Screening for familial hypercholesterolaemia : Effective, safe treatments and DNA testing make screening attractive

Por Kastelein, J J P
Publicado em 2000

Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH).

Por Langlois, S, Kastelein, J J, Hayden, M R
Publicado em 1988

Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana.

Por Tuzgöl, S, Bijvoet, S M, Bruin, T, Kastelein, J J, Hayden, M R
Publicado em 1994

Thyroid Hormone Mimetics: the Past, Current Status and Future Challenges

Por Elbers, L.P.B., Kastelein, J.J.P., Sjouke, B.
Publicado no Curr Atheroscler Rep (2016)

A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.

Por Langlois, S, Deeb, S, Brunzell, J D, Kastelein, J J, Hayden, M R
Publicado em 1989

Familial Hypercholesterolemia: Present and Future Management

Por Sjouke, B., Kusters, D. M., Kastelein, J. J. P., Hovingh, G. K.
Publicado em 2011

HindIII-polymorphism in the LPL-gene detected by PCR

Por Bruin, T., Reymer, P.W.A., Groenemeyer, B.E., Talmud, P.J., Kastelein, J.J.P.
Publicado em 1991

The Pharmacokinetics and Pharmacokinetic/Pharmacodynamic Relationships of Evacetrapib Administered as Monotherapy or in Combination With Statins

Por Friedrich, S, Kastelein, J J P, James, D, Waterhouse, T, Nissen, S E, Nicholls, S J, Krueger, K A
Publicado em 2014

An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).

Por Kuivenhoven, J A, Weibusch, H, Pritchard, P H, Funke, H, Benne, R, Assmann, G, Kastelein, J J
Publicado em 1996

Triglycerides and Cardiovascular Risk

Por Harchaoui, K.E.L, Visser, M.E, Kastelein, J.J.P, Stroes, E.S, Dallinga-Thie, G.M
Publicado em 2009

A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.

Por Funke, H, von Eckardstein, A, Pritchard, P H, Albers, J J, Kastelein, J J, Droste, C, Assmann, G
Publicado em 1991

Sib-pair analysis detects elevated Lp(a) levels and large variation of Lp(a) concentration in subjects with familial defective ApoB.

Por van der Hoek, Y. Y., Lingenhel, A., Kraft, H. G., Defesche, J. C., Kastelein, J. J., Utermann, G.
Publicado em 1997

Long term statin treatment reduces lipoprotein(a) concentrations in heterozygous familial hypercholesterolaemia

Por van Wissen, S, Smilde, T J, Trip, M D, de Boo, Th, Kastelein, J J P, Stalenhoef, A F H
Publicado em 2003

Plasma levels of PCSK9 and phenotypic variability in familial hypercholesterolemia

Por Huijgen, R., Fouchier, S. W., Denoun, M., Hutten, B. A., Vissers, M. N., Lambert, G., Kastelein, J. J. P.
Publicado em 2012

Baseline cholesterol absorption and the response to ezetimibe/simvastatin therapy: a post-hoc analysis of the ENHANCE trial

Por Jakulj, L., Vissers, M. N., Groen, A. K., Hutten, B. A., Lutjohann, D., Veltri, E. P., Kastelein, J. J. P.
Publicado em 2010

Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes

Por Kusters, D. M., Huijgen, R., Defesche, J. C., Vissers, M. N., Kindt, I., Hutten, B. A., Kastelein, J. J. P.
Publicado em 2011

Family history of premature coronary heart disease and risk prediction in the EPIC-Norfolk prospective population study

Por Sivapalaratnam, S., Boekholdt, S.M., Trip, M.D., Sandhu, M.S., Luben, R., Kastelein, J.J.P., Wareham, N.J., Khaw, K.
Publicado em 2010

A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.

Por Monsalve, M V, Henderson, H, Roederer, G, Julien, P, Deeb, S, Kastelein, J J, Peritz, L, Devlin, R, Bruin, T, Murthy, M R
Publicado em 1990

Genome-Wide Association Studies in Atherosclerosis

Por Sivapalaratnam, S., Motazacker, M. M., Maiwald, S., Hovingh, G. K., Kastelein, J. J. P., Levi, M., Trip, M. D., Dallinga-Thie, G. M.
Publicado em 2011

A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene.

Por Hayden, M R, Hewitt, J, Wasmuth, J J, Kastelein, J J, Langlois, S, Conneally, M, Haines, J, Smith, B, Hilbert, C, Allard, D
Publicado em 1988