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870 related items for PubMed ID: 7630677

  • 1. Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population.
    Assouline L, Levy E, Feoli-Fonseca JC, Godbout C, Lambert M.
    Pediatrics; 1995 Aug; 96(2 Pt 1):239-46. PubMed ID: 7630677
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studies.
    Assouline L, Leitersdorf E, Lambert M, Reshef A, Feoli-Fonseca JC, Levy E.
    Hum Mutat; 1997 Nov; 9(6):555-62. PubMed ID: 9195230
    [Abstract] [Full Text] [Related]

  • 4. Effect of apolipoprotein E genotype on lipid levels and response to diet in familial hypercholesterolemia.
    Carmena-Ramón R, Real JT, Ascaso JF, Ordovás JM, Carmena R.
    Nutr Metab Cardiovasc Dis; 2000 Feb; 10(1):7-13. PubMed ID: 10812582
    [Abstract] [Full Text] [Related]

  • 5. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
    Wang J, Huff E, Janecka L, Hegele RA.
    Hum Mutat; 2001 Oct; 18(4):359. PubMed ID: 11668627
    [Abstract] [Full Text] [Related]

  • 6. FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.
    Dedoussis GV, Skoumas J, Pitsavos C, Choumerianou DM, Genschel J, Schmidt H, Stefanadis C.
    Eur J Clin Invest; 2004 Jun; 34(6):402-9. PubMed ID: 15200491
    [Abstract] [Full Text] [Related]

  • 7. HDL cholesterol levels in patients with molecularly defined familial hypercholesterolemia.
    Miltiadous G, Cariolou MA, Elisaf M.
    Ann Clin Lab Sci; 2002 Jun; 32(1):50-4. PubMed ID: 11848618
    [Abstract] [Full Text] [Related]

  • 8. Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.
    Soutar AK, McCarthy SN, Seed M, Knight BL.
    J Clin Invest; 1991 Aug; 88(2):483-92. PubMed ID: 1830890
    [Abstract] [Full Text] [Related]

  • 9. [Direct detection of mutations in the LDL receptor gene in patients with familial hypercholesterolemia].
    Freiberger T, Kuhrová V, Kozák L, Soska V, Pekarík V, Mĕrínská L, Fajkusová L, Francová H.
    Cas Lek Cesk; 1998 Dec 14; 137(24):750-2. PubMed ID: 10081189
    [Abstract] [Full Text] [Related]

  • 10. Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations.
    Tybjaerg-Hansen A, Jensen HK, Benn M, Steffensen R, Jensen G, Nordestgaard BG.
    Arterioscler Thromb Vasc Biol; 2005 Jan 14; 25(1):211-5. PubMed ID: 15528480
    [Abstract] [Full Text] [Related]

  • 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 14; 11(12):959-65. PubMed ID: 14508510
    [Abstract] [Full Text] [Related]

  • 12. Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations.
    Torres AL, Moorjani S, Vohl MC, Gagné C, Lamarche B, Brun LD, Lupien PJ, Després JP.
    Atherosclerosis; 1996 Sep 27; 126(1):163-71. PubMed ID: 8879444
    [Abstract] [Full Text] [Related]

  • 13. A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease.
    Castillo S, Reyes G, Tejedor D, Mozas P, Suarez Y, Lasuncion MA, Cenarro A, Civeira F, Alonso R, Mata P, Pocovi M, Spanish Group of FH.
    Hum Mutat; 2002 Dec 27; 20(6):477. PubMed ID: 12442279
    [Abstract] [Full Text] [Related]

  • 14. Familial defective apolipoprotein B-100.
    Hansen PS.
    Dan Med Bull; 1998 Sep 27; 45(4):370-82. PubMed ID: 9777289
    [Abstract] [Full Text] [Related]

  • 15. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.
    Wang D, Wu B, Li Y, Heng W, Zhong H, Mu Y, Wang J.
    J Hum Genet; 2001 Sep 27; 46(3):152-4. PubMed ID: 11310584
    [Abstract] [Full Text] [Related]

  • 16. Lipid results of partial ileal bypass in patients with heterozygous, type II-A hyperlipoproteinemia. Program on the Surgical Control of the Hyperlipidemias.
    Campos CT, Matts JP, Fitch LL, Speech JC, Long JM, Buchwald H.
    Surgery; 1990 Oct 27; 108(4):601-10; discussion 610-1. PubMed ID: 2120785
    [Abstract] [Full Text] [Related]

  • 17. Treatment of familial hypercholesterolemia in children and adolescents: effect of lovastatin. Canadian Lovastatin in Children Study Group.
    Lambert M, Lupien PJ, Gagné C, Lévy E, Blaichman S, Langlois S, Hayden M, Rose V, Clarke JT, Wolfe BM, Clarson C, Parsons H, Stephure DK, Potvin D, Lambert J.
    Pediatrics; 1996 May 27; 97(5):619-28. PubMed ID: 8628597
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia.
    Defesche JC, Pricker KL, Hayden MR, van der Ende BE, Kastelein JJ.
    Arch Intern Med; 1993 Oct 25; 153(20):2349-56. PubMed ID: 8215738
    [Abstract] [Full Text] [Related]

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