Te Velde K - Search Results

1

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.

Rosipal R, Lamoril J, Puy H, Da Silva V, Gouya L, De Rooij FW, Te Velde K, Nordmann Y, Martàsek P, Deybach JC. Rosipal R, et al. Among authors: te velde k. Hum Mutat. 1999;13(1):44-53. doi: 10.1002/(SICI)1098-1004(1999)13:1<44::AID-HUMU5>3.0.CO;2-Q. Hum Mutat. 1999. PMID: 9888388

2

High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.

Gu XF, de Rooij F, Voortman G, Te Velde K, Nordmann Y, Grandchamp B. Gu XF, et al. Among authors: te velde k. Am J Hum Genet. 1992 Sep;51(3):660-5. Am J Hum Genet. 1992. PMID: 1496994 Free PMC article.

3

High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria.

Gu XF, de Rooij F, Lee JS, Te Velde K, Deybach JC, Nordmann Y, Grandchamp B. Gu XF, et al. Among authors: te velde k. Hum Genet. 1993 Mar;91(2):128-30. doi: 10.1007/BF00222712. Hum Genet. 1993. PMID: 8096492

4

Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis.

Gu XF, de Rooij F, Voortman G, Te Velde K, Deybach JC, Nordmann Y, Grandchamp B. Gu XF, et al. Among authors: te velde k. Hum Genet. 1994 Jan;93(1):47-52. doi: 10.1007/BF00218912. Hum Genet. 1994. PMID: 8270254

5

Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria.

van Tuyll van Serooskerken AM, de Rooij FW, Edixhoven A, Bladergroen RS, Baron JM, Joussen S, Merk HF, Steijlen PM, Poblete-Gutiérrez P, te Velde K, Wilson JH, Koole RH, van Geel M, Frank J. van Tuyll van Serooskerken AM, et al. Among authors: te velde k. J Invest Dermatol. 2011 Nov;131(11):2249-54. doi: 10.1038/jid.2011.186. Epub 2011 Jul 7. J Invest Dermatol. 2011. PMID: 21734717 Free article.

6

Tissue-specific splicing mutation in acute intermittent porphyria.

Grandchamp B, Picat C, Mignotte V, Wilson JH, Te Velde K, Sandkuyl L, Roméo PH, Goossens M, Nordmann Y. Grandchamp B, et al. Among authors: te velde k. Proc Natl Acad Sci U S A. 1989 Jan;86(2):661-4. doi: 10.1073/pnas.86.2.661. Proc Natl Acad Sci U S A. 1989. PMID: 2563167 Free PMC article.

7

Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.

van Tuyll van Serooskerken AM, Drögemöller BI, Te Velde K, Bladergroen RS, Steijlen PM, Poblete-Gutiérrez P, van Geel M, van Heerden CJ, Warnich L, Frank J. van Tuyll van Serooskerken AM, et al. Among authors: te velde k. Br J Dermatol. 2012 Feb;166(2):261-5. doi: 10.1111/j.1365-2133.2011.10606.x. Br J Dermatol. 2012. PMID: 21910705

8

[A patient with acute porphyria].

te Velde K, Wilson JH. te Velde K, et al. Ned Tijdschr Geneeskd. 1985 Nov 9;129(45):2174-6. Ned Tijdschr Geneeskd. 1985. PMID: 4080010 Dutch. No abstract available.

9

[A family study of the initial Dutch patients with porphyria].

te Velde K, Noordhoek KH, Wilson JH, de Roody FW. te Velde K, et al. Ned Tijdschr Geneeskd. 1989 Dec 23;133(51):2547-52. Ned Tijdschr Geneeskd. 1989. PMID: 2601755 Dutch.

10

Acute intermittent porphyria in The Netherlands. Heterogeneity of the enzyme porphobilinogen deaminase.

Wilson JH, De Rooy FW, Te Velde K. Wilson JH, et al. Among authors: te velde k. Neth J Med. 1986;29(11):393-9. Neth J Med. 1986. PMID: 3808142 No abstract available.

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