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Journal Abstract Search

571 related items for PubMed ID: 23375686

  • 21.
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  • 22. 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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  • 23.
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  • 24. 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; 48(Pt 1):83-6. PubMed ID: 21115573
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  • 26. Cosegregation of serum cholesterol with cholesterol intestinal absorption markers in families with primary hypercholesterolemia without mutations in LDLR, APOB, PCSK9 and APOE genes.
    Baila-Rueda L, Pérez-Ruiz MR, Jarauta E, Tejedor MT, Mateo-Gallego R, Lamiquiz-Moneo I, de Castro-Orós I, Cenarro A, Civeira F.
    Atherosclerosis; 2016 Mar; 246():202-7. PubMed ID: 26802983
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  • 27. Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
    Hopkins PN, Defesche J, Fouchier SW, Bruckert E, Luc G, Cariou B, Sjouke B, Leren TP, Harada-Shiba M, Mabuchi H, Rabès JP, Carrié A, van Heyningen C, Carreau V, Farnier M, Teoh YP, Bourbon M, Kawashiri MA, Nohara A, Soran H, Marais AD, Tada H, Abifadel M, Boileau C, Chanu B, Katsuda S, Kishimoto I, Lambert G, Makino H, Miyamoto Y, Pichelin M, Yagi K, Yamagishi M, Zair Y, Mellis S, Yancopoulos GD, Stahl N, Mendoza J, Du Y, Hamon S, Krempf M, Swergold GD.
    Circ Cardiovasc Genet; 2015 Dec; 8(6):823-31. PubMed ID: 26374825
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  • 28. Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.
    Vaca G, Vàzquez A, Magaña MT, Ramìrez ML, Dàvalos IP, Martìnez E, Marìn B, Carrillo G.
    Atherosclerosis; 2011 Oct; 218(2):391-6. PubMed ID: 21722902
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  • 29.
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  • 30. Genetic heterogeneity of autosomal dominant hypercholesterolemia.
    Varret M, Abifadel M, Rabès JP, Boileau C.
    Clin Genet; 2008 Jan; 73(1):1-13. PubMed ID: 18028451
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  • 33. Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis.
    Shin DG, Han SM, Kim DI, Rhee MY, Lee BK, Ahn YK, Cho BR, Woo JT, Hur SH, Jeong JO, Jang Y, Lee JH, Lee SH.
    Atherosclerosis; 2015 Nov; 243(1):53-8. PubMed ID: 26343872
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  • 34.
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  • 35. 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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  • 36.
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  • 37. Genetic analysis of familial hypercholesterolaemia in Western Australia.
    Hooper AJ, Nguyen LT, Burnett JR, Bates TR, Bell DA, Redgrave TG, Watts GF, van Bockxmeer FM.
    Atherosclerosis; 2012 Oct; 224(2):430-4. PubMed ID: 22883975
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  • 38. 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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