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Journal Abstract Search

155 related items for PubMed ID: 8767444

  • 1. Use of the single strand conformation polymorphism method for rapid screening for mutations in the low density lipoprotein receptor gene in patients with familial hypercholesterolemia: effect on plasma lipid levels of different classes of mutations.
    Gudnason V, Day IN, Humphries SE.
    Z Gastroenterol; 1996 Jun; 34 Suppl 3():6-8. PubMed ID: 8767444
    [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. 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 Nov; 1(4):325-32. PubMed ID: 1301940
    [Abstract] [Full Text] [Related]

  • 5. Screening for mutations in the LDL receptor gene and apolipoprotein B-100 gene in 218 patients with severe hypercholesterolemia.
    Geisel J, Holzem G, Schleifenbaum T, Oette K.
    Z Gastroenterol; 1996 Jun; 34 Suppl 3():14-5. PubMed ID: 8767447
    [Abstract] [Full Text] [Related]

  • 6. 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; 28(1):7-15. PubMed ID: 17694954
    [Abstract] [Full Text] [Related]

  • 7. [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]

  • 8. Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.
    Callis M, Jansen S, Thiart R, de Villiers JN, Raal FJ, Kotze MJ.
    Mol Cell Probes; 1998 Jun 25; 12(3):149-52. PubMed ID: 9664576
    [Abstract] [Full Text] [Related]

  • 9. 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 25; 17(5):432-3. PubMed ID: 11317361
    [Abstract] [Full Text] [Related]

  • 10. 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 25; 20(6):477. PubMed ID: 12442279
    [Abstract] [Full Text] [Related]

  • 11. [Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family].
    Cheng XH, Zheng F, Zhou X, Xiong CL, Ding J, Chen YM.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb 25; 25(1):55-8. PubMed ID: 18247305
    [Abstract] [Full Text] [Related]

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  • 14. Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population.
    Arráiz N, Bermúdez V, Rondon N, Reyes F, Borjas L, Solís E, Mujica E, Prieto C, Reyna N, Velasco M.
    Am J Ther; 2010 Feb 25; 17(3):325-9. PubMed ID: 20019594
    [Abstract] [Full Text] [Related]

  • 15. [Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients].
    Guan X, Li M, Fan L, Chen Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr 25; 20(2):138-42. PubMed ID: 12673584
    [Abstract] [Full Text] [Related]

  • 16. 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 25; 34(6):402-9. PubMed ID: 15200491
    [Abstract] [Full Text] [Related]

  • 17. 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 Jun 25; 9(6):555-62. PubMed ID: 9195230
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  • 18. Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.
    Civeira F, Jarauta E, Cenarro A, García-Otín AL, Tejedor D, Zambón D, Mallen M, Ros E, Pocoví M.
    J Am Coll Cardiol; 2008 Nov 04; 52(19):1546-53. PubMed ID: 19007590
    [Abstract] [Full Text] [Related]

  • 19. Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.
    Cenarro A, Jensen HK, Casao E, Civeira F, González-Bonillo J, Rodríguez-Rey JC, Gregersen N, Pocoví M.
    Hum Mutat; 1998 Nov 04; 11(5):413. PubMed ID: 10206683
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