den Dunnen JT - Search Results

1

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, Diaz de Ståhl T, Menzel U, Sandgren J, von Tell D, Poplawski A, Crowley M, Crasto C, Partridge EC, Tiwari H, Allison DB, Komorowski J, van Ommen GJ, Boomsma DI, Pedersen NL, den Dunnen JT, Wirdefeldt K, Dumanski JP. Bruder CE, et al. Among authors: den dunnen jt. Am J Hum Genet. 2008 Mar;82(3):763-71. doi: 10.1016/j.ajhg.2007.12.011. Epub 2008 Feb 14. Am J Hum Genet. 2008. PMID: 18304490 Free PMC article.

2

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

3

Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense.

Aartsma-Rus A, Janson AA, Kaman WE, Bremmer-Bout M, van Ommen GJ, den Dunnen JT, van Deutekom JC. Aartsma-Rus A, et al. Among authors: den dunnen jt. Am J Hum Genet. 2004 Jan;74(1):83-92. doi: 10.1086/381039. Epub 2003 Dec 16. Am J Hum Genet. 2004. PMID: 14681829 Free PMC article.

4

Somatic expansion of the (CAG)n repeat in Huntington disease brains.

De Rooij KE, De Koning Gans PA, Roos RA, Van Ommen GJ, Den Dunnen JT. De Rooij KE, et al. Among authors: den dunnen jt. Hum Genet. 1995 Mar;95(3):270-4. doi: 10.1007/BF00225192. Hum Genet. 1995. PMID: 7868117

5

A polymorphic STS in intron 44 of the dystrophin gene.

Blonden LA, Terwindt GM, Den Dunnen JT, Van Ommen GJ. Blonden LA, et al. Among authors: den dunnen jt. Hum Genet. 1994 Apr;93(4):479-80. doi: 10.1007/BF00201683. Hum Genet. 1994. PMID: 7909532

6

The protein truncation test: A review.

Den Dunnen JT, Van Ommen GJ. Den Dunnen JT, et al. Hum Mutat. 1999;14(2):95-102. doi: 10.1002/(SICI)1098-1004(1999)14:2<95::AID-HUMU1>3.0.CO;2-G. Hum Mutat. 1999. PMID: 10425032 Review.

7

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.

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

A CA-repeat polymorphism near DXS418 (P122).

Van De Vosse E, Booms PF, Vossen RH, Wapenaar MC, Van Ommen GJ, Den Dunnen JT. Van De Vosse E, et al. Among authors: den dunnen jt. Hum Mol Genet. 1993 Dec;2(12):2202. doi: 10.1093/hmg/2.12.2202-a. Hum Mol Genet. 1993. PMID: 8111402 No abstract available.

10

Protein truncation test (PTT) for rapid detection of translation-terminating mutations.

Roest PA, Roberts RG, Sugino S, van Ommen GJ, den Dunnen JT. Roest PA, et al. Among authors: den dunnen jt. Hum Mol Genet. 1993 Oct;2(10):1719-21. doi: 10.1093/hmg/2.10.1719. Hum Mol Genet. 1993. PMID: 8268929

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