Breuning MH - 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: breuning mh. 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: breuning mh. 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

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: breuning mh. Neuromuscul Disord. 2003 May;13(4):317-21. doi: 10.1016/s0960-8966(02)00285-7. Neuromuscul Disord. 2003. PMID: 12868501

4

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: breuning mh. Clin Genet. 2009 May;75(5):465-72. doi: 10.1111/j.1399-0004.2009.01173.x. Clin Genet. 2009. PMID: 19475718

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: breuning mh. 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

Duplications in the DMD gene.

White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, Janson AA, Ginjaar HB, Breuning MH, den Dunnen JT. White SJ, et al. Among authors: breuning mh. Hum Mutat. 2006 Sep;27(9):938-45. doi: 10.1002/humu.20367. Hum Mutat. 2006. PMID: 16917894

7

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: breuning mh. Clin Genet. 2011 Jan;79(1):71-8. doi: 10.1111/j.1399-0004.2010.01438.x. Clin Genet. 2011. PMID: 20486941

8

Testing the test--why pursue a better test for Huntington disease?

Timman R, Maat-Kievit A, Brouwer-DudokdeWit C, Zoeteweij M, Breuning MH, Tibben A. Timman R, et al. Among authors: breuning mh. Am J Med Genet B Neuropsychiatr Genet. 2003 Feb;117B(1):79-85. doi: 10.1002/ajmg.b.10028. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 12555240

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. 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

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

Gijsbers AC, Dauwerse JG, Bosch CA, Boon EM, van den Ende W, Kant SG, Hansson KM, Breuning MH, Bakker E, Ruivenkamp CA. Gijsbers AC, et al. Among authors: breuning mh. Eur J Med Genet. 2011 Jul-Aug;54(4):e409-12. doi: 10.1016/j.ejmg.2011.05.002. Epub 2011 May 23. Eur J Med Genet. 2011. PMID: 21664500

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