den Dunnen J - Search Results

1

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. Among authors: den hollander n, den dunnen j. 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

2

Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.

van der Maarel SM, Scholten IH, Maat-Kievit JA, Huber I, de Kok YJ, de Wijs I, van de Pol TJ, van Bokhoven H, den Dunnen JT, van Ommen GJ, et al. van der Maarel SM, et al. Among authors: den dunnen jt. Eur J Hum Genet. 1995;3(4):207-18. doi: 10.1159/000472301. Eur J Hum Genet. 1995. PMID: 8528669

3

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. 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.

4

An alternative to FISH: detecting deletion and duplication carriers within 24 hours.

White SJ, Sterrenburg E, van Ommen GJ, den Dunnen JT, Breuning MH. White SJ, et al. Among authors: den dunnen jt. J Med Genet. 2003 Oct;40(10):e113. doi: 10.1136/jmg.40.10.e113. J Med Genet. 2003. PMID: 14569136 Free PMC article. No abstract available.

5

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: den dunnen jt. J Med Genet. 2004 Apr;41(4):249-55. doi: 10.1136/jmg.2003.014308. J Med Genet. 2004. PMID: 15060096 Free PMC article.

6

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

7

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.

8

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.

9

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.

Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC. Harteveld CL, et al. Among authors: den dunnen jt. J Med Genet. 2005 Dec;42(12):922-31. doi: 10.1136/jmg.2005.033597. Epub 2005 May 13. J Med Genet. 2005. PMID: 15894596 Free PMC article.

10

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: den dunnen jt. Hum Mutat. 2005 Jul;26(1):59. doi: 10.1002/humu.9347. Hum Mutat. 2005. PMID: 15954112

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