Breuning MH - Search Results

1

Genomic imbalances in mental retardation.

Kriek M, White SJ, Bouma MC, Dauwerse HG, Hansson KB, Nijhuis JV, Bakker B, van Ommen GJ, den Dunnen JT, Breuning MH. Kriek M, et al. Among authors: breuning mh. J Med Genet. 2004 Apr;41(4):249-55. doi: 10.1136/jmg.2003.014308. J Med Genet. 2004. PMID: 15060096 Free PMC article.

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

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

4

Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH.

Kriek M, Knijnenburg J, White SJ, Rosenberg C, den Dunnen JT, van Ommen GJ, Tanke HJ, Breuning MH, Szuhai K. Kriek M, et al. Among authors: breuning mh. Am J Med Genet A. 2007 Mar 15;143A(6):610-4. doi: 10.1002/ajmg.a.31593. Am J Med Genet A. 2007. PMID: 17318845 No abstract available.

5

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, Kriek M, van Haeringen A, Bijlsma EK, Bakker E, Breuning MH, Ruivenkamp CA. Gijsbers AC, et al. Among authors: breuning mh. Eur J Med Genet. 2010 Sep-Oct;53(5):227-33. doi: 10.1016/j.ejmg.2010.06.003. Epub 2010 Jun 11. Eur J Med Genet. 2010. PMID: 20542150

6

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.

White S, Kalf M, Liu Q, Villerius M, Engelsma D, Kriek M, Vollebregt E, Bakker B, van Ommen GJ, Breuning MH, den Dunnen JT. White S, et al. Among authors: breuning mh. Am J Hum Genet. 2002 Aug;71(2):365-74. doi: 10.1086/341942. Epub 2002 Jul 8. Am J Hum Genet. 2002. PMID: 12111668 Free PMC article.

7

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH. Petrij F, et al. Among authors: breuning mh. J Med Genet. 2000 Mar;37(3):168-76. doi: 10.1136/jmg.37.3.168. J Med Genet. 2000. PMID: 10699051 Free PMC article.

8

FISH in genome research and molecular diagnostics.

van Ommen GJ, Breuning MH, Raap AK. van Ommen GJ, et al. Among authors: breuning mh. Curr Opin Genet Dev. 1995 Jun;5(3):304-8. doi: 10.1016/0959-437x(95)80043-3. Curr Opin Genet Dev. 1995. PMID: 7549423 Review.

9

Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?

Aten E, den Hollander N, Ruivenkamp C, Knijnenburg J, van Bokhoven H, den Dunnen J, Breuning M. Aten E, et al. Am J Med Genet A. 2009 May;149A(5):975-81. doi: 10.1002/ajmg.a.32748. Am J Med Genet A. 2009. PMID: 19353584

10

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

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