Scheffer H - Search Results

1

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

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

Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28.

van Essen AJ, Kok K, van den Berg A, de Jong B, Stellink F, Bos AF, Scheffer H, Buys CH. van Essen AJ, et al. Among authors: scheffer h. Hum Genet. 1991 Jun;87(2):151-4. doi: 10.1007/BF00204171. Hum Genet. 1991. PMID: 2066102 Review.

4

Frequency of the delta F508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without delta F508 still in disequilibrium.

Scheffer H, Bruinvels DJ, te Meerman GJ, Verlind E, Penninga D, Dankert J, Ten Kate LP, Buys CH. Scheffer H, et al. Hum Genet. 1990 Sep;85(4):425-7. doi: 10.1007/BF02428296. Hum Genet. 1990. PMID: 2210761

5

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.

6

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

7

Eight closely linked loci place the Wilson disease locus within 13q14-q21.

Bowcock AM, Farrer LA, Hebert JM, Agger M, Sternlieb I, Scheinberg IH, Buys CH, Scheffer H, Frydman M, Chajek-Saul T, et al. Bowcock AM, et al. Among authors: scheffer h. Am J Hum Genet. 1988 Nov;43(5):664-74. Am J Hum Genet. 1988. PMID: 3189332 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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