Cobben JM - Search Results

1

A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis.

van der Steege G, Cobben JM, Osinga J, Scheffer H, van Ommen GJ, Buys CH. van der Steege G, et al. Among authors: cobben jm. Hum Genet. 1995 Nov;96(5):589-91. doi: 10.1007/BF00197416. Hum Genet. 1995. PMID: 8530008

2

Identification of key recombinants in multiplex SMA families.

van der Steege G, Cobben JM, Brahe C, Osinga J, Zappata S, Scheffer H, Neri G, van Ommen GJ, ten Kate LP, Buys CH. van der Steege G, et al. Among authors: cobben jm. Genomics. 1994 Jul 1;22(1):219-22. doi: 10.1006/geno.1994.1367. Genomics. 1994. PMID: 7959774

3

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. 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.

4

Linkage and apparent heterogeneity in proximal spinal muscular atrophies.

Cobben JM, Scheffer H, De Visser M, Osinga J, Frants R, van der Steege G, Wijmenga C, ten Kate LP, van Ommen GJ, Buys CH. Cobben JM, et al. Neuromuscul Disord. 1993 Jul;3(4):327-33. doi: 10.1016/0960-8966(93)90026-g. Neuromuscul Disord. 1993. PMID: 8268730

5

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.

van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van Ommen GJ, Brahe C, Buys CH. van der Steege G, et al. Among authors: cobben jm. Am J Hum Genet. 1996 Oct;59(4):834-8. Am J Hum Genet. 1996. PMID: 8808598 Free PMC article.

6

Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysis.

Cobben JM, Scheffer H, De Visser M, Van der Steege G, Verhey JB, Osinga J, Burton M, Mensink RG, Grootscholten PM, Ten Kate LP, Buys CH. Cobben JM, et al. Eur J Hum Genet. 1996;4(4):231-6. Eur J Hum Genet. 1996. PMID: 8875190

7

SMA carrier testing--validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion.

Scheffer H, Cobben JM, Mensink RG, Stulp RP, van der Steege G, Buys CH. Scheffer H, et al. Among authors: cobben jm. Eur J Hum Genet. 2000 Feb;8(2):79-86. doi: 10.1038/sj.ejhg.5200404. Eur J Hum Genet. 2000. PMID: 10757638

8

Best practice guidelines for molecular analysis in spinal muscular atrophy.

Scheffer H, Cobben JM, Matthijs G, Wirth B. Scheffer H, et al. Among authors: cobben jm. Eur J Hum Genet. 2001 Jul;9(7):484-91. doi: 10.1038/sj.ejhg.5200667. Eur J Hum Genet. 2001. PMID: 11464239 Review.

9

[DNA studies in proximal spinal muscular atrophy].

Cobben JM, de Visser M, Buys CH. Cobben JM, et al. Ned Tijdschr Geneeskd. 1991 Jul 27;135(30):1340-2. Ned Tijdschr Geneeskd. 1991. PMID: 1865941 Dutch. No abstract available.

10

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

Cobben JM, van der Steege G, Grootscholten P, de Visser M, Scheffer H, Buys CH. Cobben JM, et al. Am J Hum Genet. 1995 Oct;57(4):805-8. Am J Hum Genet. 1995. PMID: 7573039 Free PMC article.

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