Breuning MH - Search Results

1

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

2

Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses.

White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, Bakker B, Breuning MH, den Dunnen JT. White SJ, et al. Among authors: breuning mh. Hum Mutat. 2004 Jul;24(1):86-92. doi: 10.1002/humu.20054. Hum Mutat. 2004. PMID: 15221792

3

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

Losekoot M, Haarloo C, Ruivenkamp C, White SJ, Breuning MH, Peters DJ. Losekoot M, et al. Among authors: breuning mh. Hum Genet. 2005 Nov;118(2):185-206. doi: 10.1007/s00439-005-0027-7. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16133180

4

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.

5

Detecting copy number changes in genomic DNA: MAPH and MLPA.

White SJ, Breuning MH, den Dunnen JT. White SJ, et al. Among authors: breuning mh. Methods Cell Biol. 2004;75:751-68. doi: 10.1016/s0091-679x(04)75032-3. Methods Cell Biol. 2004. PMID: 15603451 No abstract available.

6

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Roelfsema JH, et al. Among authors: breuning mh. Am J Hum Genet. 2005 Apr;76(4):572-80. doi: 10.1086/429130. Epub 2005 Feb 10. Am J Hum Genet. 2005. PMID: 15706485 Free PMC article.

7

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.

White SJ, Uitte de Willige S, Verbove D, Politano L, Ginjaar I, Breuning MH, den Dunnen JT. White SJ, et al. Among authors: breuning mh. Hum Mutat. 2005 Jul;26(1):59. doi: 10.1002/humu.9347. Hum Mutat. 2005. PMID: 15954112

8

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

Kriek M, White SJ, Szuhai K, Knijnenburg J, van Ommen GJ, den Dunnen JT, Breuning MH. Kriek M, et al. Among authors: breuning mh. Eur J Hum Genet. 2006 Feb;14(2):180-9. doi: 10.1038/sj.ejhg.5201540. Eur J Hum Genet. 2006. PMID: 16391556

9

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.

Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH, Rosenberg C. Kriek M, et al. Among authors: breuning mh. Hum Genet. 2006 Aug;120(1):77-84. doi: 10.1007/s00439-006-0185-2. Epub 2006 May 18. Hum Genet. 2006. PMID: 16708226

10

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC. Lesnik Oberstein SA, et al. Among authors: breuning mh. Am J Hum Genet. 2006 Sep;79(3):562-6. doi: 10.1086/507567. Epub 2006 Jul 19. Am J Hum Genet. 2006. PMID: 16909395 Free PMC article.

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