Breuning MH - 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: breuning mh. 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: breuning mh. Eur J Hum Genet. 2005 Apr;13(4):470-4. doi: 10.1038/sj.ejhg.5201343. Eur J Hum Genet. 2005. PMID: 15586175

3

Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

Nielsen M, Hes FJ, Nagengast FM, Weiss MM, Mathus-Vliegen EM, Morreau H, Breuning MH, Wijnen JT, Tops CM, Vasen HF. Nielsen M, et al. Among authors: breuning mh. Clin Genet. 2007 May;71(5):427-33. doi: 10.1111/j.1399-0004.2007.00766.x. Clin Genet. 2007. PMID: 17489848

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: breuning mh. Gut. 2008 Jan;57(1):71-6. doi: 10.1136/gut.2006.117796. Epub 2007 Jun 29. Gut. 2008. PMID: 17604324

5

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: breuning mh. 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

6

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: breuning mh. 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

7

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: breuning mh. Hum Genet. 2008 Dec;124(5):489-98. doi: 10.1007/s00439-008-0574-9. Epub 2008 Oct 25. Hum Genet. 2008. PMID: 18953567

8

Deep sequencing to reveal new variants in pooled DNA samples.

Out AA, van Minderhout IJ, Goeman JJ, Ariyurek Y, Ossowski S, Schneeberger K, Weigel D, van Galen M, Taschner PE, Tops CM, Breuning MH, van Ommen GJ, den Dunnen JT, Devilee P, Hes FJ. Out AA, et al. Among authors: breuning mh. Hum Mutat. 2009 Dec;30(12):1703-12. doi: 10.1002/humu.21122. Hum Mutat. 2009. PMID: 19842214

9

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: breuning mh. 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.

10

MUTYH gene variants and breast cancer in a Dutch case–control study.

Out AA, Wasielewski M, Huijts PE, van Minderhout IJ, Houwing-Duistermaat JJ, Tops CM, Nielsen M, Seynaeve C, Wijnen JT, Breuning MH, van Asperen CJ, Schutte M, Hes FJ, Devilee P. Out AA, et al. Among authors: breuning mh. Breast Cancer Res Treat. 2012 Jul;134(1):219-27. doi: 10.1007/s10549-012-1965-0. Breast Cancer Res Treat. 2012. PMID: 22297469 Free PMC article.

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