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Journal Abstract Search

230 related items for PubMed ID: 17964958

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  • 2. 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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  • 4. Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.
    Slimani A, Jelassi A, Jguirim I, Najah M, Rebhi L, Omezzine A, Maatouk F, Hamda KB, Kacem M, Rabès JP, Abifadel M, Boileau C, Rouis M, Slimane MN, Varret M.
    Atherosclerosis; 2012 May; 222(1):158-66. PubMed ID: 22417841
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  • 6. 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
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  • 9. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
    Abifadel M, Rabès JP, Jambart S, Halaby G, Gannagé-Yared MH, Sarkis A, Beaino G, Varret M, Salem N, Corbani S, Aydénian H, Junien C, Munnich A, Boileau C.
    Hum Mutat; 2009 Jul; 30(7):E682-91. PubMed ID: 19319977
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  • 12. Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
    Wintjens R, Bozon D, Belabbas K, MBou F, Girardet JP, Tounian P, Jolly M, Boccara F, Cohen A, Karsenty A, Dubern B, Carel JC, Azar-Kolakez A, Feillet F, Labarthe F, Gorsky AM, Horovitz A, Tamarindi C, Kieffer P, Lienhardt A, Lascols O, Di Filippo M, Dufernez F.
    J Lipid Res; 2016 Mar; 57(3):482-91. PubMed ID: 26802169
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  • 13. Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia.
    Sjouke B, Yahya R, Tanck MWT, Defesche JC, de Graaf J, Wiegman A, Kastelein JJP, Mulder MT, Hovingh GK, Roeters van Lennep JE.
    J Clin Lipidol; 2017 Mar; 11(2):507-514. PubMed ID: 28502508
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  • 14. 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; 11(12):959-65. PubMed ID: 14508510
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  • 16. Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
    Chmara M, Wasag B, Zuk M, Kubalska J, Wegrzyn A, Bednarska-Makaruk M, Pronicka E, Wehr H, Defesche JC, Rynkiewicz A, Limon J.
    J Appl Genet; 2010 Dec; 51(1):95-106. PubMed ID: 20145306
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  • 17. A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.
    Jelassi A, Najah M, Jguirim I, Maatouk F, Lestavel S, Laroussi OS, Rouis M, Boileau C, Rabès JP, Varret M, Slimane MN.
    Clin Chim Acta; 2008 Jun; 392(1-2):25-9. PubMed ID: 18355452
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  • 19. Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia.
    Lv X, Wang C, Liu L, Yin G, Zhang W, Abdu FA, Shi T, Zhang Q, Che W.
    Lipids Health Dis; 2023 Oct 18; 22(1):175. PubMed ID: 37853441
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