den Dunnen JT - Search Results

1

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.

Passos-Bueno MR, Bakker E, Kneppers AL, Takata RI, Rapaport D, den Dunnen JT, Zatz M, van Ommen GJ. Passos-Bueno MR, et al. Among authors: den dunnen jt. Am J Hum Genet. 1992 Nov;51(5):1150-5. Am J Hum Genet. 1992. PMID: 1415256 Free PMC article.

2

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ. Den Dunnen JT, et al. Am J Hum Genet. 1989 Dec;45(6):835-47. Am J Hum Genet. 1989. PMID: 2573997 Free PMC article.

3

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

Bakker E, Veenema H, Den Dunnen JT, van Broeckhoven C, Grootscholten PM, Bonten EJ, van Ommen GJ, Pearson PL. Bakker E, et al. Among authors: den dunnen jt. J Med Genet. 1989 Sep;26(9):553-9. doi: 10.1136/jmg.26.9.553. J Med Genet. 1989. PMID: 2810338 Free PMC article.

4

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.

5

Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.

Aartsma-Rus A, Janson AA, Kaman WE, Bremmer-Bout M, den Dunnen JT, Baas F, van Ommen GJ, van Deutekom JC. Aartsma-Rus A, et al. Among authors: den dunnen jt. Hum Mol Genet. 2003 Apr 15;12(8):907-14. doi: 10.1093/hmg/ddg100. Hum Mol Genet. 2003. PMID: 12668614

6

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.

7

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

8

Characterization and cell type distribution of a novel, major transcript of the Duchenne muscular dystrophy gene.

Rapaport D, Lederfein D, den Dunnen JT, Grootscholten PM, Van Ommen GJ, Fuchs O, Nudel U, Yaffe D. Rapaport D, et al. Among authors: den dunnen jt. Differentiation. 1992 Apr;49(3):187-93. doi: 10.1111/j.1432-0436.1992.tb00666.x. Differentiation. 1992. PMID: 1377655

9

Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.

Nicholson LV, Bushby KM, Johnson MA, den Dunnen JT, Ginjaar IB, van Ommen GJ. Nicholson LV, et al. Among authors: den dunnen jt. J Med Genet. 1992 Dec;29(12):892-6. doi: 10.1136/jmg.29.12.892. J Med Genet. 1992. PMID: 1479604 Free PMC article.

10

Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy.

Ginjaar IB, Bakker E, van Paassen MM, den Dunnen JT, Wessels A, Zubrzycka-Gaarn EE, Moorman AF, van Ommen GJ. Ginjaar IB, et al. Among authors: den dunnen jt. J Med Genet. 1991 Aug;28(8):505-10. doi: 10.1136/jmg.28.8.505. J Med Genet. 1991. PMID: 1920366 Free PMC article.

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