van Bever Y - Search Results

1

Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review.

Van Zutven LJ, van Bever Y, Van Nieuwland CC, Huijbregts GC, Van Opstal D, von Bergh AR, Corel LJ, Tibboel D, Wouters CH, Poddighe PJ. Van Zutven LJ, et al. Among authors: van nieuwland cc, van bever y, van opstal d. Am J Med Genet A. 2009 Jul;149A(7):1468-75. doi: 10.1002/ajmg.a.32714. Am J Med Genet A. 2009. PMID: 19449434 Review.

2

Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations.

Madan K, Nieuwint AW, van Bever Y. Madan K, et al. Among authors: van bever y. Hum Genet. 1997 Jun;99(6):806-15. doi: 10.1007/s004390050453. Hum Genet. 1997. PMID: 9187678 Review.

3

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF. van Bever Y, et al. Among authors: van luijk r. Am J Med Genet A. 2005 May 15;135(1):91-5. doi: 10.1002/ajmg.a.30695. Am J Med Genet A. 2005. PMID: 15822126 Review.

4

Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature.

van Bever Y, van Hest L, Wolfs R, Tibboel D, van den Hoonaard TL, Gischler SJ. van Bever Y, et al. Among authors: van den hoonaard tl, van hest l. Am J Med Genet A. 2008 Feb 15;146A(4):500-4. doi: 10.1002/ajmg.a.32169. Am J Med Genet A. 2008. PMID: 18203155 Review.

5

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.

Knijnenburg J, van Bever Y, Hulsman LO, van Kempen CA, Bolman GM, van Loon RL, Beverloo HB, van Zutven LJ. Knijnenburg J, et al. Among authors: van zutven lj, van bever y, van kempen ca, van loon rl. Eur J Hum Genet. 2012 Sep;20(9):986-9. doi: 10.1038/ejhg.2012.43. Epub 2012 Mar 7. Eur J Hum Genet. 2012. PMID: 22395867 Free PMC article.

6

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: van bever y. 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.

7

VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.

Brosens E, Eussen H, van Bever Y, van der Helm RM, Ijsselstijn H, Zaveri HP, Wijnen R, Scott DA, Tibboel D, de Klein A. Brosens E, et al. Among authors: van der helm rm, van bever y. Mol Syndromol. 2013 Feb;4(1-2):20-6. doi: 10.1159/000345577. Mol Syndromol. 2013. PMID: 23653573 Free PMC article.

8

Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.

Brosens E, Ploeg M, van Bever Y, Koopmans AE, IJsselstijn H, Rottier RJ, Wijnen R, Tibboel D, de Klein A. Brosens E, et al. Among authors: van bever y. Eur J Med Genet. 2014 Aug;57(8):440-52. doi: 10.1016/j.ejmg.2014.05.009. Epub 2014 Jun 13. Eur J Med Genet. 2014. PMID: 24931924 Review.

9

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM. Halim D, et al. Among authors: van der werf cs, van ijcken wf, van bever y. Hum Mol Genet. 2016 Feb 1;25(3):571-83. doi: 10.1093/hmg/ddv497. Epub 2015 Dec 8. Hum Mol Genet. 2016. PMID: 26647307

10

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.

Brosens E, Marsch F, de Jong EM, Zaveri HP, Hilger AC, Choinitzki VG, Hölscher A, Hoffmann P, Herms S, Boemers TM, Ure BM, Lacher M, Ludwig M, Eussen BH, van der Helm RM, Douben H, Van Opstal D, Wijnen RM, Beverloo HB, van Bever Y, Brooks AS, IJsselstijn H, Scott DA, Schumacher J, Tibboel D, Reutter H, de Klein A. Brosens E, et al. Among authors: van der helm rm, van bever y, van opstal d. Eur J Hum Genet. 2016 Dec;24(12):1715-1723. doi: 10.1038/ejhg.2016.86. Epub 2016 Jul 20. Eur J Hum Genet. 2016. PMID: 27436264 Free PMC article.

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