Scheffer H - 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: scheffer h. Hum Genet. 1995 Nov;96(5):589-91. doi: 10.1007/BF00197416. Hum Genet. 1995. PMID: 8530008

2

Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene.

Scheffer H, Houwen RH, Te Meerman GJ, Loessner J, Bachmann B, Kunert E, Verlind E, Buys CH. Scheffer H, et al. Hum Genet. 1992 Aug;89(6):607-11. doi: 10.1007/BF00221947. Hum Genet. 1992. PMID: 1511977

3

Close linkage of the Wilson's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14.

Houwen RH, Scheffer H, te Meerman GJ, van der Vlies P, Buys CH. Houwen RH, et al. Among authors: scheffer h. Hum Genet. 1990 Oct;85(5):560-2. doi: 10.1007/BF00194238. Hum Genet. 1990. PMID: 2227943

4

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. Am J Hum Genet. 1989 Aug;45(2):252-60. Am J Hum Genet. 1989. PMID: 2569269 Free PMC article.

5

Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease.

Scheffer H, Kema IP, Kondo I, van der Veen AY, Ikeuchi T, Buys CH. Scheffer H, et al. Hum Genet. 1987 Dec;77(4):335-7. doi: 10.1007/BF00291421. Hum Genet. 1987. PMID: 2891602

6

A provisional transcript map of the spinal muscular atrophy (SMA) critical region.

van der Steege G, Draaijers TG, Grootscholten PM, Osinga J, Anzevino R, Velonà I, Den Dunnen JT, Scheffer H, Brahe C, van Ommen GJ, et al. van der Steege G, et al. Among authors: scheffer h. Eur J Hum Genet. 1995;3(2):87-95. doi: 10.1159/000472281. Eur J Hum Genet. 1995. PMID: 7552146

7

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: scheffer h. Am J Hum Genet. 1995 Oct;57(4):805-8. Am J Hum Genet. 1995. PMID: 7573039 Free PMC article.

8

An integrated map of human chromosome 13 allowing regional localization of genetic markers.

Kooy RF, Wijngaard A, Verlind E, Scheffer H, Buys CH. Kooy RF, et al. Among authors: scheffer h. Eur J Hum Genet. 1995;3(3):180-7. doi: 10.1159/000472293. Eur J Hum Genet. 1995. PMID: 7583043

9

A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WND.

Kooy RF, Verlind E, Wijngaard A, Shapiro DN, Scheffer H, Buys CH. Kooy RF, et al. Among authors: scheffer h. Hum Genet. 1995 May;95(5):589. doi: 10.1007/BF00223877. Hum Genet. 1995. PMID: 7759085 No abstract available.

10

The EUROGEM map of human chromosome 13.

Kooy RF, Wijngaard A, Verlind E, Vergnaud G, Scheffer H, Buys CH. Kooy RF, et al. Among authors: scheffer h. Eur J Hum Genet. 1994;2(3):228-9. Eur J Hum Genet. 1994. PMID: 7834293 No abstract available.

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