den Dunnen JT - Search Results

1

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: den dunnen jt. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039

2

Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis.

Kneppers AL, Deutz-Terlouw PP, den Dunnen JT, van Ommen GJ, Bakker E. Kneppers AL, et al. Among authors: den dunnen jt. Hum Mutat. 1995;5(3):235-42. doi: 10.1002/humu.1380050308. Hum Mutat. 1995. PMID: 7599634

3

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

den Dunnen JT, Antonarakis SE. den Dunnen JT, et al. Hum Mutat. 2000;15(1):7-12. doi: 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10612815

4

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.

Hofstra RM, Mulder IM, Vossen R, de Koning-Gans PA, Kraak M, Ginjaar IB, van der Hout AH, Bakker E, Buys CH, van Ommen GJ, van Essen AJ, den Dunnen JT. Hofstra RM, et al. Among authors: den dunnen jt. Hum Mutat. 2004 Jan;23(1):57-66. doi: 10.1002/humu.10283. Hum Mutat. 2004. PMID: 14695533

5

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

6

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

7

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

Fokkema IF, den Dunnen JT, Taschner PE. Fokkema IF, et al. Among authors: den dunnen jt. Hum Mutat. 2005 Aug;26(2):63-8. doi: 10.1002/humu.20201. Hum Mutat. 2005. PMID: 15977173

8

Duplications in the DMD gene.

White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, Janson AA, Ginjaar HB, Breuning MH, den Dunnen JT. White SJ, et al. Among authors: den dunnen jt. Hum Mutat. 2006 Sep;27(9):938-45. doi: 10.1002/humu.20367. Hum Mutat. 2006. PMID: 16917894

9

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. Wildeman M, et al. Among authors: den dunnen jt. Hum Mutat. 2008 Jan;29(1):6-13. doi: 10.1002/humu.20654. Hum Mutat. 2008. PMID: 18000842

10

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.

Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar I, van Deutekom J, van Ommen GJ, den Dunnen JT. Aartsma-Rus A, et al. Among authors: den dunnen jt. Hum Mutat. 2009 Mar;30(3):293-9. doi: 10.1002/humu.20918. Hum Mutat. 2009. PMID: 19156838 Review.

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