Wanders RJA - Search Results

1

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.

Zeharia A, Ebberink MS, Wanders RJA, Waterham HR, Gutman A, Nissenkorn A, Korman SH. Zeharia A, et al. Among authors: wanders rja. J Hum Genet. 2007;52(7):599-606. doi: 10.1007/s10038-007-0157-y. Epub 2007 May 30. J Hum Genet. 2007. PMID: 17534573

2

Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study.

Heikoop JC, Wanders RJ, Strijland A, Purvis R, Schutgens RB, Tager JM. Heikoop JC, et al. Hum Genet. 1992 Jun;89(4):439-44. doi: 10.1007/BF00194319. Hum Genet. 1992. PMID: 1618493

3

Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes.

Tager JM, Brul S, Wiemer EA, Strijland A, Van Driel R, Schutgens RB, Van den Bosch H, Wanders RJ, Westerveld A. Tager JM, et al. Prog Clin Biol Res. 1990;321:545-58. Prog Clin Biol Res. 1990. PMID: 2183242

4

Postnatal diagnosis of peroxisomal disorders: a biochemical approach.

Wanders RJ, Schutgens RB, Barth PG, Tager JM, van den Bosch H. Wanders RJ, et al. Biochimie. 1993;75(3-4):269-79. doi: 10.1016/0300-9084(93)90087-9. Biochimie. 1993. PMID: 7685190 Review.

5

Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients.

Wanders RJ, Dekker C, Ofman R, Schutgens RB, Mooijer P. Wanders RJ, et al. J Inherit Metab Dis. 1995;18 Suppl 1:101-12. doi: 10.1007/BF00711433. J Inherit Metab Dis. 1995. PMID: 9053545

6

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

Jansen GA, Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, Skjeldal OH, Stokke O, Jakobs C, Besley GT, Wraith JE, Wanders RJ. Jansen GA, et al. Nat Genet. 1997 Oct;17(2):190-3. doi: 10.1038/ng1097-190. Nat Genet. 1997. PMID: 9326940

7

Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.

Huizing M, Iacobazzi V, Ijlst L, Savelkoul P, Ruitenbeek W, van den Heuvel L, Indiveri C, Smeitink J, Trijbels F, Wanders R, Palmieri F. Huizing M, et al. Am J Hum Genet. 1997 Dec;61(6):1239-45. doi: 10.1086/301628. Am J Hum Genet. 1997. PMID: 9399886 Free PMC article.

8

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.

Ofman R, Hettema EH, Hogenhout EM, Caruso U, Muijsers AO, Wanders RJ. Ofman R, et al. Hum Mol Genet. 1998 May;7(5):847-53. doi: 10.1093/hmg/7.5.847. Hum Mol Genet. 1998. PMID: 9536089

9

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. Waterham HR, et al. Am J Hum Genet. 1998 Aug;63(2):329-38. doi: 10.1086/301982. Am J Hum Genet. 1998. PMID: 9683613 Free PMC article.

10

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

IJlst L, Mandel H, Oostheim W, Ruiter JP, Gutman A, Wanders RJ. IJlst L, et al. J Clin Invest. 1998 Aug 1;102(3):527-31. doi: 10.1172/JCI2927. J Clin Invest. 1998. PMID: 9691089 Free PMC article.

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