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Journal Abstract Search

152 related items for PubMed ID: 21145767

  • 1.
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  • 2. 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; 46(3):152-4. PubMed ID: 11310584
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  • 3. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].
    Liu YR, Tao QM, Chen JZ, Tao M, Guo XG, Shang YP, Zhu JH, Zhang FR, Zheng LR, Wang XX.
    Sheng Li Xue Bao; 2004 Oct 25; 56(5):566-72. PubMed ID: 15497035
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  • 4. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov 25; 49(4):318-45. PubMed ID: 12553167
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  • 5. 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 25; 9(6):504-510. PubMed ID: 27784735
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  • 6. A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.
    Soufi M, Rust S, Walter M, Schaefer JR.
    Gene; 2013 May 25; 521(1):200-3. PubMed ID: 23510778
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  • 9. [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
    [Abstract] [Full Text] [Related]

  • 10. Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.
    Diakou M, Miltiadous G, Xenophontos SL, Manoli P, Cariolou MA, Elisaf M.
    Eur J Intern Med; 2011 Oct 02; 22(5):e55-9. PubMed ID: 21925044
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  • 12. A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia.
    Vergopoulos A, Bajari T, Jouma M, Knoblauch H, Aydin A, Bähring S, Mueller-Myhsok B, Dresel A, Joubran R, Luft FC, Schuster H.
    Eur J Hum Genet; 1997 Oct 02; 5(5):315-23. PubMed ID: 9412789
    [Abstract] [Full Text] [Related]

  • 13. Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary results.
    Bourbon M, Rato Q, Investigadores do Estudo Português de Hipercolesterolemia Familiar.
    Rev Port Cardiol; 2006 Nov 02; 25(11):999-1013. PubMed ID: 17274457
    [Abstract] [Full Text] [Related]

  • 14. 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 02; 277():425-433. PubMed ID: 30270081
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  • 15. A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease.
    Castillo S, Reyes G, Tejedor D, Mozas P, Suarez Y, Lasuncion MA, Cenarro A, Civeira F, Alonso R, Mata P, Pocovi M, Spanish Group of FH.
    Hum Mutat; 2002 Dec 02; 20(6):477. PubMed ID: 12442279
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  • 16. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review.
    Austin MA, Hutter CM, Zimmern RL, Humphries SE.
    Am J Epidemiol; 2004 Sep 01; 160(5):407-20. PubMed ID: 15321837
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  • 17. Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.
    Mollaki V, Progias P, Drogari E.
    Atherosclerosis; 2014 Dec 01; 237(2):798-804. PubMed ID: 25463123
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  • 18. Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.
    Chiou KR, Charng MJ.
    Gene; 2012 Apr 25; 498(1):100-6. PubMed ID: 22353362
    [Abstract] [Full Text] [Related]

  • 19. 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 25; 263():163-170. PubMed ID: 28645073
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  • 20. Homozygous familial hypercholesterolemia.
    Alicezah MK, Razali R, Rahman T, Hoh BP, Suhana NH, Muid S, Nawawi HM, Koshy M.
    Malays J Pathol; 2014 Aug 25; 36(2):131-7. PubMed ID: 25194536
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