den Dunnen JT - Search Results

1

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: den dunnen jt. 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.

2

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: den dunnen jt. 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.

3

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: den dunnen jt. 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.

4

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: den dunnen jt. Eur J Hum Genet. 2006 Feb;14(2):180-9. doi: 10.1038/sj.ejhg.5201540. Eur J Hum Genet. 2006. PMID: 16391556

5

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: den dunnen jt. Hum Genet. 2006 Aug;120(1):77-84. doi: 10.1007/s00439-006-0185-2. Epub 2006 May 18. Hum Genet. 2006. PMID: 16708226

6

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: den dunnen jt. 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.

7

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M. Santen GW, et al. Among authors: den hollander ns, den dunnen jt. Nat Genet. 2012 Mar 18;44(4):379-80. doi: 10.1038/ng.2217. Nat Genet. 2012. PMID: 22426309

8

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

9

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: den dunnen jt. Hum Mutat. 2004 Jul;24(1):86-92. doi: 10.1002/humu.20054. Hum Mutat. 2004. PMID: 15221792

10

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

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

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