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Page 1
Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.
Durst R, Colombo R, Shpitzen S, Avi LB, Friedlander Y, Wexler R, Raal FJ, Marais DA, Defesche JC, Mandelshtam MY, Kotze MJ, Leitersdorf E, Meiner V. Durst R, et al. Among authors: defesche jc. Am J Hum Genet. 2001 May;68(5):1172-88. doi: 10.1086/320123. Epub 2001 Apr 17. Am J Hum Genet. 2001. PMID: 11309683 Free PMC article.
Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element.
Hoogendijk CF, Scholtz CL, Pimstone SM, Ehrenborg E, Kastelein JJ, Defesche JC, Thiart R, du Plessis L, de Villiers JN, Zaahl MG, Delport R, Rubinsztein DC, Raffel LJ, Grim CE, Mediene-Benchekor S, Amouyel P, Brousseau T, Steyn K, Lombard CJ, Hayden MR, Kotze MJ. Hoogendijk CF, et al. Among authors: defesche jc. Mol Cell Probes. 2003 Aug;17(4):175-81. doi: 10.1016/s0890-8508(03)00050-1. Mol Cell Probes. 2003. PMID: 12944120
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
Watts GF, Gidding S, Wierzbicki AS, Toth PP, Alonso R, Brown WV, Bruckert E, Defesche J, Lin KK, Livingston M, Mata P, Parhofer KG, Raal FJ, Santos RD, Sijbrands EJ, Simpson WG, Sullivan DR, Susekov AV, Tomlinson B, Wiegman A, Yamashita S, Kastelein JJ. Watts GF, et al. Int J Cardiol. 2014 Feb 15;171(3):309-25. doi: 10.1016/j.ijcard.2013.11.025. Epub 2013 Nov 20. Int J Cardiol. 2014. PMID: 24418289 Free article. Review.
Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation.
Watts GF, Gidding S, Wierzbicki AS, Toth PP, Alonso R, Brown WV, Bruckert E, Defesche J, Lin KK, Livingston M, Mata P, Parhofer KG, Raal FJ, Santos RD, Sijbrands EJ, Simpson WG, Sullivan DR, Susekov AV, Tomlinson B, Wiegman A, Yamashita S, Kastelein JJ. Watts GF, et al. J Clin Lipidol. 2014 Mar-Apr;8(2):148-72. doi: 10.1016/j.jacl.2014.01.002. Epub 2014 Jan 16. J Clin Lipidol. 2014. PMID: 24636175 Review.
Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.
Futema M, Shah S, Cooper JA, Li K, Whittall RA, Sharifi M, Goldberg O, Drogari E, Mollaki V, Wiegman A, Defesche J, D'Agostino MN, D'Angelo A, Rubba P, Fortunato G, Waluś-Miarka M, Hegele RA, Aderayo Bamimore M, Durst R, Leitersdorf E, Mulder MT, Roeters van Lennep JE, Sijbrands EJ, Whittaker JC, Talmud PJ, Humphries SE. Futema M, et al. Among authors: defesche j. Clin Chem. 2015 Jan;61(1):231-8. doi: 10.1373/clinchem.2014.231365. Epub 2014 Nov 20. Clin Chem. 2015. PMID: 25414277 Free PMC article.
156 results