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Journal Abstract Search

2171 related items for PubMed ID: 12730697

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia.
    Maxwell KN, Breslow JL.
    Curr Opin Lipidol; 2005 Apr; 16(2):167-72. PubMed ID: 15767856
    [Abstract] [Full Text] [Related]

  • 5. Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9.
    Ouguerram K, Chetiveaux M, Zair Y, Costet P, Abifadel M, Varret M, Boileau C, Magot T, Krempf M.
    Arterioscler Thromb Vasc Biol; 2004 Aug; 24(8):1448-53. PubMed ID: 15166014
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.
    Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Inoue T, Mori M, Tada H, Nakanishi C, Yagi K, Yamagishi M, Ueda K, Takegoshi T, Miyamoto S, Inazu A, Koizumi J, Hokuriku FH Study Group.
    Atherosclerosis; 2014 Sep; 236(1):54-61. PubMed ID: 25014035
    [Abstract] [Full Text] [Related]

  • 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. A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family.
    Lin J, Wang LY, Liu S, Wang XM, Yong Q, Yang Y, DU LP, Pan XD, Wang X, Jiang ZS.
    Chin Med J (Engl); 2010 May 05; 123(9):1133-8. PubMed ID: 20529551
    [Abstract] [Full Text] [Related]

  • 10. 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 05; 33(11):1360-6. PubMed ID: 22408029
    [Abstract] [Full Text] [Related]

  • 11. 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 05; 177(2):415-22. PubMed ID: 15530918
    [Abstract] [Full Text] [Related]

  • 12. 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 05; 48(Pt 1):83-6. PubMed ID: 21115573
    [Abstract] [Full Text] [Related]

  • 13. Genetic heterogeneity of autosomal dominant hypercholesterolemia.
    Varret M, Abifadel M, Rabès JP, Boileau C.
    Clin Genet; 2008 Jan 05; 73(1):1-13. PubMed ID: 18028451
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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 29; 93(9):3577-83. PubMed ID: 18559913
    [Abstract] [Full Text] [Related]

  • 16. 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 29; 30(7):E682-91. PubMed ID: 19319977
    [Abstract] [Full Text] [Related]

  • 17. 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 29; 30(4):520-9. PubMed ID: 19191301
    [Abstract] [Full Text] [Related]

  • 18. Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.
    Si-Tayeb K, Idriss S, Champon B, Caillaud A, Pichelin M, Arnaud L, Lemarchand P, Le May C, Zibara K, Cariou B.
    Dis Model Mech; 2016 Jan 29; 9(1):81-90. PubMed ID: 26586530
    [Abstract] [Full Text] [Related]

  • 19. Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.
    Al-Allaf FA, Athar M, Abduljaleel Z, Taher MM, Khan W, Ba-Hammam FA, Abalkhail H, Alashwal A.
    Gene; 2015 Jul 01; 565(1):76-84. PubMed ID: 25839937
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 227(2):342-8. PubMed ID: 23375686
    [Abstract] [Full Text] [Related]

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