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Journal Abstract Search

838 related items for PubMed ID: 11668627

  • 1. 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]

  • 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. 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 Nov; 46(3):152-4. PubMed ID: 11310584
    [Abstract] [Full Text] [Related]

  • 4. Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
    Mozas P, Castillo S, Tejedor D, Reyes G, Alonso R, Franco M, Saenz P, Fuentes F, Almagro F, Mata P, Pocoví M.
    Hum Mutat; 2004 Aug; 24(2):187. PubMed ID: 15241806
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  • 5. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].
    Liu YR, Tao QM, Chen JZ, Tao M, Guo XG, Shang YP, Zhu JH, Zhang FR, Zheng LR, Wang XX.
    Sheng Li Xue Bao; 2004 Oct 25; 56(5):566-72. PubMed ID: 15497035
    [Abstract] [Full Text] [Related]

  • 6. Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.
    Loux N, Saint-Jore B, Collod G, Dairou F, Benlian P, Truffert J, Dastugue B, Douste-Blazy P, de Gennes JL, Junien C.
    Hum Mutat; 1992 Oct 25; 1(4):325-32. PubMed ID: 1301940
    [Abstract] [Full Text] [Related]

  • 7. Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.
    Salazar LA, Hirata MH, Cavalli SA, Nakandakare ER, Forti N, Diament J, Giannini SD, Bertolami MC, Hirata RD.
    Hum Mutat; 2002 Apr 25; 19(4):462-3. PubMed ID: 11933210
    [Abstract] [Full Text] [Related]

  • 8. Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.
    Cefalù AB, Barraco G, Noto D, Valenti V, Barbagallo CM, Elisir GD, Cuniberti LA, Werba JP, Libra M, Costa S, Gianguzza F, Notarbartolo A, Travali S, Averna MR.
    Int J Mol Med; 2006 Mar 25; 17(3):539-46. PubMed ID: 16465405
    [Abstract] [Full Text] [Related]

  • 9. Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.
    Xie L, Gong QH, Xie ZG, Liang ZM, Hu ZM, Xia K, Xia JH, Yang YF.
    Chin Med J (Engl); 2007 Oct 05; 120(19):1694-9. PubMed ID: 17935672
    [Abstract] [Full Text] [Related]

  • 10. Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.
    Miltiadous G, Elisaf M, Bairaktari H, Xenophontos SL, Manoli P, Cariolou MA.
    Hum Mutat; 2001 May 05; 17(5):432-3. PubMed ID: 11317361
    [Abstract] [Full Text] [Related]

  • 11. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
    Azian M, Hapizah MN, Khalid BA, Khalid Y, Rosli A, Jamal R.
    Malays J Pathol; 2006 Jun 05; 28(1):7-15. PubMed ID: 17694954
    [Abstract] [Full Text] [Related]

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  • 13. 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 05; 34(6):402-9. PubMed ID: 15200491
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  • 15. Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
    Takada D, Emi M, Ezura Y, Nobe Y, Kawamura K, Iino Y, Katayama Y, Xin Y, Wu LL, Larringa-Shum S, Stephenson SH, Hunt SC, Hopkins PN.
    J Hum Genet; 2002 Jun 05; 47(12):656-64. PubMed ID: 12522687
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  • 17. Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.
    Kulseth MA, Berge KE, Bogsrud MP, Leren TP.
    J Hum Genet; 2010 Oct 05; 55(10):676-80. PubMed ID: 20703241
    [Abstract] [Full Text] [Related]

  • 18. Concentrations of the atherogenic Lp(a) are elevated in FH.
    Lingenhel A, Kraft HG, Kotze M, Peeters AV, Kronenberg F, Kruse R, Utermann G.
    Eur J Hum Genet; 1998 Jan 05; 6(1):50-60. PubMed ID: 9781014
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  • 20. Molecular characterization of familial hypercholesterolemia in German and Greek patients.
    Dedoussis GV, Genschel J, Bochow B, Pitsavos C, Skoumas J, Prassa M, Lkhagvasuren S, Toutouzas P, Vogt A, Kassner U, Thomas HP, Schmidt H.
    Hum Mutat; 2004 Mar 05; 23(3):285-6. PubMed ID: 14974088
    [Abstract] [Full Text] [Related]

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