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Journal Abstract Search

205 related items for PubMed ID: 11222161

  • 1. [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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  • 2. [Familial defect of apo B-100 in subjects with clinically diagnosed primary hypercholesterolemia: identification of the first family with this disorder in Spain].
    Real JT, Chaves JF, Ascaso JF, Armengod ME, Carmena R.
    Med Clin (Barc); 1999 Jun 12; 113(1):15-7. PubMed ID: 10422071
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  • 3. 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 12; 151(3):162-7. PubMed ID: 18279815
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  • 4. Familial defective apolipoprotein B-100.
    Hansen PS.
    Dan Med Bull; 1998 Sep 12; 45(4):370-82. PubMed ID: 9777289
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  • 5. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov 12; 49(4):318-45. PubMed ID: 12553167
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  • 6. 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 12; 8 Suppl 1():10-7. PubMed ID: 1505645
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  • 7. 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 12; 47(3):438-43. PubMed ID: 11238294
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  • 9. [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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  • 11. 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 09; 11(12):959-65. PubMed ID: 14508510
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  • 12. 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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  • 13. Familial hypercholesterolemia and familial defective apolipoprotein B-100: comparison of the phenotypic expression In 116 cases.
    Brugger D, Schuster H, Zöllner N.
    Eur J Med Res; 1996 May 24; 1(8):383-6. PubMed ID: 9360938
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  • 14. Familial defective apolipoprotein B-100 (R3500Q) in Northern Ireland.
    McClean E, Graham CA, Ward AJ, Young IS, Martin S, Nicholls DP.
    Br J Biomed Sci; 1999 May 24; 56(4):258-62. PubMed ID: 10795369
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  • 17. Statin therapy in a kindred with both apolipoprotein B and low density lipoprotein receptor gene defects.
    Raal FJ, Pilcher G, Rubinsztein DC, Lingenhel A, Utermann G.
    Atherosclerosis; 1997 Feb 28; 129(1):97-102. PubMed ID: 9069523
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  • 18. Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.
    Thiart R, Varret M, Lintott CJ, Scott RS, Loubser O, du Plessis L, de Villiers JN, Boileau C, Kotze MJ.
    Mol Cell Probes; 2000 Oct 28; 14(5):299-304. PubMed ID: 11040093
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  • 19. Clinical signs of familial hypercholesterolemia in patients with familial defective apolipoprotein B-100 and normal low density lipoprotein receptor function.
    Myant NB, Gallagher JJ, Knight BL, McCarthy SN, Frostegård J, Nilsson J, Hamsten A, Talmud P, Humphries SE.
    Arterioscler Thromb; 1991 Oct 28; 11(3):691-703. PubMed ID: 1674216
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  • 20. 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 28; 194(2):e95-107. PubMed ID: 17194460
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