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Journal Abstract Search

2171 related items for PubMed ID: 12730697

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

  • 22. APOE p.Leu167del mutation in familial hypercholesterolemia.
    Awan Z, Choi HY, Stitziel N, Ruel I, Bamimore MA, Husa R, Gagnon MH, Wang RH, Peloso GM, Hegele RA, Seidah NG, Kathiresan S, Genest J.
    Atherosclerosis; 2013 Dec; 231(2):218-22. PubMed ID: 24267230
    [Abstract] [Full Text] [Related]

  • 23. How does mutant proprotein convertase neural apoptosis-regulated convertase 1 induce autosomal dominant hypercholesterolemia?
    Jirholt P, Adiels M, Borén J.
    Arterioscler Thromb Vasc Biol; 2004 Aug; 24(8):1334-6. PubMed ID: 15297286
    [No Abstract] [Full Text] [Related]

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

  • 25. Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
    Garcia-Garcia AB, Ivorra C, Martinez-Hervas S, Blesa S, Fuentes MJ, Puig O, Martín-de-Llano JJ, Carmena R, Real JT, Chaves FJ.
    Atherosclerosis; 2011 Oct; 218(2):423-30. PubMed ID: 21868016
    [Abstract] [Full Text] [Related]

  • 26. Implication of the proprotein convertase NARC-1/PCSK9 in the development of the nervous system.
    Poirier S, Prat A, Marcinkiewicz E, Paquin J, Chitramuthu BP, Baranowski D, Cadieux B, Bennett HP, Seidah NG.
    J Neurochem; 2006 Aug; 98(3):838-50. PubMed ID: 16893422
    [Abstract] [Full Text] [Related]

  • 27. Molecular spectrum of autosomal dominant hypercholesterolemia in France.
    Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C, French ADH Research Network, Boileau C, Varret M, Rabès JP.
    Hum Mutat; 2010 Nov; 31(11):E1811-24. PubMed ID: 20809525
    [Abstract] [Full Text] [Related]

  • 28. Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
    Huijgen R, Sjouke B, Vis K, de Randamie JS, Defesche JC, Kastelein JJ, Hovingh GK, Fouchier SW.
    Hum Mutat; 2012 Feb; 33(2):448-55. PubMed ID: 22095935
    [Abstract] [Full Text] [Related]

  • 29. Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: integration and evolution of genetic diagnosis.
    Di Taranto MD, D'Agostino MN, Fortunato G.
    Nutr Metab Cardiovasc Dis; 2015 Nov; 25(11):979-87. PubMed ID: 26165249
    [Abstract] [Full Text] [Related]

  • 30. 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; 196(2):659-66. PubMed ID: 17765244
    [Abstract] [Full Text] [Related]

  • 31. Statins upregulate PCSK9, the gene encoding the proprotein convertase neural apoptosis-regulated convertase-1 implicated in familial hypercholesterolemia.
    Dubuc G, Chamberland A, Wassef H, Davignon J, Seidah NG, Bernier L, Prat A.
    Arterioscler Thromb Vasc Biol; 2004 Aug; 24(8):1454-9. PubMed ID: 15178557
    [Abstract] [Full Text] [Related]

  • 32.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 33. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree.
    Timms KM, Wagner S, Samuels ME, Forbey K, Goldfine H, Jammulapati S, Skolnick MH, Hopkins PN, Hunt SC, Shattuck DM.
    Hum Genet; 2004 Mar; 114(4):349-53. PubMed ID: 14727179
    [Abstract] [Full Text] [Related]

  • 34. 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; 221(1):137-42. PubMed ID: 22244043
    [Abstract] [Full Text] [Related]

  • 35. 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; 219(2):663-6. PubMed ID: 21872251
    [Abstract] [Full Text] [Related]

  • 36. 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]

  • 37. Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.
    Chater R, Aït Chihab K, Rabès JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.
    Clin Chim Acta; 2006 Nov 01; 373(1-2):62-9. PubMed ID: 16806138
    [Abstract] [Full Text] [Related]

  • 38. LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.
    Yang KC, Su YN, Shew JY, Yang KY, Tseng WK, Wu CC, Lee YT.
    J Formos Med Assoc; 2007 Oct 01; 106(10):799-807. PubMed ID: 17964958
    [Abstract] [Full Text] [Related]

  • 39. Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.
    Jelassi A, Slimani A, Rabès JP, Jguirim I, Abifadel M, Boileau C, Najah M, M'rabet S, Mzid J, Slimane MN, Varret M.
    Clin Chim Acta; 2012 Dec 24; 414():146-51. PubMed ID: 22910581
    [Abstract] [Full Text] [Related]

  • 40. Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia.
    Leren TP, Berge KE.
    Clin Chim Acta; 2008 Nov 24; 397(1-2):92-5. PubMed ID: 18710658
    [Abstract] [Full Text] [Related]

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