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Lipid disorders

Displaying results 1-10 of 23

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  • Mutation reports:

    Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations

    • M Bourbon,
    • M A Duarte,
    • A C Alves,
    • A M Medeiros,
    • L Marques,
    • A K Soutar
    J. Med. Genet.  2009;46:352-357  doi:10.1136/jmg.2007.057000
  • Original articles:

    A PCSK9 variant and familial combined hyperlipidaemia

    • M Abifadel,
    • L Bernier,
    • G Dubuc,
    • G Nuel,
    • J-P Rabès,
    • J Bonneau,
    • A Marques,
    • M Marduel,
    • M Devillers,
    • A Munnich,
    • D Erlich,
    • M Varret,
    • M Roy,
    • J Davignon,
    • C Boileau
    J. Med. Genet.  2008;45:780-786  doi:10.1136/jmg.2008.059980
  • Original articles:

    Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population

    • Y Yamada,
    • K Kato,
    • M Oguri,
    • T Fujimaki,
    • K Yokoi,
    • H Matsuo,
    • S Watanabe,
    • N Metoki,
    • H Yoshida,
    • K Satoh,
    • S Ichihara,
    • Y Aoyagi,
    • A Yasunaga,
    • H Park,
    • M Tanaka,
    • Y Nozawa
    J. Med. Genet.  2008;45:216-221  doi:10.1136/jmg.2007.054387
  • Letters to JMG:

    Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk

    • S E Humphries,
    • R A Whittall,
    • C S Hubbart,
    • S Maplebeck,
    • J A Cooper,
    • A K Soutar,
    • R Naoumova,
    • G R Thompson,
    • M Seed,
    • P N Durrington,
    • J P Miller,
    • D J B Betteridge,
    • H A W Neil,
    • for the Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee
    J. Med. Genet.  2006;43:943-949  doi:10.1136/jmg.2006.038356
  • Letters to JMG:

    Opposite effects of interleukin 10 common gene polymorphisms in cardiovascular diseases and in successful ageing: genetic background of male centenarians is protective against coronary heart disease

    • D Lio,
    • G Candore,
    • A Crivello,
    • L Scola,
    • G Colonna-Romano,
    • L Cavallone,
    • E Hoffmann,
    • M Caruso,
    • F Licastro,
    • C M Caldarera,
    • A Branzi,
    • C Franceschi,
    • C Caruso
    J. Med. Genet.  2004;41:790-794  doi:10.1136/jmg.2004.019885
  • Letters to JMG:

    Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

    • S Molleran Lee,
    • J Villanueva,
    • J Sumegi,
    • K Zhang,
    • K Kogawa,
    • J Davis,
    • A H Filipovich
    J. Med. Genet.  2004;41:137-144  doi:10.1136/jmg.2003.011528
  • Letters to JMG:

    Association of single nucleotide polymorphisms in the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction

    • R Mango,
    • F Clementi,
    • P Borgiani,
    • G B Forleo,
    • M Federici,
    • G Contino,
    • E Giardina,
    • L Garza,
    • I E Fahdi,
    • R Lauro,
    • J L Mehta,
    • G Novelli,
    • F Romeo
    J. Med. Genet.  2003;40:933-936  doi:10.1136/jmg.40.12.933
  • Letters to JMG:

    Effect of the peroxisome proliferator activated receptor-{gamma} gene Pro12Ala variant on body mass index: a meta-analysis

    • S Masud,
    • S Ye
    J. Med. Genet.  2003;40:773-780  doi:10.1136/jmg.40.10.773
  • Letters to JMG:

    A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

    • S Yzer,
    • L I van den Born,
    • J Schuil,
    • H Y Kroes,
    • M M van Genderen,
    • F N Boonstra,
    • B van den Helm,
    • H G Brunner,
    • R K Koenekoop,
    • F P M Cremers
    J. Med. Genet.  2003;40:709-713  doi:10.1136/jmg.40.9.709
  • Letters to JMG:

    Association of genetic variants in the HDL receptor, SR-B1, with abnormal lipids in women with coronary artery disease

    • J J McCarthy,
    • T Lehner,
    • C Reeves,
    • D J Moliterno,
    • L K Newby,
    • W J Rogers,
    • E J Topol
    J. Med. Genet.  2003;40:453-458  doi:10.1136/jmg.40.6.453
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