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Journal Abstract Search

172 related items for PubMed ID: 35628605

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  • 25. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
    Bertolini S, Pisciotta L, Rabacchi C, Cefalù AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S.
    Atherosclerosis; 2013 Apr; 227(2):342-8. PubMed ID: 23375686
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  • 32. Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.
    Al-Allaf FA, Athar M, Abduljaleel Z, Taher MM, Khan W, Ba-Hammam FA, Abalkhail H, Alashwal A.
    Gene; 2015 Jul 01; 565(1):76-84. PubMed ID: 25839937
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  • 34. ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.
    Reeskamp LF, Volta A, Zuurbier L, Defesche JC, Hovingh GK, Grefhorst A.
    J Clin Lipidol; 2020 Jul 01; 14(2):207-217.e7. PubMed ID: 32088153
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  • 35. Pharmacokinetic and pharmacodynamic assessment of alirocumab in patients with familial hypercholesterolemia associated with proprotein convertase subtilisin/kexin type 9 gain-of-function or apolipoprotein B loss-of-function mutations.
    Hopkins PN, Krempf M, Bruckert E, Donahue S, Yang F, Zhang Y, DiCioccio AT.
    J Clin Lipidol; 2019 Jul 01; 13(6):970-978. PubMed ID: 31767518
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  • 37. Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.
    Ohta N, Hori M, Takahashi A, Ogura M, Makino H, Tamanaha T, Fujiyama H, Miyamoto Y, Harada-Shiba M.
    J Clin Lipidol; 2016 Jul 01; 10(3):547-555.e5. PubMed ID: 27206942
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  • 38. 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
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  • 40. Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.
    Rieck L, Bardey F, Grenkowitz T, Bertram L, Helmuth J, Mischung C, Spranger J, Steinhagen-Thiessen E, Bobbert T, Kassner U, Demuth I.
    Clin Genet; 2020 Nov 01; 98(5):457-467. PubMed ID: 32770674
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