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PUBMED FOR HANDHELDS

Journal Abstract Search


423 related items for PubMed ID: 24234650

  • 21. Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia.
    Lye SH, Chahil JK, Bagali P, Alex L, Vadivelu J, Ahmad WA, Chan SP, Thong MK, Zain SM, Mohamed R.
    PLoS One; 2013; 8(4):e60729. PubMed ID: 23593297
    [Abstract] [Full Text] [Related]

  • 22. Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia.
    Pisciotta L, Sallo R, Rabacchi C, Wunsch A, Calandra S, Bertolini S.
    Nutr Metab Cardiovasc Dis; 2012 Oct; 22(10):831-5. PubMed ID: 21920719
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  • 23. LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.
    Snozek CL, Lagerstedt SA, Khoo TK, Rubenfire M, Isley WL, Train LJ, Baudhuin LM.
    Eur J Hum Genet; 2009 Jan; 17(1):85-90. PubMed ID: 18648394
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  • 24. Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
    Tosi I, Toledo-Leiva P, Neuwirth C, Naoumova RP, Soutar AK.
    Atherosclerosis; 2007 Sep; 194(1):102-11. PubMed ID: 17094996
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  • 25. Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.
    Haralambos K, Whatley SD, Edwards R, Gingell R, Townsend D, Ashfield-Watt P, Lansberg P, Datta DB, McDowell IF.
    Atherosclerosis; 2015 May; 240(1):190-6. PubMed ID: 25797312
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  • 27. PCSK9 R46L, lower LDL, and cardiovascular disease risk in familial hypercholesterolemia: a cross-sectional cohort study.
    Saavedra YG, Dufour R, Davignon J, Baass A.
    Arterioscler Thromb Vasc Biol; 2014 Dec; 34(12):2700-5. PubMed ID: 25278291
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  • 28. Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.
    Maglio C, Mancina RM, Motta BM, Stef M, Pirazzi C, Palacios L, Askaryar N, Borén J, Wiklund O, Romeo S.
    J Intern Med; 2014 Oct; 276(4):396-403. PubMed ID: 24785115
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  • 30. 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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  • 31. 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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  • 32. Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
    Chiou KR, Charng MJ.
    Am J Cardiol; 2010 Jun 15; 105(12):1752-8. PubMed ID: 20538126
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  • 33. 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 15; 30(7):E682-91. PubMed ID: 19319977
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  • 34. The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
    Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L.
    Atherosclerosis; 2012 Aug 15; 223(2):401-8. PubMed ID: 22698793
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  • 35. Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.
    Futema M, Shah S, Cooper JA, Li K, Whittall RA, Sharifi M, Goldberg O, Drogari E, Mollaki V, Wiegman A, Defesche J, D'Agostino MN, D'Angelo A, Rubba P, Fortunato G, Waluś-Miarka M, Hegele RA, Aderayo Bamimore M, Durst R, Leitersdorf E, Mulder MT, Roeters van Lennep JE, Sijbrands EJ, Whittaker JC, Talmud PJ, Humphries SE.
    Clin Chem; 2015 Jan 15; 61(1):231-8. PubMed ID: 25414277
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  • 39. Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.
    Diakou M, Miltiadous G, Xenophontos SL, Manoli P, Cariolou MA, Elisaf M.
    Eur J Intern Med; 2011 Oct 15; 22(5):e55-9. PubMed ID: 21925044
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  • 40. A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.
    Tada H, Kawashiri MA, Ohtani R, Noguchi T, Nakanishi C, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M.
    Atherosclerosis; 2011 Dec 15; 219(2):663-6. PubMed ID: 21872251
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