Buys CH - Search Results

1

van der Steege G, Schuilenga-Hut PH, Buys CH, Scheffer H, Pas HH, Jonkman MF. van der Steege G, et al. Among authors: buys ch. Nat Biotechnol. 2001 Apr;19(4):305-6. doi: 10.1038/86664. Nat Biotechnol. 2001. PMID: 11283576 No abstract available.

2

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.

Schuilenga-Hut PH, Vlies Pv, Jonkman MF, Waanders E, Buys CH, Scheffer H. Schuilenga-Hut PH, et al. Among authors: buys ch. Hum Mutat. 2003 Apr;21(4):447. doi: 10.1002/humu.9124. Hum Mutat. 2003. PMID: 12655565 Review.

3

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.

Schuilenga-Hut PH, Scheffer H, Pas HH, Nijenhuis M, Buys CH, Jonkman MF. Schuilenga-Hut PH, et al. Among authors: buys ch. J Invest Dermatol. 2002 Apr;118(4):626-30. doi: 10.1046/j.1523-1747.2002.01715.x. J Invest Dermatol. 2002. PMID: 11918708 Free article.

4

Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis.

Hut PH, v d Vlies P, Jonkman MF, Verlind E, Shimizu H, Buys CH, Scheffer H. Hut PH, et al. Among authors: buys ch. J Invest Dermatol. 2000 Apr;114(4):616-9. doi: 10.1046/j.1523-1747.2000.00928.x. J Invest Dermatol. 2000. PMID: 10733662 Free article.

5

Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa.

Scheffer H, Stulp RP, Verlind E, van der Meulen M, Bruckner-Tuderman L, Gedde-Dahl T Jr, te Meerman GJ, Sonnenberg A, Buys CH, Jonkman MF. Scheffer H, et al. Among authors: buys ch. Hum Genet. 1997 Aug;100(2):230-5. doi: 10.1007/s004390050496. Hum Genet. 1997. PMID: 9254855

6

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

7

A novel mutation (G1249R) in exon 20 of the CFTR gene.

Dijkstra DJ, Scheffer H, Buys CH. Dijkstra DJ, et al. Among authors: buys ch. Hum Mutat. 1994;4(2):161-2. doi: 10.1002/humu.1380040213. Hum Mutat. 1994. PMID: 7526929 No abstract available.

8

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.

9

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.

10

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

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