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Journal Abstract Search

233 related items for PubMed ID: 25378237

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  • 2. Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
    Etxebarria A, Benito-Vicente A, Stef M, Ostolaza H, Palacios L, Martin C.
    Atherosclerosis; 2015 Feb; 238(2):304-12. PubMed ID: 25545329
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  • 4. Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).
    Schaefer JR, Kurt B, Sattler A, Klaus G, Soufi M.
    Clin Res Cardiol Suppl; 2012 Jun; 7(Suppl 1):2-6. PubMed ID: 22528129
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  • 5. Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
    Etxebarria A, Palacios L, Stef M, Tejedor D, Uribe KB, Oleaga A, Irigoyen L, Torres B, Ostolaza H, Martin C.
    Hum Mutat; 2012 Jan; 33(1):232-43. PubMed ID: 21990180
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  • 7. Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia.
    Miltiadous G, Xenophontos S, Bairaktari E, Ganotakis M, Cariolou M, Elisaf M.
    Pharmacogenet Genomics; 2005 Apr; 15(4):219-25. PubMed ID: 15864114
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  • 8. Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity.
    Banerjee P, Chan KC, Tarabocchia M, Benito-Vicente A, Alves AC, Uribe KB, Bourbon M, Skiba PJ, Pordy R, Gipe DA, Gaudet D, Martin C.
    Arterioscler Thromb Vasc Biol; 2019 Nov; 39(11):2248-2260. PubMed ID: 31578082
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  • 10. Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.
    Chaves FJ, Real JT, García-García AB, Civera M, Armengod ME, Ascaso JF, Carmena R.
    J Clin Endocrinol Metab; 2001 Oct; 86(10):4926-32. PubMed ID: 11600564
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  • 15. Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
    Galicia-Garcia U, Benito-Vicente A, Uribe KB, Jebari S, Larrea-Sebal A, Alonso-Estrada R, Aguilo-Arce J, Ostolaza H, Palacios L, Martin C.
    Sci Rep; 2020 Feb 03; 10(1):1727. PubMed ID: 32015373
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  • 17. p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro.
    Benito-Vicente A, Siddiqi H, Uribe KB, Jebari S, Galicia-Garcia U, Larrea-Sebal A, Stef M, Ostolaza H, Palacios L, Martin C.
    Sci Rep; 2018 Nov 09; 8(1):16614. PubMed ID: 30413722
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