Genetic diagnosis of familial hypercholesterolaemia: a mutation and a rare non-pathogenic amino acid variant in the same family

Autor: Naoumova, Rossitza P, Neuwirth, Clare, Pottinger, Bruce, Whittal, Ros, Humphries, Stephen E, Soutar, Anne K

Publikováno v: In Atherosclerosis 2004 174(1):67-71

Linkage and association of haplotypes at the APOA1/C3/A4/A5 gene cluster to familial combined hyperlipidemia

Autor: Eichenbaum-Voline, Sophie, Olivier, Michael, Jones, Emma L., Naoumova, Rossitza P., Jones, Bethan, Gau, Brian, Seed, Mary, Betteridge, D. John, Galton, David J., Rubin, Edward M., Scott, James, Shoulders, Carol C., Pennacchio, Len A.

Publikováno v: Eichenbaum-Voline, Sophie; Olivier, Michael; Jones, Emma L.; Naoumova, Rossitza P.; Jones, Bethan; Gau, Brian; et al.(2002). Linkage and association of haplotypes at the APOA1/C3/A4/A5 gene cluster to familial combined hyperlipidemia. Lawrence Berkeley National Laboratory. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/5zh4g493

Combined hyperlipidemia (CHL) is a common disorder of lipid metabolism that leads to an increased risk of cardiovascular disease. The lipid profile of CHL is characterised by high levels of atherogenic lipoproteins and low levels of high-density-lipo

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http://www.escholarship.org/uc/item/5zh4g493

Drug therapy after very-low-calorie diets.

Autor: Finer, Nicholas, Finer, Susan, Naoumova, Rossitza P.

Publikováno v: American Journal of Clinical Nutrition; Jul1992 Supplement, p195S-198S, 4p

The extracranial carotid artery in familial hypercholesterolaemia: relationship of intimal-medial thickness and plaque morphology with plasma lipids and coronary heart disease.

Autor: Sidhu, Paul S., Naoumova, Rossitza P., Maher, Vincent M. G., MacSweeney, Josephine E., Neuwirth, Clare K. Y., Hollyer, Justine S., Thompson, Gilbert R.

Publikováno v: Journal of Cardiovascular Risk; Feb1996, Vol. 3 Issue 1, p61-67, 7p

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.

Autor: Jones, Bethan, Jones, Emma L., Bonney, Stephanie A., Patel, Hetal N., Mensenkamp, Arjen R., Eichenbaum-Voline, Sophie, Rudling, Mats, Myrdal, Urban, Annesi, Grazia, Naik, Sandhia, Meadows, Nigel, Quattrone, Aldo, Islam, Suhail A., Naoumova, Rossitza P., Angelin, Bo, Infante, Recaredo, Levy, Emile, Roy, Claude C., Freemont, Paul S.

Publikováno v: Nature Genetics; May2003, Vol. 34 Issue 1, p29, 3p