Tholens AP - Search Results

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The Hyplip2 locus causes hypertriglyceridemia by decreased clearance of triglycerides.

Moen CJ, Tholens AP, Voshol PJ, de Haan W, Havekes LM, Gargalovic P, Lusis AJ, van Dyk KW, Frants RR, Hofker MH, Rensen PC. Moen CJ, et al. Among authors: tholens ap. J Lipid Res. 2007 Oct;48(10):2182-92. doi: 10.1194/jlr.M700009-JLR200. Epub 2007 Jul 3. J Lipid Res. 2007. PMID: 17609525 Free article.

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.

Losekoot M, Ruivenkamp CA, Tholens AP, Grimbergen JE, Vijfhuizen L, Vermeer S, Dijkman HB, Cornelissen EA, Bongers EM, Peters DJ. Losekoot M, et al. Among authors: tholens ap. J Med Genet. 2012 Jan;49(1):37-40. doi: 10.1136/jmedgenet-2011-100452. Epub 2011 Nov 23. J Med Genet. 2012. PMID: 22114106

Polycystic Kidney Disease Caused by Bilineal Inheritance of Truncating PKD1 as Well as PKD2 Mutations.

Losekoot M, Meijer E, Hagen EC, Belostotsky V, de Borst M, Tholens A, Phylipsen M, Pei Y, Gansevoort RT, Peters DJM. Losekoot M, et al. Kidney Int Rep. 2020 Jul 17;5(10):1828-1832. doi: 10.1016/j.ekir.2020.07.006. eCollection 2020 Oct. Kidney Int Rep. 2020. PMID: 33102977 Free PMC article. No abstract available.

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