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Journal Abstract Search

251 related items for PubMed ID: 21382890

  • 1. Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
    van der Graaf A, Avis HJ, Kusters DM, Vissers MN, Hutten BA, Defesche JC, Huijgen R, Fouchier SW, Wijburg FA, Kastelein JJ, Wiegman A.
    Circulation; 2011 Mar 22; 123(11):1167-73. PubMed ID: 21382890
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  • 2. Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population.
    Assouline L, Levy E, Feoli-Fonseca JC, Godbout C, Lambert M.
    Pediatrics; 1995 Aug 22; 96(2 Pt 1):239-46. PubMed ID: 7630677
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  • 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 22; 222(1):158-66. PubMed ID: 22417841
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  • 4. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov 22; 49(4):318-45. PubMed ID: 12553167
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  • 6. Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary results.
    Bourbon M, Rato Q, Investigadores do Estudo Português de Hipercolesterolemia Familiar.
    Rev Port Cardiol; 2006 Nov 22; 25(11):999-1013. PubMed ID: 17274457
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  • 10. 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 22; 106(10):799-807. PubMed ID: 17964958
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  • 11. 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 22; 218(2):391-6. PubMed ID: 21722902
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  • 12. 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 22; 33(2):448-55. PubMed ID: 22095935
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  • 14. 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 22; 26(5):497. PubMed ID: 16211558
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  • 15. 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 Nov 22; 10(6):1462-1469. PubMed ID: 27919364
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