van Deutekom JC - Search Results

1

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: van deutekom jc. Eur J Hum Genet. 2000 Oct;8(10):793-6. doi: 10.1038/sj.ejhg.5200535. Eur J Hum Genet. 2000. PMID: 11039581

2

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit.

van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. van Deutekom JC, et al. Among authors: van tienhoven ea, van ommen gj. Hum Mol Genet. 1993 Dec;2(12):2037-42. doi: 10.1093/hmg/2.12.2037. Hum Mol Genet. 1993. PMID: 8111371

3

Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome.

van Deutekom JC, Bruyn RP, van den Boorn N, Sandkuijl LA, Padberg GW, Frants RR. van Deutekom JC, et al. Among authors: van den boorn n. Hum Genet. 1994 Apr;93(4):408-14. doi: 10.1007/BF00201665. Hum Genet. 1994. PMID: 8168811

4

Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.

van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR. van Deutekom JC, et al. Among authors: van geel m. Hum Mol Genet. 1996 May;5(5):581-90. doi: 10.1093/hmg/5.5.581. Hum Mol Genet. 1996. PMID: 8733123

5

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1.

van Deutekom JC, Bakker E, Lemmers RJ, van der Wielen MJ, Bik E, Hofker MH, Padberg GW, Frants RR. van Deutekom JC, et al. Among authors: van der wielen mj. Hum Mol Genet. 1996 Dec;5(12):1997-2003. doi: 10.1093/hmg/5.12.1997. Hum Mol Genet. 1996. PMID: 8968754

6

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.

Lemmers RJ, van der Maarel SM, van Deutekom JC, van der Wielen MJ, Deidda G, Dauwerse HG, Hewitt J, Hofker M, Bakker E, Padberg GW, Frants RR. Lemmers RJ, et al. Among authors: van der maarel sm, van der wielen mj, van deutekom jc. Hum Mol Genet. 1998 Aug;7(8):1207-14. doi: 10.1093/hmg/7.8.1207. Hum Mol Genet. 1998. PMID: 9668160

7

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells.

van Deutekom JC, Bremmer-Bout M, Janson AA, Ginjaar IB, Baas F, den Dunnen JT, van Ommen GJ. van Deutekom JC, et al. Among authors: van ommen gj. Hum Mol Genet. 2001 Jul 15;10(15):1547-54. doi: 10.1093/hmg/10.15.1547. Hum Mol Genet. 2001. PMID: 11468272

8

Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy.

Aartsma-Rus A, Bremmer-Bout M, Janson AA, den Dunnen JT, van Ommen GJ, van Deutekom JC. Aartsma-Rus A, et al. Among authors: van ommen gj, van deutekom jc. Neuromuscul Disord. 2002 Oct;12 Suppl 1:S71-7. doi: 10.1016/s0960-8966(02)00086-x. Neuromuscul Disord. 2002. PMID: 12206800

9

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: van ommen gj, van deutekom jc. Hum Mol Genet. 2003 Apr 15;12(8):907-14. doi: 10.1093/hmg/ddg100. Hum Mol Genet. 2003. PMID: 12668614

10

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: van ommen gj, van deutekom jc. 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.

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