Buys CH - Search Results

1

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. Among authors: buys ch. Am J Hum Genet. 1995 Oct;57(4):805-8. Am J Hum Genet. 1995. PMID: 7573039 Free PMC article.

2

Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RB1 gene.

Scheffer H, te Meerman GJ, Kruize YC, van den Berg AH, Penninga DP, Tan KE, der Kinderen DJ, Buys CH. Scheffer H, et al. Among authors: buys ch. Am J Hum Genet. 1989 Aug;45(2):252-60. Am J Hum Genet. 1989. PMID: 2569269 Free PMC article.

3

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: buys ch. Genomics. 1994 Jul 1;22(1):219-22. doi: 10.1006/geno.1994.1367. Genomics. 1994. PMID: 7959774

4

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: buys ch. 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.

5

Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis.

Brahe C, Velonà I, van der Steege G, Zappata S, van de Veen AY, Osinga J, Tops CM, Fodde R, Khan PM, Buys CH, et al. Brahe C, et al. Among authors: buys ch. Hum Genet. 1994 May;93(5):494-501. doi: 10.1007/BF00202811. Hum Genet. 1994. PMID: 8168823

6

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. Among authors: buys ch. Neuromuscul Disord. 1993 Jul;3(4):327-33. doi: 10.1016/0960-8966(93)90026-g. Neuromuscul Disord. 1993. PMID: 8268730

7

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: buys ch. Hum Genet. 1995 Nov;96(5):589-91. doi: 10.1007/BF00197416. Hum Genet. 1995. PMID: 8530008

8

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: buys ch. Am J Hum Genet. 1996 Oct;59(4):834-8. Am J Hum Genet. 1996. PMID: 8808598 Free PMC article.

9

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. Among authors: buys ch. Eur J Hum Genet. 1996;4(4):231-6. Eur J Hum Genet. 1996. PMID: 8875190

10

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: buys ch. Eur J Hum Genet. 2000 Feb;8(2):79-86. doi: 10.1038/sj.ejhg.5200404. Eur J Hum Genet. 2000. PMID: 10757638

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