Bakker E - Search Results

1

Detection of truncated dystrophin in fetal DMD myotubes.

Ginjaar IB, Bakker E, den Dunnen JT, Wessels A, van Paassen MM, Kloosterman MD, Zubrzycka-Gaarn EE, Fischbeck KH, Moorman AF, van Ommen GJ. Ginjaar IB, et al. Among authors: bakker e. Adv Exp Med Biol. 1990;280:17-23. doi: 10.1007/978-1-4684-5865-7_4. Adv Exp Med Biol. 1990. PMID: 2248137

2

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: bakker e. 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.

3

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

Blonden LA, den Dunnen JT, van Paassen HM, Wapenaar MC, Grootscholten PM, Ginjaar HB, Bakker E, Pearson PL, van Ommen GJ. Blonden LA, et al. Among authors: bakker e. Nucleic Acids Res. 1989 Jul 25;17(14):5611-21. doi: 10.1093/nar/17.14.5611. Nucleic Acids Res. 1989. PMID: 2569720 Free PMC article.

4

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. Among authors: bakker e. Am J Hum Genet. 1989 Dec;45(6):835-47. Am J Hum Genet. 1989. PMID: 2573997 Free PMC article.

5

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels.

den Dunnen JT, Bakker E, Breteler EG, Pearson PL, van Ommen GJ. den Dunnen JT, et al. Among authors: bakker e. Nature. 1987 Oct 15-21;329(6140):640-2. doi: 10.1038/329640a0. Nature. 1987. PMID: 2889148

6

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: bakker e. Hum Mutat. 1995;5(3):235-42. doi: 10.1002/humu.1380050308. Hum Mutat. 1995. PMID: 7599634

7

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.

Roest PA, Bout M, van der Tuijn AC, Ginjaar IB, Bakker E, Hogervorst FB, van Ommen GJ, den Dunnen JT. Roest PA, et al. Among authors: bakker e. J Med Genet. 1996 Nov;33(11):935-9. doi: 10.1136/jmg.33.11.935. J Med Genet. 1996. PMID: 8950674 Free PMC article.

8

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.

Ginjaar IB, Kneppers AL, v d Meulen JD, Anderson LV, Bremmer-Bout M, van Deutekom JC, Weegenaar J, den Dunnen JT, Bakker E. Ginjaar IB, et al. Among authors: bakker e. Eur J Hum Genet. 2000 Oct;8(10):793-6. doi: 10.1038/sj.ejhg.5200535. Eur J Hum Genet. 2000. PMID: 11039581

9

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: bakker e. Hum Mutat. 2004 Jan;23(1):57-66. doi: 10.1002/humu.10283. Hum Mutat. 2004. PMID: 14695533

10

Duchenne and Becker muscular dystrophy.

Kneppers AL, Ginjaar IB, Bakker E. Kneppers AL, et al. Among authors: bakker e. Methods Mol Med. 2004;92:311-41. doi: 10.1385/1-59259-432-8:311. Methods Mol Med. 2004. PMID: 14733319 No abstract available.

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