Brouwer OF - Search Results

1

A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).

Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R. Rump P, et al. Among authors: brouwer of. Clin Genet. 2011 Feb;79(2):183-8. doi: 10.1111/j.1399-0004.2010.01449.x. Clin Genet. 2011. PMID: 20507344

2

Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay.

Verbruggen KT, Meiners LC, Sijens PE, Lunsing RJ, van Spronsen FJ, Brouwer OF. Verbruggen KT, et al. Among authors: brouwer of. Eur J Paediatr Neurol. 2009 Mar;13(2):181-90. doi: 10.1016/j.ejpn.2008.04.014. Epub 2008 Jun 24. Eur J Paediatr Neurol. 2009. PMID: 18579422

3

Quantitative multivoxel proton spectroscopy of the brain in developmental delay.

Verbruggen KT, Maurits NM, Meiners LC, Brouwer OF, van Spronsen FJ, Sijens PE. Verbruggen KT, et al. Among authors: brouwer of. J Magn Reson Imaging. 2009 Oct;30(4):716-21. doi: 10.1002/jmri.21909. J Magn Reson Imaging. 2009. PMID: 19787717

4

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.

Van Reeuwijk J, Olderode-Berends MJ, Van den Elzen C, Brouwer OF, Roscioli T, Van Pampus MG, Scheffer H, Brunner HG, Van Bokhoven H, Hol FA. Van Reeuwijk J, et al. Among authors: brouwer of. Clin Genet. 2010 Sep;78(3):275-81. doi: 10.1111/j.1399-0004.2010.01384.x. Epub 2010 Feb 11. Clin Genet. 2010. PMID: 20236121

5

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.

Vlaskamp DR, Rump P, Callenbach PM, Vos YJ, Sikkema-Raddatz B, van Ravenswaaij-Arts CM, Brouwer OF. Vlaskamp DR, et al. Among authors: brouwer of. Eur J Paediatr Neurol. 2016 May;20(3):489-92. doi: 10.1016/j.ejpn.2015.12.014. Epub 2016 Jan 8. Eur J Paediatr Neurol. 2016. PMID: 26818399

6

Copy number variation in a hospital-based cohort of children with epilepsy.

Vlaskamp DRM, Callenbach PMC, Rump P, Giannini LAA, Dijkhuizen T, Brouwer OF, van Ravenswaaij-Arts CMA. Vlaskamp DRM, et al. Among authors: brouwer of. Epilepsia Open. 2017 May 8;2(2):244-254. doi: 10.1002/epi4.12057. eCollection 2017 Jun. Epilepsia Open. 2017. PMID: 29588953 Free PMC article.

7

PRRT2-related phenotypes in patients with a 16p11.2 deletion.

Vlaskamp DRM, Callenbach PMC, Rump P, Giannini LAA, Brilstra EH, Dijkhuizen T, Vos YJ, van der Kevie-Kersemaekers AF, Knijnenburg J, de Leeuw N, van Minkelen R, Ruivenkamp CAL, Stegmann APA, Brouwer OF, van Ravenswaaij-Arts CMA. Vlaskamp DRM, et al. Among authors: brouwer of. Eur J Med Genet. 2019 Apr;62(4):265-269. doi: 10.1016/j.ejmg.2018.08.002. Epub 2018 Aug 17. Eur J Med Genet. 2019. PMID: 30125676 Free article.

8

Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy.

Vlaskamp DRM, Rump P, Callenbach PMC, Brilstra EH, Velthuizen ME, Brouwer OF, Ranchor AV, van Ravenswaaij-Arts CMA. Vlaskamp DRM, et al. Among authors: brouwer of. Eur J Paediatr Neurol. 2021 May;32:128-135. doi: 10.1016/j.ejpn.2021.03.015. Epub 2021 Apr 2. Eur J Paediatr Neurol. 2021. PMID: 33971557 Free article.

9

Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.

Verheij JB, Sival DA, van der Hoeven JH, Vos YJ, Meiners LC, Brouwer OF, van Essen AJ. Verheij JB, et al. Among authors: brouwer of. Eur J Paediatr Neurol. 2006 Jan;10(1):11-7. doi: 10.1016/j.ejpn.2005.10.004. Epub 2006 Feb 28. Eur J Paediatr Neurol. 2006. PMID: 16504559

10

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.

Verschuuren-Bemelmans CC, Winter P, Sival DA, Elting JW, Brouwer OF, Müller U. Verschuuren-Bemelmans CC, et al. Among authors: brouwer of. Eur J Hum Genet. 2008 Nov;16(11):1407-11. doi: 10.1038/ejhg.2008.108. Epub 2008 Jun 4. Eur J Hum Genet. 2008. PMID: 18523452

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