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Journal Abstract Search

590 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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  • 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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  • 5. A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.
    Tada H, Kawashiri MA, Ohtani R, Noguchi T, Nakanishi C, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M.
    Atherosclerosis; 2011 Dec 01; 219(2):663-6. PubMed ID: 21872251
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  • 6. Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.
    López G, Bernal LM, Gelvez N, Gómez LF, Nova A, Sánchez AI, Tamayo ML.
    Atherosclerosis; 2018 Oct 01; 277():434-439. PubMed ID: 30270082
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Ison HE, Clarke SL, Knowles JW.
    ; 1993 Oct 01. PubMed ID: 24404629
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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 01; 257():55-63. PubMed ID: 28104544
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  • 15. Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
    Sánchez-Hernández RM, Civeira F, Stef M, Perez-Calahorra S, Almagro F, Plana N, Novoa FJ, Sáenz-Aranzubía P, Mosquera D, Soler C, Fuentes FJ, Brito-Casillas Y, Real JT, Blanco-Vaca F, Ascaso JF, Pocovi M.
    Circ Cardiovasc Genet; 2016 Dec 01; 9(6):504-510. PubMed ID: 27784735
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  • 16. 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 01; 277():392-398. PubMed ID: 30270076
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  • 17. 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 01; 46(3):152-4. PubMed ID: 11310584
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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 01; 263():163-170. PubMed ID: 28645073
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  • 20. A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia.
    Moffa S, Onori ME, De Paolis E, Ricciardi Tenore C, Perrucci A, Pontecorvi A, Giaccari A, Urbani A, Minucci A.
    Mol Biol Rep; 2022 Feb 01; 49(2):1623-1630. PubMed ID: 34846648
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