BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

237 related articles for article (PubMed ID: 11031227)

  • 1. R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.
    Rabès JP; Varret M; Devillers M; Aegerter P; Villéger L; Krempf M; Junien C; Boileau C
    Arterioscler Thromb Vasc Biol; 2000 Oct; 20(10):E76-82. PubMed ID: 11031227
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK.
    Wenham PR; Henderson BG; Penney MD; Ashby JP; Rae PW; Walker SW
    Atherosclerosis; 1997 Mar; 129(2):185-92. PubMed ID: 9105560
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Lack of phenotypic additive effect of familial defective apolipoprotein B3531 in familial hypercholesterolaemia.
    Giammanco A; Spina R; Fayer F; Barbagallo CM; Noto D; Cefalù AB; Averna MR
    Intern Med J; 2021 Apr; 51(4):585-590. PubMed ID: 33890362
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 11(3):691-703. PubMed ID: 1674216
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia.
    Miserez AR; Keller U
    Arterioscler Thromb Vasc Biol; 1995 Oct; 15(10):1719-29. PubMed ID: 7583549
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.
    Rabacchi C; Bigazzi F; Puntoni M; Sbrana F; Sampietro T; Tarugi P; Bertolini S; Calandra S
    J Clin Lipidol; 2016; 10(4):944-952.e1. PubMed ID: 27578127
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 8 Suppl 1():10-7. PubMed ID: 1505645
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 17(5):826-33. PubMed ID: 9157944
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Familial defective apolipoprotein B-100.
    Hansen PS
    Dan Med Bull; 1998 Sep; 45(4):370-82. PubMed ID: 9777289
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 47(3):438-43. PubMed ID: 11238294
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
    Saint-Jore B; Varret M; Dachet C; Rabès JP; Devillers M; Erlich D; Blanchard P; Krempf M; Mathé D; Chanu B; Jacotot B; Farnier M; Bonaïti-Péllié C; Junien C; Boileau C
    Eur J Hum Genet; 2000 Aug; 8(8):621-30. PubMed ID: 10952765
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.
    Heath KE; Gudnason V; Humphries SE; Seed M
    Atherosclerosis; 1999 Mar; 143(1):41-54. PubMed ID: 10208479
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The apolipoprotein B R3531C mutation. Characteristics of 24 subjects from 9 kindreds.
    Pullinger CR; Gaffney D; Gutierrez MM; Malloy MJ; Schumaker VN; Packard CJ; Kane JP
    J Lipid Res; 1999 Feb; 40(2):318-27. PubMed ID: 9925662
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia.
    Cheng X; Ding J; Zheng F; Zhou X; Xiong C
    Mol Biol Rep; 2009 Nov; 36(8):2053-7. PubMed ID: 19020990
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Genotype-phenotype analysis of a homozygous familial hypercholesterolemia pedigree].
    Wang DY; Zhang YM; Che FY; Chu JP; Zhang LY; Li H; Liu BL; Yao ZY; Zhao YW
    Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):101-106. PubMed ID: 32102145
    [No Abstract]   [Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a heterozygous compound individual with familial hypercholesterolemia and familial defective apolipoprotein B-100.
    Rauh G; Schuster H; Fischer J; Keller C; Wolfram G; Zöllner N
    Klin Wochenschr; 1991 May; 69(7):320-4. PubMed ID: 2067318
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.