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Journal Abstract Search

957 related items for PubMed ID: 29353225

  • 1. Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
    Pek SLT, Dissanayake S, Fong JCW, Lin MX, Chan EZL, Tang JI, Lee CW, Ong HY, Sum CF, Lim SC, Tavintharan S.
    Atherosclerosis; 2018 Feb; 269():106-116. PubMed ID: 29353225
    [Abstract] [Full Text] [Related]

  • 2. Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan.
    Hsiung YC, Lin PC, Chen CS, Tung YC, Yang WS, Chen PL, Su TC.
    Atherosclerosis; 2018 Oct; 277():440-447. PubMed ID: 30270083
    [Abstract] [Full Text] [Related]

  • 3. Molecular genetics of familial hypercholesterolemia in Israel-revisited.
    Durst R, Ibe UK, Shpitzen S, Schurr D, Eliav O, Futema M, Whittall R, Szalat A, Meiner V, Knobler H, Gavish D, Henkin Y, Ellis A, Rubinstein A, Harats D, Bitzur R, Hershkovitz B, Humphries SE, Leitersdorf E.
    Atherosclerosis; 2017 Feb; 257():55-63. PubMed ID: 28104544
    [Abstract] [Full Text] [Related]

  • 4. Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
    Grenkowitz T, Kassner U, Wühle-Demuth M, Salewsky B, Rosada A, Zemojtel T, Hopfenmüller W, Isermann B, Borucki K, Heigl F, Laufs U, Wagner S, Kleber ME, Binner P, März W, Steinhagen-Thiessen E, Demuth I.
    Atherosclerosis; 2016 Oct; 253():88-93. PubMed ID: 27596133
    [Abstract] [Full Text] [Related]

  • 5. Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia.
    Rubba P, Gentile M, Marotta G, Iannuzzi A, Sodano M, De Simone B, Jossa F, Iannuzzo G, Giacobbe C, Di Taranto MD, Fortunato G.
    Eur J Prev Cardiol; 2017 Jul; 24(10):1051-1059. PubMed ID: 28353356
    [Abstract] [Full Text] [Related]

  • 6. Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.
    Radovica-Spalvina I, Latkovskis G, Silamikelis I, Fridmanis D, Elbere I, Ventins K, Ozola G, Erglis A, Klovins J.
    BMC Med Genet; 2015 Sep 28; 16():86. PubMed ID: 26415676
    [Abstract] [Full Text] [Related]

  • 7. Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.
    Setia N, Saxena R, Arora A, Verma IC.
    Atherosclerosis; 2016 Dec 28; 255():31-36. PubMed ID: 27816806
    [Abstract] [Full Text] [Related]

  • 8. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
    Pirillo A, Garlaschelli K, Arca M, Averna M, Bertolini S, Calandra S, Tarugi P, Catapano AL, LIPIGEN Group.
    Atheroscler Suppl; 2017 Oct 28; 29():17-24. PubMed ID: 28965616
    [Abstract] [Full Text] [Related]

  • 9. The genetic spectrum of familial hypercholesterolemia in the central south region of China.
    Xiang R, Fan LL, Lin MJ, Li JJ, Shi XY, Jin JY, Liu YX, Chen YQ, Xia K, Zhao SP.
    Atherosclerosis; 2017 Mar 28; 258():84-88. PubMed ID: 28235710
    [Abstract] [Full Text] [Related]

  • 10. Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study.
    Setia N, Movva S, Balakrishnan P, Biji IK, Sawhney JPS, Puri R, Arora A, Puri RD, Saxena R, Mishra S, Apte S, Kulshrestha S, Ramprasad VL, Verma IC.
    J Clin Lipidol; 2020 Mar 28; 14(1):35-45. PubMed ID: 32044282
    [Abstract] [Full Text] [Related]

  • 11. Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.
    Huang CC, Niu DM, Charng MJ.
    J Atheroscler Thromb; 2022 May 01; 29(5):639-653. PubMed ID: 33994402
    [Abstract] [Full Text] [Related]

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  • 13. 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 01; 223(2):401-8. PubMed ID: 22698793
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  • 15. A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
    Reeskamp LF, Hartgers ML, Peter J, Dallinga-Thie GM, Zuurbier L, Defesche JC, Grefhorst A, Hovingh GK.
    Circ Genom Precis Med; 2018 Dec 01; 11(12):e002385. PubMed ID: 30562117
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 246():202-7. PubMed ID: 26802983
    [Abstract] [Full Text] [Related]

  • 18. Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE.
    Jarauta E, Pérez-Ruiz MR, Pérez-Calahorra S, Mateo-Gallego R, Cenarro A, Cofán M, Ros E, Civeira F, Tejedor MT.
    J Clin Lipidol; 2016 Mar 01; 10(6):1397-1405.e2. PubMed ID: 27919357
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  • 20. Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.
    Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Inoue T, Mori M, Tada H, Nakanishi C, Yagi K, Yamagishi M, Ueda K, Takegoshi T, Miyamoto S, Inazu A, Koizumi J, Hokuriku FH Study Group.
    Atherosclerosis; 2014 Sep 01; 236(1):54-61. PubMed ID: 25014035
    [Abstract] [Full Text] [Related]

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