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348 related items for PubMed ID: 25463123

  • 1. Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.
    Mollaki V, Progias P, Drogari E.
    Atherosclerosis; 2014 Dec; 237(2):798-804. PubMed ID: 25463123
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  • 3. Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.
    Miltiadous G, Elisaf M, Bairaktari H, Xenophontos SL, Manoli P, Cariolou MA.
    Hum Mutat; 2001 May; 17(5):432-3. PubMed ID: 11317361
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  • 5. The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
    Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L.
    Atherosclerosis; 2012 Aug; 223(2):401-8. PubMed ID: 22698793
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  • 11. The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.
    Shawar SM, Al-Drees MA, Ramadan AR, Ali NH, Alfadhli SM.
    Atherosclerosis; 2012 Feb; 220(2):429-36. PubMed ID: 22129472
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  • 12. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].
    Liu YR, Tao QM, Chen JZ, Tao M, Guo XG, Shang YP, Zhu JH, Zhang FR, Zheng LR, Wang XX.
    Sheng Li Xue Bao; 2004 Oct 25; 56(5):566-72. PubMed ID: 15497035
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  • 14. FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.
    Dedoussis GV, Skoumas J, Pitsavos C, Choumerianou DM, Genschel J, Schmidt H, Stefanadis C.
    Eur J Clin Invest; 2004 Jun 25; 34(6):402-9. PubMed ID: 15200491
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  • 15. Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia.
    Junyent M, Gilabert R, Jarauta E, Núñez I, Cofán M, Civeira F, Pocoví M, Mallén M, Zambón D, Almagro F, Vega J, Tejedor D, Ros E.
    Atherosclerosis; 2010 Feb 25; 208(2):437-41. PubMed ID: 19717150
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  • 16. Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.
    Vaca G, Vàzquez A, Magaña MT, Ramìrez ML, Dàvalos IP, Martìnez E, Marìn B, Carrillo G.
    Atherosclerosis; 2011 Oct 25; 218(2):391-6. PubMed ID: 21722902
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  • 17. Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations.
    Torres AL, Moorjani S, Vohl MC, Gagné C, Lamarche B, Brun LD, Lupien PJ, Després JP.
    Atherosclerosis; 1996 Sep 27; 126(1):163-71. PubMed ID: 8879444
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