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Journal Abstract Search

559 related items for PubMed ID: 24585268

  • 21. Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia.
    Jelassi A, Slimani A, Jguirim I, Najah M, Maatouk F, Varret M, Slimane MN.
    Ann Clin Biochem; 2011 Jan; 48(Pt 1):83-6. PubMed ID: 21115573
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  • 25. Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia.
    Pisciotta L, Sallo R, Rabacchi C, Wunsch A, Calandra S, Bertolini S.
    Nutr Metab Cardiovasc Dis; 2012 Oct; 22(10):831-5. PubMed ID: 21920719
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  • 29. Moderate phenotypic expression of familial hypercholesterolemia in Tunisia.
    Jelassi A, Slimani A, Jguirim I, Najah M, Abid A, Boughamoura L, Mzid J, Fkih M, Maatouk F, Rouis M, Varret M, Slimane MN.
    Clin Chim Acta; 2010 May 02; 411(9-10):735-8. PubMed ID: 20144596
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  • 32. Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.
    Abifadel M, Guerin M, Benjannet S, Rabès JP, Le Goff W, Julia Z, Hamelin J, Carreau V, Varret M, Bruckert E, Tosolini L, Meilhac O, Couvert P, Bonnefont-Rousselot D, Chapman J, Carrié A, Michel JB, Prat A, Seidah NG, Boileau C.
    Atherosclerosis; 2012 Aug 02; 223(2):394-400. PubMed ID: 22683120
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  • 35. Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
    Pek SLT, Dissanayake S, Fong JCW, Lin MX, Chan EZL, Tang JI, Lee CW, Ong HY, Sum CF, Lim SC, Tavintharan S.
    Atherosclerosis; 2018 Feb 02; 269():106-116. PubMed ID: 29353225
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  • 36. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial.
    Raal FJ, Honarpour N, Blom DJ, Hovingh GK, Xu F, Scott R, Wasserman SM, Stein EA, TESLA Investigators.
    Lancet; 2015 Jan 24; 385(9965):341-50. PubMed ID: 25282520
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  • 38. Elevated plasma PCSK9 level is equally detrimental for patients with nonfamilial hypercholesterolemia and heterozygous familial hypercholesterolemia, irrespective of low-density lipoprotein receptor defects.
    Lambert G, Petrides F, Chatelais M, Blom DJ, Choque B, Tabet F, Wong G, Rye KA, Hooper AJ, Burnett JR, Barter PJ, Marais AD.
    J Am Coll Cardiol; 2014 Jun 10; 63(22):2365-73. PubMed ID: 24632287
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  • 40. Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
    van der Graaf A, Avis HJ, Kusters DM, Vissers MN, Hutten BA, Defesche JC, Huijgen R, Fouchier SW, Wijburg FA, Kastelein JJ, Wiegman A.
    Circulation; 2011 Mar 22; 123(11):1167-73. PubMed ID: 21382890
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