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Journal Abstract Search

891 related items for PubMed ID: 22417841

  • 1. Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.
    Slimani A, Jelassi A, Jguirim I, Najah M, Rebhi L, Omezzine A, Maatouk F, Hamda KB, Kacem M, Rabès JP, Abifadel M, Boileau C, Rouis M, Slimane MN, Varret M.
    Atherosclerosis; 2012 May; 222(1):158-66. PubMed ID: 22417841
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  • 2. 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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  • 7. The contribution of PCSK9 levels to the phenotypic severity of familial hypercholesterolemia is independent of LDL receptor genotype.
    Drouin-Chartier JP, Tremblay AJ, Hogue JC, Ooi TC, Lamarche B, Couture P.
    Metabolism; 2015 Nov; 64(11):1541-7. PubMed ID: 26371983
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  • 11. Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
    Garcia-Garcia AB, Ivorra C, Martinez-Hervas S, Blesa S, Fuentes MJ, Puig O, Martín-de-Llano JJ, Carmena R, Real JT, Chaves FJ.
    Atherosclerosis; 2011 Oct; 218(2):423-30. PubMed ID: 21868016
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  • 14. 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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  • 16. A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.
    Tada H, Kawashiri MA, Ohtani R, Noguchi T, Nakanishi C, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M.
    Atherosclerosis; 2011 Dec 02; 219(2):663-6. PubMed ID: 21872251
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  • 18. Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways.
    Cameron J, Bogsrud MP, Tveten K, Strøm TB, Holven K, Berge KE, Leren TP.
    Transl Res; 2012 Aug 02; 160(2):125-30. PubMed ID: 22683370
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  • 19. 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 02; 22(10):831-5. PubMed ID: 21920719
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  • 20. 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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