Bakker E - Search Results

1

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

Nielsen M, Bik E, Hes FJ, Breuning MH, Vasen HF, Bakker E, Tops CM, Weiss MM. Nielsen M, et al. Among authors: bakker e. Eur J Hum Genet. 2007 Oct;15(10):1034-42. doi: 10.1038/sj.ejhg.5201871. Epub 2007 Jun 13. Eur J Hum Genet. 2007. PMID: 17568392 Review.

2

Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.

Vink GR, White SJ, Gabelic S, Hogendoorn PC, Breuning MH, Bakker E. Vink GR, et al. Among authors: bakker e. Eur J Hum Genet. 2005 Apr;13(4):470-4. doi: 10.1038/sj.ejhg.5201343. Eur J Hum Genet. 2005. PMID: 15586175

3

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

Gijsbers AC, Bijlsma EK, Weiss MM, Bakker E, Breuning MH, Hoffer MJ, Ruivenkamp CA. Gijsbers AC, et al. Among authors: bakker e. Eur J Med Genet. 2008 Sep-Oct;51(5):479-87. doi: 10.1016/j.ejmg.2008.04.003. Epub 2008 May 3. Eur J Med Genet. 2008. PMID: 18547887

4

Somatic APC mosaicism: an underestimated cause of polyposis coli.

Hes FJ, Nielsen M, Bik EC, Konvalinka D, Wijnen JT, Bakker E, Vasen HF, Breuning MH, Tops CM. Hes FJ, et al. Among authors: bakker e. Gut. 2008 Jan;57(1):71-6. doi: 10.1136/gut.2006.117796. Epub 2007 Jun 29. Gut. 2008. PMID: 17604324

5

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.

Gijsbers AC, Lew JY, Bosch CA, Schuurs-Hoeijmakers JH, van Haeringen A, den Hollander NS, Kant SG, Bijlsma EK, Breuning MH, Bakker E, Ruivenkamp CA. Gijsbers AC, et al. Among authors: bakker e. Eur J Hum Genet. 2009 Nov;17(11):1394-402. doi: 10.1038/ejhg.2009.74. Epub 2009 May 13. Eur J Hum Genet. 2009. PMID: 19436329 Free PMC article.

6

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, Kriek M, van Haeringen A, Bijlsma EK, Bakker E, Breuning MH, Ruivenkamp CA. Gijsbers AC, et al. Among authors: bakker e. Eur J Med Genet. 2010 Sep-Oct;53(5):227-33. doi: 10.1016/j.ejmg.2010.06.003. Epub 2010 Jun 11. Eur J Med Genet. 2010. PMID: 20542150

7

Experiences with array-based sequence capture; toward clinical applications.

Almomani R, van der Heijden J, Ariyurek Y, Lai Y, Bakker E, van Galen M, Breuning MH, den Dunnen JT. Almomani R, et al. Among authors: bakker e. Eur J Hum Genet. 2011 Jan;19(1):50-5. doi: 10.1038/ejhg.2010.145. Epub 2010 Nov 24. Eur J Hum Genet. 2011. PMID: 21102627 Free PMC article.

8

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy.

Helderman-van den Enden AT, Madan K, Breuning MH, van der Hout AH, Bakker E, de Die-Smulders CE, Ginjaar HB. Helderman-van den Enden AT, et al. Among authors: bakker e. Eur J Hum Genet. 2013 Jan;21(1):21-6. doi: 10.1038/ejhg.2012.101. Epub 2012 Jun 6. Eur J Hum Genet. 2013. PMID: 22669413 Free PMC article.

9

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

Dauwerse JG, de Vries BB, Wouters CH, Bakker E, Rappold G, Mortier GR, Breuning MH, Peters DJ. Dauwerse JG, et al. Among authors: bakker e. Eur J Hum Genet. 2007 Jul;15(7):743-51. doi: 10.1038/sj.ejhg.5201833. Epub 2007 Apr 18. Eur J Hum Genet. 2007. PMID: 17440500

10

Identification of copy number variants associated with BPES-like phenotypes.

Gijsbers AC, D'haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, De Baere E, Ruivenkamp CA. Gijsbers AC, et al. Among authors: bakker e. Hum Genet. 2008 Dec;124(5):489-98. doi: 10.1007/s00439-008-0574-9. Epub 2008 Oct 25. Hum Genet. 2008. PMID: 18953567

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