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Journal Abstract Search

210 related items for PubMed ID: 9568744

  • 1. Hypobetalipoproteinemia associated with apo B-48.4, a truncated protein only 14 amino acids longer than apo B-48.
    Ruotolo G, Zanelli T, Tettamanti C, Ragogna F, Parlavecchia M, Viganò F, Catapano AL.
    Atherosclerosis; 1998 Mar; 137(1):125-31. PubMed ID: 9568744
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  • 3. Clinical characterization of a case with familial hypobetalipoproteinemia caused by apo B-76, a new truncation of apolipoprotein B, combined with apo E2/E2 phenotype.
    Takahashi K, Hikita M, Taira K, Kobayashi J, Bujo H, Saito Y.
    Intern Med; 2001 Oct; 40(10):1015-9. PubMed ID: 11688825
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  • 4. Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.
    Young SG, Hubl ST, Smith RS, Snyder SM, Terdiman JF.
    J Clin Invest; 1990 Mar; 85(3):933-42. PubMed ID: 2312735
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  • 5. A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.
    Welty FK, Hubl ST, Pierotti VR, Young SG.
    J Clin Invest; 1991 May; 87(5):1748-54. PubMed ID: 2022744
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  • 6. Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100.
    Young SG, Bertics SJ, Curtiss LK, Dubois BW, Witztum JL.
    J Clin Invest; 1987 Jun; 79(6):1842-51. PubMed ID: 3473077
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  • 7. A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100.
    Nanjee MN, Stocks J, Cooke CJ, Molhuizen HO, Marcovina S, Crook D, Kastelein JP, Miller NE.
    Atherosclerosis; 2003 Sep; 170(1):105-13. PubMed ID: 12957688
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  • 8. Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length.
    Young SG, Pullinger CR, Zysow BR, Hofmann-Radvani H, Linton MF, Farese RV, Terdiman JF, Snyder SM, Grundy SM, Vega GL.
    J Lipid Res; 1993 Mar; 34(3):501-7. PubMed ID: 8468533
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  • 9. Dual mechanisms for the low plasma levels of truncated apolipoprotein B proteins in familial hypobetalipoproteinemia. Analysis of a new mouse model with a nonsense mutation in the Apob gene.
    Kim E, Cham CM, Véniant MM, Ambroziak P, Young SG.
    J Clin Invest; 1998 Mar 15; 101(6):1468-77. PubMed ID: 9502790
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  • 10. Apolipoprotein B-containing lipoproteins in renal failure: the relation to mode of dialysis.
    Attman PO, Samuelsson OG, Moberly J, Johansson AC, Ljungman S, Weiss LG, Knight-Gibson C, Alaupovic P.
    Kidney Int; 1999 Apr 15; 55(4):1536-42. PubMed ID: 10201020
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  • 12. Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2.
    Young SG, Bihain B, Flynn LM, Sanan DA, Ayrault-Jarrier M, Jacotot B.
    Hum Mol Genet; 1994 May 15; 3(5):741-4. PubMed ID: 8081360
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  • 13. Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia.
    Elias N, Patterson BW, Schonfeld G.
    Arterioscler Thromb Vasc Biol; 1999 Nov 15; 19(11):2714-21. PubMed ID: 10559016
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  • 14. Variability gene effects of DNA polymorphisms at the apo B, apo A I/C III and apo E loci on serum lipids: the Cardiovascular Risk in Young Finns Study.
    Porkka KV, Taimela S, Kontula K, Lehtimäki T, Aalto-Setälä K, Akerblom HK, Viikari JS.
    Clin Genet; 1994 Mar 15; 45(3):113-21. PubMed ID: 7913004
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  • 15. Homozygous hypobetalipoproteinemia with spared chylomicron formation.
    Harano Y, Kojima H, Nakano T, Harada M, Kashiwagi A, Nakajima Y, Hidaka TH, Ohtsuki T, Suzuki T, Tamura A.
    Metabolism; 1989 Jan 15; 38(1):1-7. PubMed ID: 2909827
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  • 16. Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia.
    Krul ES, Kinoshita M, Talmud P, Humphries SE, Turner S, Goldberg AC, Cook K, Boerwinkle E, Schonfeld G.
    Arteriosclerosis; 1989 Jan 15; 9(6):856-68. PubMed ID: 2574033
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  • 18. Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia.
    Conca P, Pileggi S, Simonelli S, Boer E, Boscutti G, Magnolo L, Tarugi P, Penco S, Franceschini G, Calabresi L, Gomaraschi M.
    J Clin Lipidol; 2012 Jan 15; 6(3):244-50. PubMed ID: 22658148
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  • 20. Plasma lipids, lipoproteins and apolipoproteins in two kindreds of hypobetalipoproteinemia.
    Lontie JF, Malmendier CL, Serougne C, Dubois DY, Dachet C, Ferezou J, Mathé D.
    Atherosclerosis; 1990 Aug 15; 83(2-3):187-96. PubMed ID: 2242096
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