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Journal Abstract Search

591 related items for PubMed ID: 30270081

  • 1. Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.
    Alnouri F, Athar M, Al-Allaf FA, Abduljaleel Z, Taher MM, Bouazzaoui A, Al Ammari D, Karrar H, Albabtain M.
    Atherosclerosis; 2018 Oct; 277():425-433. PubMed ID: 30270081
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  • 2. Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.
    Al-Allaf FA, Alashwal A, Abduljaleel Z, Taher MM, Bouazzaoui A, Abalkhail H, Al-Allaf AF, Athar M.
    Acta Biochim Pol; 2017 Oct; 64(1):75-79. PubMed ID: 27878139
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  • 3. 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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  • 4. 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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  • 7. Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.
    Alnouri F, Al-Allaf FA, Athar M, Al-Rasadi K, Alammari D, Alanazi M, Abduljaleel Z, Awan Z, Bouazzaoui A, Dairi G, Elbjeirami WM, Karra H, Kinsara AJ, Taher MM.
    Curr Vasc Pharmacol; 2022 Jul 01; 20(4):361-369. PubMed ID: 35249492
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  • 8. Systematic prediction of familial hypercholesterolemia caused by low-density lipoprotein receptor missense mutations.
    Guo J, Gao Y, Li X, He Y, Zheng X, Bi J, Hou L, Sa Y, Zhang M, Yin H, Jiang L.
    Atherosclerosis; 2019 Feb 01; 281():1-8. PubMed ID: 30583242
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  • 10. [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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  • 11. Heterozygous familial hypercholesterolaemia in a pair of identical twins: a case report and updated review.
    Mohd Nor NS, Al-Khateeb AM, Chua YA, Mohd Kasim NA, Mohd Nawawi H.
    BMC Pediatr; 2019 Apr 11; 19(1):106. PubMed ID: 30975109
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  • 13. 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 11; 29():17-24. PubMed ID: 28965616
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  • 14. 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 11; 257():55-63. PubMed ID: 28104544
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  • 18. 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 11; 263():163-170. PubMed ID: 28645073
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  • 19. Cascade Screening for Familial Hypercholesterolemia in South Africa: The Wits FIND-FH Program.
    Raal FJ, Bahassi EM, Stevens B, Turner TA, Stein EA.
    Arterioscler Thromb Vasc Biol; 2020 Nov 11; 40(11):2747-2755. PubMed ID: 32878475
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