van Ommen GJ - Search Results

1

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

van Essen AJ, Kneppers AL, van der Hout AH, Scheffer H, Ginjaar IB, ten Kate LP, van Ommen GJ, Buys CH, Bakker E. van Essen AJ, et al. Among authors: van der hout ah, van ommen gj. J Med Genet. 1997 Oct;34(10):805-12. doi: 10.1136/jmg.34.10.805. J Med Genet. 1997. PMID: 9350811 Free PMC article.

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: van ommen gj, van paassen mm. 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

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: van ommen gj, van broeckhoven c. 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

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

5

Apparent SMA I unlinked to 5q.

Cobben JM, Scheffer H, de Visser M, Begeer JH, Molenaar WM, van der Steege G, Buys CH, van Ommen GJ, Ten Kate LP. Cobben JM, et al. Among authors: van der steege g, van ommen gj. J Med Genet. 1994 Mar;31(3):242-4. doi: 10.1136/jmg.31.3.242. J Med Genet. 1994. PMID: 8014975 Free PMC article.

6

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: van der tuijn ac, van ommen gj. 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.

7

An unusual variant of Becker muscular dystrophy.

de Visser M, Bakker E, Defesche JC, Bolhuis PA, van Ommen GJ. de Visser M, et al. Among authors: van ommen gj. Ann Neurol. 1990 May;27(5):578-81. doi: 10.1002/ana.410270521. Ann Neurol. 1990. PMID: 2193611

8

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: van deutekom j, van ommen gj. Hum Mutat. 2009 Mar;30(3):293-9. doi: 10.1002/humu.20918. Hum Mutat. 2009. PMID: 19156838 Review.

9

Therapeutic exon skipping for dysferlinopathies?

Aartsma-Rus A, Singh KH, Fokkema IF, Ginjaar IB, van Ommen GJ, den Dunnen JT, van der Maarel SM. Aartsma-Rus A, et al. Among authors: van der maarel sm, van ommen gj. Eur J Hum Genet. 2010 Aug;18(8):889-94. doi: 10.1038/ejhg.2010.4. Epub 2010 Feb 10. Eur J Hum Genet. 2010. PMID: 20145676 Free PMC article.

10

Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

Breuning MH, Snijdewint FG, Dauwerse JG, Saris JJ, Bakker E, Pearson PL, vanOmmen GJ. Breuning MH, et al. J Med Genet. 1990 Oct;27(10):614-7. doi: 10.1136/jmg.27.10.614. J Med Genet. 1990. PMID: 1978861 Free PMC article.

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