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Journal Abstract Search

164 related items for PubMed ID: 22408029

  • 1. 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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  • 2. 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]

  • 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
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  • 4. 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. Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
    Alves AC, Etxebarria A, Soutar AK, Martin C, Bourbon M.
    Hum Mol Genet; 2014 Apr 01; 23(7):1817-28. PubMed ID: 24234650
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  • 6. 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 01; 231(2):218-22. PubMed ID: 24267230
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  • 7. 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 01; 34(2):154-6. PubMed ID: 12730697
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  • 8. 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 01; 33(2):448-55. PubMed ID: 22095935
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  • 9. 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 01; 26(5):497. PubMed ID: 16211558
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 29; 48(Pt 1):83-6. PubMed ID: 21115573
    [Abstract] [Full Text] [Related]

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  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement.
    Fouchier SW, Hutten BA, Defesche JC.
    J Med Genet; 2015 Feb 29; 52(2):80-4. PubMed ID: 25412742
    [Abstract] [Full Text] [Related]

  • 15. Molecular characterization of familial hypercholesterolemia in Spain.
    Palacios L, Grandoso L, Cuevas N, Olano-Martín E, Martinez A, Tejedor D, Stef M.
    Atherosclerosis; 2012 Mar 29; 221(1):137-42. PubMed ID: 22244043
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  • 18. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome.
    Sjouke B, Kusters DM, Kindt I, Besseling J, Defesche JC, Sijbrands EJ, Roeters van Lennep JE, Stalenhoef AF, Wiegman A, de Graaf J, Fouchier SW, Kastelein JJ, Hovingh GK.
    Eur Heart J; 2015 Mar 01; 36(9):560-5. PubMed ID: 24585268
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