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Journal Abstract Search

130 related items for PubMed ID: 18028451

  • 1. Genetic heterogeneity of autosomal dominant hypercholesterolemia.
    Varret M, Abifadel M, Rabès JP, Boileau C.
    Clin Genet; 2008 Jan; 73(1):1-13. PubMed ID: 18028451
    [Abstract] [Full Text] [Related]

  • 2. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
    Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C.
    Nat Genet; 2003 Jun; 34(2):154-6. PubMed ID: 12730697
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  • 3. Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.
    Abifadel M, Guerin M, Benjannet S, Rabès JP, Le Goff W, Julia Z, Hamelin J, Carreau V, Varret M, Bruckert E, Tosolini L, Meilhac O, Couvert P, Bonnefont-Rousselot D, Chapman J, Carrié A, Michel JB, Prat A, Seidah NG, Boileau C.
    Atherosclerosis; 2012 Aug; 223(2):394-400. PubMed ID: 22683120
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  • 5. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
    Bertolini S, Pisciotta L, Rabacchi C, Cefalù AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S.
    Atherosclerosis; 2013 Apr; 227(2):342-8. PubMed ID: 23375686
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  • 6. A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia.
    Blesa S, Vernia S, Garcia-Garcia AB, Martinez-Hervas S, Ivorra C, Gonzalez-Albert V, Ascaso JF, Martín-Escudero JC, Real JT, Carmena R, Casado M, Chaves FJ.
    J Clin Endocrinol Metab; 2008 Sep; 93(9):3577-83. PubMed ID: 18559913
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  • 7. Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
    Allard D, Amsellem S, Abifadel M, Trillard M, Devillers M, Luc G, Krempf M, Reznik Y, Girardet JP, Fredenrich A, Junien C, Varret M, Boileau C, Benlian P, Rabès JP.
    Hum Mutat; 2005 Nov; 26(5):497. PubMed ID: 16211558
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  • 8. Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.
    Robles-Osorio L, Huerta-Zepeda A, Ordóñez ML, Canizales-Quinteros S, Díaz-Villaseñor A, Gutiérrez-Aguilar R, Riba L, Huertas-Vázquez A, Rodríguez-Torres M, Gómez-Díaz RA, Salinas S, Ongay-Larios L, Codiz-Huerta G, Mora-Cabrera M, Mehta R, Gómez Pérez FJ, Rull JA, Rabès JP, Tusié-Luna MT, Durán-Vargas S, Aguilar-Salinas CA.
    Arch Med Res; 2006 Jan; 37(1):102-8. PubMed ID: 16314194
    [Abstract] [Full Text] [Related]

  • 9. Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia.
    Jelassi A, Slimani A, Jguirim I, Najah M, Maatouk F, Varret M, Slimane MN.
    Ann Clin Biochem; 2011 Jan; 48(Pt 1):83-6. PubMed ID: 21115573
    [Abstract] [Full Text] [Related]

  • 10. Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
    Garcia-Garcia AB, Ivorra C, Martinez-Hervas S, Blesa S, Fuentes MJ, Puig O, Martín-de-Llano JJ, Carmena R, Real JT, Chaves FJ.
    Atherosclerosis; 2011 Oct; 218(2):423-30. PubMed ID: 21868016
    [Abstract] [Full Text] [Related]

  • 11. How does mutant proprotein convertase neural apoptosis-regulated convertase 1 induce autosomal dominant hypercholesterolemia?
    Jirholt P, Adiels M, Borén J.
    Arterioscler Thromb Vasc Biol; 2004 Aug; 24(8):1334-6. PubMed ID: 15297286
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  • 13. Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.
    Motazacker MM, Pirruccello J, Huijgen R, Do R, Gabriel S, Peter J, Kuivenhoven JA, Defesche JC, Kastelein JJ, Hovingh GK, Zelcer N, Kathiresan S, Fouchier SW.
    Eur Heart J; 2012 Jun; 33(11):1360-6. PubMed ID: 22408029
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  • 15. Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.
    Chater R, Aït Chihab K, Rabès JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.
    Clin Chim Acta; 2006 Nov; 373(1-2):62-9. PubMed ID: 16806138
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  • 18. [Molecular basis of familial hypercholesterolemia-like phenotype heterogeneity].
    Wang LY, Lin J, Liu S, Chen BS.
    Yi Chuan Xue Bao; 2005 Jul; 32(7):770-7. PubMed ID: 16078748
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