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Journal Abstract Search

130 related items for PubMed ID: 18028451

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  • 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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  • 4. Molecular spectrum of autosomal dominant hypercholesterolemia in France.
    Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C, French ADH Research Network, Boileau C, Varret M, Rabès JP.
    Hum Mutat; 2010 Nov; 31(11):E1811-24. PubMed ID: 20809525
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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
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  • 14. [Familial hypercholesterolemia in Tunisia].
    Jelassi A, Jguirim I, Najah M, Maatouk F, Ben Hamda K, Slimane MN.
    Pathol Biol (Paris); 2009 Jul; 57(5):444-50. PubMed ID: 19041195
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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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  • 17. Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.
    Fouchier SW, Dallinga-Thie GM, Meijers JC, Zelcer N, Kastelein JJ, Defesche JC, Hovingh GK.
    Circ Res; 2014 Aug 29; 115(6):552-5. PubMed ID: 25035151
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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 29; 32(7):770-7. PubMed ID: 16078748
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  • 19. Genetics of familial hypercholesterolemia.
    Brautbar A, Leary E, Rasmussen K, Wilson DP, Steiner RD, Virani S.
    Curr Atheroscler Rep; 2015 Apr 29; 17(4):491. PubMed ID: 25712136
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  • 20. No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes.
    Damgaard D, Jensen JM, Larsen ML, Soerensen VR, Jensen HK, Gregersen N, Jensen LG, Faergeman O.
    Atherosclerosis; 2004 Dec 29; 177(2):415-22. PubMed ID: 15530918
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