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Journal Abstract Search

241 related items for PubMed ID: 21722902

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  • 3. 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; 223(2):401-8. PubMed ID: 22698793
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  • 4. Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes.
    García-Otín AL, Cofán M, Junyent M, Recalde D, Cenarro A, Pocoví M, Ros E, Civeira F.
    J Clin Endocrinol Metab; 2007 Sep; 92(9):3667-73. PubMed ID: 17566095
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  • 6. 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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  • 8. Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia.
    Hernández Flores TJ, González García JR, Colima Fausto AG, Vázquez Cárdenas NA, Sánchez López Y, Zarate Morales CA, Magaña Torres MT.
    J Clin Lipidol; 2018 Jan; 12(3):693-701. PubMed ID: 29576406
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  • 10. Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
    Saint-Jore B, Varret M, Dachet C, Rabès JP, Devillers M, Erlich D, Blanchard P, Krempf M, Mathé D, Chanu B, Jacotot B, Farnier M, Bonaïti-Péllié C, Junien C, Boileau C.
    Eur J Hum Genet; 2000 Aug; 8(8):621-30. PubMed ID: 10952765
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  • 12. 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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  • 13. Molecular characterization of familial hypercholesterolemia in German and Greek patients.
    Dedoussis GV, Genschel J, Bochow B, Pitsavos C, Skoumas J, Prassa M, Lkhagvasuren S, Toutouzas P, Vogt A, Kassner U, Thomas HP, Schmidt H.
    Hum Mutat; 2004 Mar; 23(3):285-6. PubMed ID: 14974088
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  • 14. Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.
    Sjouke B, Defesche JC, Hartgers ML, Wiegman A, Roeters van Lennep JE, Kastelein JJ, Hovingh GK.
    J Clin Lipidol; 2016 Mar; 10(6):1462-1469. PubMed ID: 27919364
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  • 16. 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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  • 17. LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.
    Yang KC, Su YN, Shew JY, Yang KY, Tseng WK, Wu CC, Lee YT.
    J Formos Med Assoc; 2007 Oct; 106(10):799-807. PubMed ID: 17964958
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  • 18. 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; 22(5):e55-9. PubMed ID: 21925044
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  • 19. Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia.
    Sjouke B, Yahya R, Tanck MWT, Defesche JC, de Graaf J, Wiegman A, Kastelein JJP, Mulder MT, Hovingh GK, Roeters van Lennep JE.
    J Clin Lipidol; 2017 Oct; 11(2):507-514. PubMed ID: 28502508
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  • 20. Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.
    Jelassi A, Jguirim I, Najah M, Abid AM, Boughamoura L, Maatouk F, Rouis M, Boileau C, Rabès JP, Slimane MN, Varret M.
    Atherosclerosis; 2009 Apr; 203(2):449-53. PubMed ID: 18757057
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