampietro PF. Solomon BD, et al. Among authors: tibboel d. Am J Med Genet A. 2012 Dec;158A(12):3087-100. doi: 10.1002/ajmg.a.35638. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23165726 Free PMC article. Review.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA. Beck TF, et al. Among authors: tibboel d. Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5. Hum Mol Genet. 2013. PMID: 23221805 Free PMC article.
984 results