Ebberink MS - Search Results

1

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E. Barøy T, et al. Among authors: ebberink ms. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28. Hum Mol Genet. 2015. PMID: 26220973

2

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: ebberink ms. 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

3

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Ebberink MS, Mooyer PA, Koster J, Dekker CJ, Eyskens FJ, Dionisi-Vici C, Clayton PT, Barth PG, Wanders RJ, Waterham HR. Ebberink MS, et al. Hum Mutat. 2009 Jan;30(1):93-8. doi: 10.1002/humu.20833. Hum Mutat. 2009. PMID: 18712838

4

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

Ebberink MS, Kofster J, Wanders RJ, Waterham HR. Ebberink MS, et al. Hum Mutat. 2010 Jan;31(1):E1058-70. doi: 10.1002/humu.21153. Hum Mutat. 2010. PMID: 19877282

5

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.

Dursun A, Gucer S, Ebberink MS, Yigit S, Wanders RJ, Waterham HR. Dursun A, et al. Among authors: ebberink ms. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S345-8. doi: 10.1007/s10545-009-9010-0. Epub 2009 Dec 23. J Inherit Metab Dis. 2009. PMID: 20033294 Review.

6

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.

Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PA, Dekker CJ, Spooner C, Ngu LH, De Sousa C, Wanders RJ, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S. Ebberink MS, et al. J Med Genet. 2010 Sep;47(9):608-15. doi: 10.1136/jmg.2009.074302. Epub 2010 Jul 20. J Med Genet. 2010. PMID: 20647552 Free article.

7

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.

Mohamed S, El-Meleagy E, Nasr A, Ebberink MS, Wanders RJ, Waterham HR. Mohamed S, et al. Among authors: ebberink ms. Am J Med Genet A. 2010 Sep;152A(9):2318-21. doi: 10.1002/ajmg.a.33560. Am J Med Genet A. 2010. PMID: 20683989

8

Mutations in PEX10 are a cause of autosomal recessive ataxia.

Régal L, Ebberink MS, Goemans N, Wanders RJ, De Meirleir L, Jaeken J, Schrooten M, Van Coster R, Waterham HR. Régal L, et al. Among authors: ebberink ms. Ann Neurol. 2010 Aug;68(2):259-63. doi: 10.1002/ana.22035. Ann Neurol. 2010. PMID: 20695019 Review.

9

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Ebberink MS, Mooijer PA, Gootjes J, Koster J, Wanders RJ, Waterham HR. Ebberink MS, et al. Hum Mutat. 2011 Jan;32(1):59-69. doi: 10.1002/humu.21388. Hum Mutat. 2011. PMID: 21031596

10

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.

Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock JM, Kemp S, Wanders RJ, Waterham HR. Ebberink MS, et al. J Med Genet. 2012 May;49(5):307-13. doi: 10.1136/jmedgenet-2012-100778. J Med Genet. 2012. PMID: 22581968

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