Search Results - "Defesche, Jc"

Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia by Stitziel, Nathan O, Fouchier, Sigrid W, Sjouke, Barbara, Peloso, Gina M, Moscoso, Alessa M, Auer, Paul L, Goel, Anuj, Gigante, Bruna, Barnes, Timothy A, Melander, Olle, Orho-Melander, Marju, Duga, Stefano, Sivapalaratnam, Suthesh, Nikpay, Majid, Martinelli, Nicola, Girelli, Domenico, Jackson, Rebecca D, Kooperberg, Charles, Lange, Leslie A, Ardissino, Diego, McPherson, Ruth, Farrall, Martin, Watkins, Hugh, Reilly, Muredach P, Rader, Daniel J, de Faire, Ulf, Schunkert, Heribert, Erdmann, Jeanette, Samani, Nilesh J, Charnas, Lawrence, Altshuler, David, Gabriel, Stacey, Kastelein, John J.P, Defesche, Joep C, Nederveen, Aart J, Kathiresan, Sekar, Hovingh, G Kees

“…OBJECTIVE—Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol…”
Get full text

Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands by Umans-Eckenhausen, Marina AW, Defesche, Joep C, Sijbrands, Eric JG, Scheerder, Robert LJM, Kastelein, John JP

“…Familial hypercholesterolaemia is a common lipid disorder that predisposes for premature cardiovascular disease (CVD). We set up a screening programme in the…”
Get full text

Family history and cardiovascular risk in familial hypercholesterolemia: Data in more than 1000 children by WIEGMAN, Albert, RODENBURG, Jessica, DE JONGH, Saskia, DEFESCHE, Joep C, BAKKER, Henk D, KASTELEIN, John J. P, SIJBRANDS, Eric J. G

“…Elevated LDL cholesterol (LDL-C) levels in childhood predict cardiovascular disease (CVD) later in life. Familial hypercholesterolemia (FH) represents the…”
Get full text

The molecular basis of familial hypercholesterolemia in The Netherlands by FOUCHIER, Sigrid W, DEFESCHE, Joep C, UMANS-ECKENHAUSEN, Marina A. W, KASTELEIN, John J. P

“…Mutations in the low-density lipoprotein (LDL) receptor gene are responsible for familial hypercholesterolemia (FH). At present, more than 600 mutations in…”
Get full text

Complete Deficiency of the Low-Density Lipoprotein Receptor Is Associated With Increased Apolipoprotein B-100 Production by Millar, John S, Maugeais, Cyrille, Ikewaki, Katsunori, Kolansky, Daniel M, Barrett, P Hugh R, Budreck, Elaine C, Boston, Raymond C, Tada, Norio, Mochizuki, Seibu, Defesche, Joep C, Wilson, James M, Rader, Daniel J

“…OBJECTIVE—We addressed the role of the low-density lipoprotein (LDL) receptor in determining clearance rates and production rate (PR) of apolipoprotein B…”
Get full text

Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis by Huijgen, R, Stork, ADM, Defesche, JC, Peter, J, Alonso, R, Cuevas, A, Kastelein, JJP, Duran, M, Stroes, ESG

“…Huijgen R, Stork ADM, Defesche JC, Peter J, Alonso R, Cuevas A, Kastelein JJP, Duran M, Stroes ESG. Extreme xanthomatosis in patients with both familial…”
Get full text

Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population by UMANS-ECKENHAUSEN, Marina A. W, SIJBRANDS, Eric J. G, KASTELEIN, John J. P, DEFESCHE, Joep C

“…A large cohort of patients with familial hypercholesterolemia (FH), free from selection for cardiovascular disease (CVD), and their unaffected relatives was…”
Get full text

Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia by De Sauvage Nolting, P. R. W., Defesche, J. C., Buirma, R. J. A., Hutten, B. A., Lansberg, P. J., Kastelein, J. J. P.

“…  de Sauvage Nolting PRW, Defesche JC, Buirma RJA, Hutten BA, Lansberg PJ, Kastelein JJP (Academic Medical Center, Amsterdam; Clinical Research, Haarlem;…”
Get full text

High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent by Fouchier, S W, Sankatsing, R R, Peter, J, Castillo, S, Pocovi, M, Alonso, R, Kastelein, J J P, Defesche, J C

“…Background: Familial hypobetalipoproteinaemia (FHBL) is an autosomal co-dominant hereditary disorder of lipoprotein metabolism characterised by decreased low…”
Get full text

Phenotypic variability in familial hypercholesterolaemia: an update by Jansen, Angelique C M, van Wissen, Sanne, Defesche, Joep C, Kastelein, John J P

“…Heterozygous familial hypercholesterolaemia is among the most common inherited dominant disorders, and is characterized by severely elevated LDL-cholesterol…”
Get full text

Genetic Determinants of Cardiovascular Disease Risk in Familial Hypercholesterolemia by Jansen, Angelique C.M, van Aalst-Cohen, Emily S, Tanck, Michael W.T, Cheng, Suzanne, Fontecha, Marcel R, Li, Jia, Defesche, Joep C, Kastelein, John J.P

“…OBJECTIVE—To investigate the contribution of polymorphisms in multiple candidate genes to cardiovascular disease (CVD) risk in a large cohort of patients with…”
Get full text

Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing by Defesche, JC, Schuurman, EJM, Klaaijsen, LN, Khoo, KL, Wiegman, A, Stalenhoef, AFH

“…In a large group of patients with the clinical phenotype of familial hypercholesterolemia, such as elevated low‐density lipoprotein (LDL) cholesterol and…”
Get full text

Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent–offspring study by Koeijvoets, Kristel C.M.C., Wiegman, Albert, Rodenburg, Jessica, Defesche, Joep C., Kastelein, John J.P., Sijbrands, Eric J.G.

“…Studies on the clinical consequences of different low-density lipoprotein (LDL) receptor genotypes in adult patients have yielded conflicting results. We…”
Get full text

Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia by VAN AALST-COHEN, Emily S, JANSEN, Angelique C. M, BOEKHOLDT, S. Matthijs, TANCK, Michael W. T, FONTECHA, Marcel R, CHENG, Suzanne, JIA LI, DEFESCHE, Joep C, KUIVENHOVEN, Jan Albert, KASTELEIN, John J. P

“…The objective of this study was to determine the extent to which common genetic variants can explain the variation of high-density lipoprotein cholesterol…”
Get full text

Mortality Over Two Centuries In Large Pedigree With Familial Hypercholesterolaemia: Family Tree Mortality Study by Sijbrands, Eric J. G., Westendorp, Rudi G. J., Defesche, Joep C., de Meier, Paul H. E. M., Smelt, Augustinus H. M., Kastelein, John J. P.

“…Objective To estimate all cause mortality from untreated familial hypercholesterolaemia free from selection for coronary artery disease. Design Family tree…”
Get full text

What promise does PCSK9 hold? by Kastelein, John J P, Fouchier, Sigrid W, Defesche, Joep C

Get full text

Recent Origin and Spread of a Common Lithuanian Mutation, G197del LDLR, Causing Familial Hypercholesterolemia: Positive Selection Is Not Always Necessary to Account for Disease Incidence among Ashkenazi Jews by Durst, Ronen, Colombo, Roberto, Shpitzen, Shoshi, Avi, Liat Ben, Friedlander, Yechiel, Wexler, Roni, Raal, Frederick J., Marais, David A., Defesche, Joep C., Mandelshtam, Michail Y., Kotze, Maritha J., Leitersdorf, Eran, Meiner, Vardiella

“…G197del is the most prevalent LDL receptor (LDLR) mutation causing familial hypercholesterolemia (FH) in Ashkenazi Jew (AJ) individuals. The purpose of this…”
Get full text

Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia by FOUCHIER, Sigrid W, RODENBURG, Jessica, DEFESCHE, Joep C, KASTELEIN, John J. P

“…Inherited, or autosomal dominant, hypercholesterolaemia, with an average global prevalence of one in 500 individuals, is one of the most frequent inherited…”
Get full text

Molecular genetics and gene expression in atherosclerosis by Doevendans, Pieter A, Jukema, Wouter, Spiering, Wilko, Defesche, Joep C, Kastelein, John J.P

“…Although molecular cardiology is a relative young discipline, the impact of the new techniques on diagnosis and therapy in cardiovascular disease are…”
Get full text

A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia by WITTEKOEK, M. E, PIMSTONE, S. N, REYMER, P. W. A, FEUTH, L, BOTMA, G.-J, DEFESCHE, J. C, PRINS, M, HAYDEN, M. R, KASTELEIN, J. J. P

“…Recently, a mutation in the lipoprotein lipase (LPL) gene (N291S) has been reported in 2% to 5% of individuals in western populations and is associated with…”
Get full text