Verlind E - Search Results

1

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

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. Among authors: verlind e. Hum Genet. 1992 Aug;89(6):607-11. doi: 10.1007/BF00221947. Hum Genet. 1992. PMID: 1511977

3

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: verlind e. Eur J Hum Genet. 1995;3(3):180-7. doi: 10.1159/000472293. Eur J Hum Genet. 1995. PMID: 7583043

4

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: verlind e. Hum Genet. 1995 May;95(5):589. doi: 10.1007/BF00223877. Hum Genet. 1995. PMID: 7759085 No abstract available.

5

A deletion hybrid breakpoint map of the chromosomal region 13q14-q21 orders 19 genetic markers in 10 intervals.

Kooy RF, Verlind E, Houwen RH, Shapiro DN, Hawthorn LA, Cowell JK, Scheffer H, Buys CH. Kooy RF, et al. Among authors: verlind e. Eur J Hum Genet. 1994;2(1):59-65. doi: 10.1159/000472342. Eur J Hum Genet. 1994. PMID: 7913868

6

Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13.

Kooy RF, Van der Veen AY, Verlind E, Houwen RH, Scheffer H, Buys CH. Kooy RF, et al. Among authors: verlind e. Hum Genet. 1993 Jun;91(5):504-6. doi: 10.1007/BF00217780. Hum Genet. 1993. PMID: 8314565

7

Three novel KCNA1 mutations in episodic ataxia type I families.

Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH. Scheffer H, et al. Among authors: verlind e. Hum Genet. 1998 Apr;102(4):464-6. doi: 10.1007/s004390050722. Hum Genet. 1998. PMID: 9600245

8

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. Among authors: verlind e. Hum Genet. 1990 Sep;85(4):425-7. doi: 10.1007/BF02428296. Hum Genet. 1990. PMID: 2210761

9

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: verlind e. Hum Genet. 1997 Aug;100(2):230-5. doi: 10.1007/s004390050496. Hum Genet. 1997. PMID: 9254855

10

Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.

Van Der Hout AH, Verlind E, Beemer FA, Buys CH, Hofstra RM, Scheffer H. Van Der Hout AH, et al. Among authors: verlind e. Hum Mutat. 2002 Sep;20(3):236. doi: 10.1002/humu.9061. Hum Mutat. 2002. PMID: 12204008

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