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260 related items for PubMed ID: 18279815

  • 1. Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.
    Ejarque I, Real JT, Martinez-Hervas S, Chaves FJ, Blesa S, Garcia-Garcia AB, Millan E, Ascaso JF, Carmena R.
    Transl Res; 2008 Mar; 151(3):162-7. PubMed ID: 18279815
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  • 2. Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
    Real JT, Chaves FJ, Ejarque I, García-García AB, Valldecabres C, Ascaso JF, Armengod ME, Carmena R.
    Eur J Hum Genet; 2003 Dec; 11(12):959-65. PubMed ID: 14508510
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  • 3. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
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  • 4. Familial defective apolipoprotein B-100: A review.
    Andersen LH, Miserez AR, Ahmad Z, Andersen RL.
    J Clin Lipidol; 2016 Nov; 10(6):1297-1302. PubMed ID: 27919345
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  • 5. [Clinical and biochemical characteristics of familial ligand-defective apo B-100 in a South European population].
    Ejarque I, Real JT, Chaves FJ, Blesa S, González V, Milian E, Ascaso JF, Priego MA, Carmena R.
    Med Clin (Barc); 2004 Oct 09; 123(12):456-9. PubMed ID: 15498441
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  • 6. VLDL and IDL apolipoprotein B-100 kinetics in familial hypercholesterolemia due to impaired LDL receptor function or to defective apolipoprotein B-100.
    Zulewski H, Ninnis R, Miserez AR, Baumstark MW, Keller U.
    J Lipid Res; 1998 Feb 09; 39(2):380-7. PubMed ID: 9507998
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  • 7. Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia.
    Pimstone SN, Defesche JC, Clee SM, Bakker HD, Hayden MR, Kastelein JJ.
    Arterioscler Thromb Vasc Biol; 1997 May 09; 17(5):826-33. PubMed ID: 9157944
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  • 9. [Identification and characterization of the first Spanish familial ligand-defective apolipoprotein B homozygote].
    Ejarque I, Civer M, Francisco Ascaso J, Knecht E, Eugenia Armengod M, Carmen R, Tomás Real J, Francisco Chaves J, Javier Martín De Llano J.
    Med Clin (Barc); 2001 Feb 03; 116(4):138-41. PubMed ID: 11222161
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  • 10. Phenotypic heterogeneity associated with defective apolipoprotein B-100 and occurrence of the familial hypercholesterolemia phenotype in the absence of an LDL-receptor defect within a Canadian kindred.
    Davignon J, Dufour R, Roy M, Bétard C, Ma Y, Ouellette S, Boulet L, Lussier-Cacan S.
    Eur J Epidemiol; 1992 May 03; 8 Suppl 1():10-7. PubMed ID: 1505645
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  • 12. Molecular genetics of familial hypercholesterolemia in Israel-revisited.
    Durst R, Ibe UK, Shpitzen S, Schurr D, Eliav O, Futema M, Whittall R, Szalat A, Meiner V, Knobler H, Gavish D, Henkin Y, Ellis A, Rubinstein A, Harats D, Bitzur R, Hershkovitz B, Humphries SE, Leitersdorf E.
    Atherosclerosis; 2017 Feb 03; 257():55-63. PubMed ID: 28104544
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  • 14. Cascade Screening for Familial Hypercholesterolemia in South Africa: The Wits FIND-FH Program.
    Raal FJ, Bahassi EM, Stevens B, Turner TA, Stein EA.
    Arterioscler Thromb Vasc Biol; 2020 Nov 03; 40(11):2747-2755. PubMed ID: 32878475
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  • 15. DIAgnosis and Management Of familial hypercholesterolemia in a Nationwide Design (DIAMOND-FH): Prevalence in Switzerland, clinical characteristics and the diagnostic value of clinical scores.
    Miserez AR, Martin FJ, Spirk D.
    Atherosclerosis; 2018 Oct 03; 277():282-288. PubMed ID: 30270060
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  • 16. Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.
    Tai ES, Koay ES, Chan E, Seng TJ, Loh LM, Sethi SK, Tan CE.
    Clin Chem; 2001 Mar 03; 47(3):438-43. PubMed ID: 11238294
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  • 17. Familial defective apolipoprotein B-100 in Slovakia: are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity?
    Gasparovic J, Basistová Z, Fábryová L, Wsólová L, Vohnout B, Raslová K, Slovak MED PED FH group.
    Atherosclerosis; 2007 Oct 03; 194(2):e95-107. PubMed ID: 17194460
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  • 18. The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia.
    Castillo S, Tejedor D, Mozas P, Reyes G, Civeira F, Alonso R, Ros E, Pocoví M, Mata P.
    Atherosclerosis; 2002 Nov 03; 165(1):127-35. PubMed ID: 12208478
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  • 19. Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.
    Haddad L, Day IN, Hunt S, Williams RR, Humphries SE, Hopkins PN.
    J Lipid Res; 1999 Jun 03; 40(6):1113-22. PubMed ID: 10357843
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  • 20. Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100.
    Rubinsztein DC, Raal FJ, Seftel HC, Pilcher G, Coetzee GA, van der Westhuyzen DR.
    Arterioscler Thromb; 1993 Jul 03; 13(7):1076-81. PubMed ID: 8318509
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