Skip to main content
Have a personal or library account? Click to login
Evaluation Of Massive Parallel Sequencing As A Diagnostic Tool For Familial Hypercholesterolemia Cover

References

  1. Al-Waili, K., Al-Zidi, W. A., Al-Abri, A. R., Al-Rasadi, K., Al-Sabti, H. A., Shah, K., Al-Futaisi, A., Al-Zakwani, I., Banerjee, Y. (2013). Mutation in thegene in Omani Arab subjects with autosomal dominant hypercholesterolemia and its effect on PCSK9 protein structure..,, 48–52.
  2. Anonymous (1999). Familial Hypercholesterolemia: Report of a Second WHO Consultation., Geneva. 16 pp.
  3. Benn, M., Nordestgaard, B. G., Grande, P., Schnohr, P., Tybjaerg-Hansen, A. (2010).R46L, low-density lipoprotein cholesterol levels, and risk of ischemic heart disease: 3 independent studies and meta-analyses..,, 2833–2842.
  4. Benn, M., Watts, G. F., Tybjaerg-Hansen, A., Nordestgaard, B.G. (2012). Familial hypercholesterolemia in the danish general population: Prevalence, coronary artery disease, and cholesterol-lowering medication..,, 3956–3964.
  5. Burns, F. (1920). A contribution to the study of the etiology of xanthomata..,, 415–429.
  6. Calandra, S., Tarugi, P., Speedy, H. E., Dean, A. F., Bertolini, S., Shoulders, C. C. (2011). Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: Implications for classification and disease risk..,, 1885–1926.
  7. Chatzistefanidis, D., Markoula, S., Vartholomatos, G., Milionis, H., Miltiadous, G., Georgiou, I., Elisaf, M., Kyritsis, A. (2013). First detection of hypercholesterolemia causing ApoB-100 R3527Q mutation in a family in Greece..,, 6.
  8. Cohen, J. C., Kiss, R. S., Pertsemlidis, A., Marcel, Y. L., McPherson, R., Hobbs, H. H. (2004). Multiple rare alleles contribute to low plasma levels of HDL cholesterol.,, 869–872.
  9. Defesche, J. C., Lansberg, P. J., Umans-Eckenhausen, M. A., Kastelein, J. J. (2004). Advanced method for the identification of patients with inherited hypercholesterolemia..,, 59–65.
  10. DeMott, K., Nherera, L., Shaw, E. J., Minhas, R., Humphries, S. E., Kathoria, M., Ritchie, G., Nunes, V., Davies, D., Lee, P., McDowell, I., Neil, A., Qureshi, N., Rowlands, P., Seed, M., Stracey, H., Thorogood, M., Watson, M. (2008).London: National Collaborating Centre for Primary Care and Royal College of General Practitioners.
  11. Eden, E. R., Patel, D. D., Sun, X. M., Burden, J. J., Themis, M., Edwards, M., Lee, P., Neuwirth, C., Naoumova, R. P., Soutar, A. K. (2002). Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1..,, 1695–1702.
  12. Fasano, T., Cefalu, A. B., Di Leo, E., Noto, D., Pollaccia, D., Bocchi, L., Valenti, V., Bonardi, R., Guardamagna, O., Averna, M., Tarugi, P. (2007). A novel loss of function mutation ofgene in white subjects with low-plasma low-density lipoprotein cholesterol..,, 677–681.
  13. Fisher, E., Scharnagl, H., Hoffmann, M. M., Kusterer, K., Wittmann, D., Wieland, H., Gross, W., Marz, W. (1999). Mutations in the apolipoprotein (apo) B-100 receptor-binding region: Detection of apo B-100 (Arg3500—Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405—Gln) diminishes receptor-mediated uptake of LDL..,, 1026–1038.
  14. Garcia, C. K., Wilund, K., Arca, M., Zuliani, G., Fellin, R., Maioli, M., Calandra, S., Bertolini, S., Cossu, F., Grishin, N., Barnes, R., Cohen, J. C., Hobbs, H. H. (2001). Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.,, 1394–1398.
  15. Gaudreault, N., Ducharme, V., Lamontagne, M., Guauque-Olarte, S., Mathieu, P., Pibarot, P., Bosse, Y. (2011). Replication of genetic association studies in aortic stenosis in adults..,, 1305–1310.
  16. Graham, C. A., McClean, E., Ward, A. J., Beattie, E. D., Martin, S., O'Kane, M., Young, I. S., Nicholls, D. P. (1999). Mutation screening and genotype: phenotype correlation in familial hypercholesterolaemia.,, 309–316.
  17. Graham, C. A., McIlhatton, B. P., Kirk, C. W., Beattie, E. D., Lyttle, K., Hart, P., Neely, R. D., Young, I. S., Nicholls, D. P. (2005). Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.,, 331–340.
  18. Harada-Shiba, M., Takagi, A., Miyamoto, Y., Tsushima, M., Ikeda, Y., Yokoyama, S., Yamamoto, A. (2003). Clinical features and genetic analysis of autosomal recessive hypercholesterolemia..,, 2541–2547.
  19. Humphries, S., Whittall, R., Hubbart, C., Maplebeck, S., Cooper, J., Soutar, A., Naoumova, T., Thompson, G., Seed, M., Durrington, P., Miller, J. P., Betteridge, D. J., Neil, H. A. Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee (2006a). Genetic causes of familial hypercholesterolaemia in patients in the UK: Relation to plasma lipid levels and coronary heart disease risk..,, 943–949.
  20. Humphries, S. E., Whittall, R. A., Hubbart, C. S., Maplebeck, S., Cooper, J. A., Soutar, A. K., Naoumova, R., Thompson, G. R., Seed, M., Durrington, P. N., Miller, J. P., Betteridge, D. J., Neil, H. A.; Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee. (2006b). Genetic causes of familial hypercholesterolaemia in patients in the UK: Relation to plasma lipid levels and coronary heart disease risk..,, 943–949.
  21. Ignatovica, V., Latkovskis, G., Peculis, R., Megnis, K., Schioth, H. B., Vaivade, I., Fridmanis, D., Pirags, V., Erglis, A., Klovins, J. (2011). Single nucleotide polymorphisms of the purinergic 1 receptor are not associated with myocardial infarction in a Latvian population..,, 1917–1925.
  22. Kotowski, I. K., Pertsemlidis, A., Luke, A., Cooper, R. S., Vega, G. L., Cohen, J. C., Hobbs, H. H. (2006). A spectrum ofalleles contributes to plasma levels of low-density lipoprotein cholesterol..,, 410–422.
  23. Lamsa, R., Helisalmi, S., Herukka, S. K., Tapiola, T., Pirttila, T., Vepsalainen, S., Hiltunen, M., Soininen, H. (2008). Genetic study evaluatingpolymorphisms and Alzheimer's disease.,, 848–855.
  24. Liao, Y. C., Lin, H. F., Rundek, T., Cheng, R., Hsi, E., Sacco, R. L., Juo, S. H. (2008). Multiple genetic determinants of plasma lipid levels in Caribbean Hispanics..,, 306–312.
  25. Makela, K. M., Seppala, I., Hernesniemi, J. A., Lyytikainen, L. P., Oksala, N., Kleber, M. E., Scharnagl, H., Grammer, T. B., Baumert, J., Thorand, B., Jula, A., Hutri-Kähönen, N., Juonala, M., Laitinen, T., Laaksonen, R., Karhunen, P. J., Nikus, K. C., Nieminen, T., Laurikka, J., Kuukasjärvi, P., Tarkka, M., Viik, J., Klopp, N., Illig, T., Kettunen, J., Ahotupa, M., Viikari, J. S., Kähönen, M., Raitakari, O. T., Karakas, M., Koenig, W., Boehm, B. O., Winkelmann, B. R., März, W., Lehtimäki, T. (2012). Genome-wide association study pinpoints a new functional apolipoprotein B variant influencing oxidized low-density lipoprotein levels but not cardiovascular events: AtheroRemo Consortium..,, 73–81.
  26. Peculis, R., Latkovskis, G., Tarasova, L., Pirags, V., Erglis, A., Klovins, J. (2011). A nonsynonymous variant I248L of the adenosine A3 receptor is associated with coronary heart disease in a Latvian population..,, 907–911.
  27. Shioji, K., Mannami, T., Kokubo, Y., Inamoto, N., Takagi, S., Goto, Y., Nonogi, H., Iwai, N. (2004). Genetic variants inaffect the cholesterol level in Japanese..,, 109–114.
  28. Slack, J. (1969). Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states.,, 1380–1382.
  29. Soria, L. F., Ludwig, E. H., Clarke, H. R., Vega, G. L., Grundy, S. M., McCarthy, B. J. (1989). Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100..,, 587–591.
  30. Taylor, A., Wang, D., Patel, K., Whittall, R., Wood, G., Farrer, M., Neely, R. D., Fairgrieve, S., Nair, D., Barbir, M., Jones, J. L., Egan, S., Everdale, R., Lolin, Y., Hughes, E., Cooper, J. A., Hadfield, S. G., Norbury, G., Humphries, S. E. (2010). Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project..,, 572–580.
DOI: https://doi.org/10.2478/prolas-2014-0011 | Journal eISSN: 2255-890X (formerly 1407-009X) | Journal ISSN: 1407-009X
Language: English, Latvian
Page range: 1 - 7
Submitted on: Dec 1, 2013
Published on: Jul 14, 2015
Published by: Latvian Academy of Sciences
In partnership with: Paradigm Publishing Services

© 2015 Ilze Radoviča, Rūdolfs Bērziņs, Gustavs Latkovskis, Dāvids Fridmanis, Liene Ņikitina-Zaķe, Kārlis Ventiņš, Guna Ozola, Andrejs Ērglis, Jānis Kloviņš, published by Latvian Academy of Sciences
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.