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Journal Abstract Search

409 related items for PubMed ID: 30270082

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  • 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
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  • 5. Homozygous familial hypercholesterolaemia in Vietnam: Case series, genetics and cascade testing of families.
    Truong TH, Kim NT, Nguyen MNT, Pang J, Hooper AJ, Watts GF, Do DL.
    Atherosclerosis; 2018 Oct; 277():392-398. PubMed ID: 30270076
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  • 6. 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; 29():17-24. PubMed ID: 28965616
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  • 7. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.
    Wang D, Wu B, Li Y, Heng W, Zhong H, Mu Y, Wang J.
    J Hum Genet; 2001 Oct; 46(3):152-4. PubMed ID: 11310584
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  • 8. 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
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  • 12. Genetics and kinetics of familial hypercholesterolemia, with the special focus on FH-(Marburg) p.W556R.
    Soufi M, Kurt B, Schweer H, Sattler AM, Klaus G, Zschocke J, Schaefer JR.
    Atheroscler Suppl; 2009 Dec 29; 10(5):5-11. PubMed ID: 20129366
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  • 13. Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.
    Setia N, Saxena R, Arora A, Verma IC.
    Atherosclerosis; 2016 Dec 29; 255():31-36. PubMed ID: 27816806
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  • 14. [Genotype-phenotype analysis of a homozygous familial hypercholesterolemia pedigree].
    Wang DY, Zhang YM, Che FY, Chu JP, Zhang LY, Li H, Liu BL, Yao ZY, Zhao YW.
    Zhonghua Er Ke Za Zhi; 2020 Feb 02; 58(2):101-106. PubMed ID: 32102145
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  • 15. First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene.
    Al-Hinai AT, Al-Abri A, Al-Dhuhli H, Al-Waili K, Al-Sabti H, Al-Yaarubi S, Al-Hashmi K, Banerjee Y, Al-Zakwani I, Al-Rasadi K.
    Angiology; 2013 May 02; 64(4):287-92. PubMed ID: 23162007
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  • 16. Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).
    Schaefer JR, Kurt B, Sattler A, Klaus G, Soufi M.
    Clin Res Cardiol Suppl; 2012 Jun 02; 7(Suppl 1):2-6. PubMed ID: 22528129
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  • 17. Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene.
    Jiang L, Benito-Vicente A, Tang L, Etxebarria A, Cui W, Uribe KB, Pan XD, Ostolaza H, Yang SW, Zhou YJ, Martin C, Wang LY.
    Atherosclerosis; 2017 Aug 02; 263():163-170. PubMed ID: 28645073
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