Bakker E - Search Results

1

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.

Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT. Aten E, et al. Among authors: bakker e. Hum Mutat. 2010 Oct;31(10):1125-33. doi: 10.1002/humu.21335. Hum Mutat. 2010. PMID: 20672378

2

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

Oosterwijk JC, van der Wielen MJ, van de Vosse E, Voorhoeve E, Bakker E. Oosterwijk JC, et al. Among authors: bakker e. J Med Genet. 1995 Sep;32(9):736-9. doi: 10.1136/jmg.32.9.736. J Med Genet. 1995. PMID: 8544196 Free PMC article.

3

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity.

Oosterwijk JC, Richard G, van der Wielen MJ, van de Vosse E, Harth W, Sandkuijl LA, Bakker E, van Ommen GJ. Oosterwijk JC, et al. Among authors: bakker e. Hum Genet. 1997 Oct;100(5-6):520-4. doi: 10.1007/s004390050546. Hum Genet. 1997. PMID: 9341865

4

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.

Hofstra RM, Mulder IM, Vossen R, de Koning-Gans PA, Kraak M, Ginjaar IB, van der Hout AH, Bakker E, Buys CH, van Ommen GJ, van Essen AJ, den Dunnen JT. Hofstra RM, et al. Among authors: bakker e. Hum Mutat. 2004 Jan;23(1):57-66. doi: 10.1002/humu.10283. Hum Mutat. 2004. PMID: 14695533

5

Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.

Almomani R, van der Stoep N, Bakker E, den Dunnen JT, Breuning MH, Ginjaar IB. Almomani R, et al. Among authors: bakker e. Neuromuscul Disord. 2009 Jun;19(6):383-90. doi: 10.1016/j.nmd.2009.03.004. Epub 2009 May 5. Neuromuscul Disord. 2009. PMID: 19409785

6

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.

7

Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements.

Phylipsen M, Chaibunruang A, Vogelaar IP, Balak JR, Schaap RA, Ariyurek Y, Fucharoen S, den Dunnen JT, Giordano PC, Bakker E, Harteveld CL. Phylipsen M, et al. Among authors: bakker e. Hum Mutat. 2012 Jan;33(1):272-80. doi: 10.1002/humu.21612. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922597

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

Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis.

Kneppers AL, Deutz-Terlouw PP, den Dunnen JT, van Ommen GJ, Bakker E. Kneppers AL, et al. Among authors: bakker e. Hum Mutat. 1995;5(3):235-42. doi: 10.1002/humu.1380050308. Hum Mutat. 1995. PMID: 7599634

10

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.

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