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Journal Abstract Search

360 related items for PubMed ID: 16211558

  • 21. A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family.
    Lin J, Wang LY, Liu S, Wang XM, Yong Q, Yang Y, DU LP, Pan XD, Wang X, Jiang ZS.
    Chin Med J (Engl); 2010 May 05; 123(9):1133-8. PubMed ID: 20529551
    [Abstract] [Full Text] [Related]

  • 22. Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.
    Leren TP.
    Clin Genet; 2004 May 05; 65(5):419-22. PubMed ID: 15099351
    [Abstract] [Full Text] [Related]

  • 23. A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia.
    Blesa S, Vernia S, Garcia-Garcia AB, Martinez-Hervas S, Ivorra C, Gonzalez-Albert V, Ascaso JF, Martín-Escudero JC, Real JT, Carmena R, Casado M, Chaves FJ.
    J Clin Endocrinol Metab; 2008 Sep 05; 93(9):3577-83. PubMed ID: 18559913
    [Abstract] [Full Text] [Related]

  • 24. Molecular characterization of familial hypercholesterolemia in Spain.
    Palacios L, Grandoso L, Cuevas N, Olano-Martín E, Martinez A, Tejedor D, Stef M.
    Atherosclerosis; 2012 Mar 05; 221(1):137-42. PubMed ID: 22244043
    [Abstract] [Full Text] [Related]

  • 25. Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa.
    Homer VM, Marais AD, Charlton F, Laurie AD, Hurndell N, Scott R, Mangili F, Sullivan DR, Barter PJ, Rye KA, George PM, Lambert G.
    Atherosclerosis; 2008 Feb 05; 196(2):659-66. PubMed ID: 17765244
    [Abstract] [Full Text] [Related]

  • 26. Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.
    Pisciotta L, Priore Oliva C, Cefalù AB, Noto D, Bellocchio A, Fresa R, Cantafora A, Patel D, Averna M, Tarugi P, Calandra S, Bertolini S.
    Atherosclerosis; 2006 Jun 05; 186(2):433-40. PubMed ID: 16183066
    [Abstract] [Full Text] [Related]

  • 27. The genetic spectrum of familial hypercholesterolemia in Pakistan.
    Ahmed W, Whittall R, Riaz M, Ajmal M, Sadeque A, Ayub H, Qamar R, Humphries SE.
    Clin Chim Acta; 2013 Jun 05; 421():219-25. PubMed ID: 23535506
    [Abstract] [Full Text] [Related]

  • 28. Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.
    Robles-Osorio L, Huerta-Zepeda A, Ordóñez ML, Canizales-Quinteros S, Díaz-Villaseñor A, Gutiérrez-Aguilar R, Riba L, Huertas-Vázquez A, Rodríguez-Torres M, Gómez-Díaz RA, Salinas S, Ongay-Larios L, Codiz-Huerta G, Mora-Cabrera M, Mehta R, Gómez Pérez FJ, Rull JA, Rabès JP, Tusié-Luna MT, Durán-Vargas S, Aguilar-Salinas CA.
    Arch Med Res; 2006 Jan 05; 37(1):102-8. PubMed ID: 16314194
    [Abstract] [Full Text] [Related]

  • 29. [Familial hypercholesterolemia in Tunisia].
    Jelassi A, Jguirim I, Najah M, Maatouk F, Ben Hamda K, Slimane MN.
    Pathol Biol (Paris); 2009 Jul 05; 57(5):444-50. PubMed ID: 19041195
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31. NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol.
    Benjannet S, Rhainds D, Essalmani R, Mayne J, Wickham L, Jin W, Asselin MC, Hamelin J, Varret M, Allard D, Trillard M, Abifadel M, Tebon A, Attie AD, Rader DJ, Boileau C, Brissette L, Chrétien M, Prat A, Seidah NG.
    J Biol Chem; 2004 Nov 19; 279(47):48865-75. PubMed ID: 15358785
    [Abstract] [Full Text] [Related]

  • 32. Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.
    Motazacker MM, Pirruccello J, Huijgen R, Do R, Gabriel S, Peter J, Kuivenhoven JA, Defesche JC, Kastelein JJ, Hovingh GK, Zelcer N, Kathiresan S, Fouchier SW.
    Eur Heart J; 2012 Jun 19; 33(11):1360-6. PubMed ID: 22408029
    [Abstract] [Full Text] [Related]

  • 33. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
    Bertolini S, Pisciotta L, Rabacchi C, Cefalù AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S.
    Atherosclerosis; 2013 Apr 19; 227(2):342-8. PubMed ID: 23375686
    [Abstract] [Full Text] [Related]

  • 34. Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia.
    Maxwell KN, Breslow JL.
    Curr Opin Lipidol; 2005 Apr 19; 16(2):167-72. PubMed ID: 15767856
    [Abstract] [Full Text] [Related]

  • 35. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome.
    Sjouke B, Kusters DM, Kindt I, Besseling J, Defesche JC, Sijbrands EJ, Roeters van Lennep JE, Stalenhoef AF, Wiegman A, de Graaf J, Fouchier SW, Kastelein JJ, Hovingh GK.
    Eur Heart J; 2015 Mar 01; 36(9):560-5. PubMed ID: 24585268
    [Abstract] [Full Text] [Related]

  • 36. The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
    Sharifi M, Walus-Miarka M, Idzior-Waluś B, Malecki MT, Sanak M, Whittall R, Li KW, Futema M, Humphries SE.
    Metabolism; 2016 Mar 01; 65(3):48-53. PubMed ID: 26892515
    [Abstract] [Full Text] [Related]

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  • 39. Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.
    Ohta N, Hori M, Takahashi A, Ogura M, Makino H, Tamanaha T, Fujiyama H, Miyamoto Y, Harada-Shiba M.
    J Clin Lipidol; 2016 Mar 01; 10(3):547-555.e5. PubMed ID: 27206942
    [Abstract] [Full Text] [Related]

  • 40. Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
    Chiou KR, Charng MJ.
    Am J Cardiol; 2010 Jun 15; 105(12):1752-8. PubMed ID: 20538126
    [Abstract] [Full Text] [Related]

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