Bakker E - Search Results

1

Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

Helderman-van den Enden AT, van den Bergen JC, Breuning MH, Verschuuren JJ, Tibben A, Bakker E, Ginjaar HB. Helderman-van den Enden AT, et al. Among authors: bakker e. Clin Genet. 2011 Mar;79(3):236-42. doi: 10.1111/j.1399-0004.2010.01579.x. Epub 2010 Nov 11. Clin Genet. 2011. PMID: 21070212

2

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.

3

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ. Den Dunnen JT, et al. Among authors: bakker e. Am J Hum Genet. 1989 Dec;45(6):835-47. Am J Hum Genet. 1989. PMID: 2573997 Free PMC article.

4

Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures.

Helderman-van den Enden AT, Ginjaar HB, Kneppers AL, Bakker E, Breuning MH, de Visser M. Helderman-van den Enden AT, et al. Among authors: bakker e. Neuromuscul Disord. 2003 May;13(4):317-21. doi: 10.1016/s0960-8966(02)00285-7. Neuromuscul Disord. 2003. PMID: 12868501

5

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.

Helderman-van den Enden AT, de Jong R, den Dunnen JT, Houwing-Duistermaat JJ, Kneppers AL, Ginjaar HB, Breuning MH, Bakker E. Helderman-van den Enden AT, et al. Among authors: bakker e. Clin Genet. 2009 May;75(5):465-72. doi: 10.1111/j.1399-0004.2009.01173.x. Clin Genet. 2009. PMID: 19475718

6

Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients.

Helderman-van den Enden AT, Straathof CS, Aartsma-Rus A, den Dunnen JT, Verbist BM, Bakker E, Verschuuren JJ, Ginjaar HB. Helderman-van den Enden AT, et al. Among authors: bakker e. Neuromuscul Disord. 2010 Apr;20(4):251-4. doi: 10.1016/j.nmd.2010.01.013. Epub 2010 Feb 13. Neuromuscul Disord. 2010. PMID: 20153965

7

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

8

Population-based incidence and prevalence of facioscapulohumeral dystrophy.

Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E, Weinreich SS, Verbeek AL, van Engelen BG. Deenen JC, et al. Among authors: bakker e. Neurology. 2014 Sep 16;83(12):1056-9. doi: 10.1212/WNL.0000000000000797. Epub 2014 Aug 13. Neurology. 2014. PMID: 25122204 Free PMC article.

9

Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

Breuning MH, Snijdewint FG, Dauwerse JG, Saris JJ, Bakker E, Pearson PL, vanOmmen GJ. Breuning MH, et al. Among authors: bakker e. J Med Genet. 1990 Oct;27(10):614-7. doi: 10.1136/jmg.27.10.614. J Med Genet. 1990. PMID: 1978861 Free PMC article.

10

X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

Gijsbers AC, den Hollander NS, Helderman-van de Enden AT, Schuurs-Hoeijmakers JH, Vijfhuizen L, Bijlsma EK, van Haeringen A, Hansson KB, Bakker E, Breuning MH, Ruivenkamp CA. Gijsbers AC, et al. Among authors: bakker e. Clin Genet. 2011 Jan;79(1):71-8. doi: 10.1111/j.1399-0004.2010.01438.x. Clin Genet. 2011. PMID: 20486941

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