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Journal Abstract Search

360 related items for PubMed ID: 16211558

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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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  • 6. 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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  • 11. APOE p.Leu167del mutation in familial hypercholesterolemia.
    Awan Z, Choi HY, Stitziel N, Ruel I, Bamimore MA, Husa R, Gagnon MH, Wang RH, Peloso GM, Hegele RA, Seidah NG, Kathiresan S, Genest J.
    Atherosclerosis; 2013 Dec; 231(2):218-22. PubMed ID: 24267230
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  • 12. 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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  • 15. Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
    Huijgen R, Sjouke B, Vis K, de Randamie JS, Defesche JC, Kastelein JJ, Hovingh GK, Fouchier SW.
    Hum Mutat; 2012 Feb; 33(2):448-55. PubMed ID: 22095935
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  • 19. 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; 177(2):415-22. PubMed ID: 15530918
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  • 20. Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
    Abifadel M, Rabès JP, Devillers M, Munnich A, Erlich D, Junien C, Varret M, Boileau C.
    Hum Mutat; 2009 Apr; 30(4):520-9. PubMed ID: 19191301
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