van Ravenswaaij-Arts C - Search Results

1

Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region.

Donovan APA, Yu T, Ellegood J, Riegman KLH, de Geus C, van Ravenswaaij-Arts C, Fernandes C, Lerch JP, Basson MA. Donovan APA, et al. Front Neuroanat. 2017 Oct 4;11:86. doi: 10.3389/fnana.2017.00086. eCollection 2017. Front Neuroanat. 2017. PMID: 29046629 Free PMC article.

2

Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome.

Yu T, Meiners LC, Danielsen K, Wong MT, Bowler T, Reinberg D, Scambler PJ, van Ravenswaaij-Arts CM, Basson MA. Yu T, et al. Elife. 2013 Dec 24;2:e01305. doi: 10.7554/eLife.01305. Elife. 2013. PMID: 24368733 Free PMC article.

3

Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.

Basson MA, van Ravenswaaij-Arts C. Basson MA, et al. Trends Genet. 2015 Oct;31(10):600-611. doi: 10.1016/j.tig.2015.05.009. Epub 2015 Sep 24. Trends Genet. 2015. PMID: 26411921 Free PMC article. Review.

4

Guidelines in CHARGE syndrome and the missing link: Cranial imaging.

de Geus CM, Free RH, Verbist BM, Sival DA, Blake KD, Meiners LC, van Ravenswaaij-Arts CMA. de Geus CM, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):450-464. doi: 10.1002/ajmg.c.31593. Epub 2017 Nov 23. Am J Med Genet C Semin Med Genet. 2017. PMID: 29168326 Free PMC article. Review.

5

Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study.

de Geus CM, Bergman JEH, van Ravenswaaij-Arts CMA, Meiners LC. de Geus CM, et al. AJNR Am J Neuroradiol. 2018 Oct;39(10):1938-1942. doi: 10.3174/ajnr.A5810. Epub 2018 Sep 20. AJNR Am J Neuroradiol. 2018. PMID: 30237300 Free PMC article.

6

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. Bergman JE, et al. J Med Genet. 2011 May;48(5):334-42. doi: 10.1136/jmg.2010.087106. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378379 Review.

7

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH. Janssen N, et al. Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22461308 Review.

8

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND, Tranebjaerg L, Hoefsloot LH, van Ravenswaaij-Arts CM, Hofstra RM. Bergman JE, et al. Hum Mutat. 2012 Aug;33(8):1251-60. doi: 10.1002/humu.22106. Epub 2012 May 11. Hum Mutat. 2012. PMID: 22539353

9

The cardiac phenotype in patients with a CHD7 mutation.

Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L. Corsten-Janssen N, et al. Circ Cardiovasc Genet. 2013 Jun;6(3):248-54. doi: 10.1161/CIRCGENETICS.113.000054. Circ Cardiovasc Genet. 2013. PMID: 23677905

10

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.

Corsten-Janssen N, Saitta SC, Hoefsloot LH, McDonald-McGinn DM, Driscoll DA, Derks R, Dickinson KA, Kerstjens-Frederikse WS, Emanuel BS, Zackai EH, van Ravenswaaij-Arts CM. Corsten-Janssen N, et al. Mol Syndromol. 2013 Jun;4(5):235-45. doi: 10.1159/000351127. Epub 2013 May 28. Mol Syndromol. 2013. PMID: 23885230 Free PMC article.

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