Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome von Sjouke, Barbara, Kusters, D Meeike, Kindt, Iris, Besseling, Joost, Defesche, Joep C, Sijbrands, Eric J G, Roeters van Lennep, Jeanine E, Stalenhoef, Anton F H, Wiegman, Albert, de Graaf, Jacqueline, Fouchier, Sigrid W, Kastelein, John J P, Hovingh, G Kees

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Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia von MAHDI MOTAZACKER, Mohammad, PIRRUCCELLO, James, ZELCER, Noam, KATHIRESAN, Sekar, FOUCHIER, Sigrid W, HUIJGEN, Roetand, DO, Ron, GABRIEL, Stacey, PETER, Jorge, ATBERT KUIVENHOVEN, Jan, DEFESCHE, Joep C, KASTELEIN, John J. P, KEES HOVINGH, G

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Update of the molecular basis of familial hypercholesterolemia in The Netherlands von Fouchier, Sigrid W., Kastelein, John J.P., Defesche, Joep C.

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Children with hypercholesterolemia of unknown cause: Value of genetic risk scores von Sjouke, Barbara, MD, Tanck, Michael W.T., PhD, Fouchier, Sigrid W., PhD, Defesche, Joep C., PhD, Hutten, B.A., PhD, Wiegman, Albert, MD PhD, Kastelein, John J.P., MD PhD, Hovingh, G. Kees, MD PhD

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Hepatic and Cardiovascular Consequences of Familial Hypobetalipoproteinemia von Sankatsing, Raaj R, Fouchier, Sigrid W, de Haan, Stefan, Hutten, Barbara A, de Groot, Eric, Kastelein, John J.P, Stroes, Erik S.G

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Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia von Fouchier, Sigrid W, Dallinga-Thie, Geesje M, Meijers, Joost C.M, Zelcer, Noam, Kastelein, John J.P, Defesche, Joep C, Hovingh, G Kees

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

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Lysosomal acid lipase A and the hypercholesterolaemic phenotype von Fouchier, Sigrid W., Defesche, Joep C.

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Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia von Sjouke, Barbara, Defesche, Joep C, de Randamie, Janine S.E, Wiegman, Albert, Fouchier, Sigrid W, Hovingh, G. Kees

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Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein von Sorrentino, Vincenzo, Fouchier, Sigrid W, Motazacker, Mohammad M, Nelson, Jessica K, Defesche, Joep C, Dallinga-Thie, Geesje M, Kastelein, John J P, Kees Hovingh, G, Zelcer, Noam

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Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement von Fouchier, Sigrid W, Hutten, Barbara A, Defesche, Joep C

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Molecular Basis of Autosomal Dominant Hypercholesterolemia: Assessment in a Large Cohort of Hypercholesterolemic Children von VAN DER GRAAF, Anouk, AVIS, Hans J, WIEGMAN, Albert, MEEIKE KUSTERS, D, VISSERS, Maud N, HUTTEN, Barbara A, DEFESCHE, Joep C, HUIJGEN, Roeland, FOUCHIER, Sigrid W, WIJBURG, Frits A, KASTELEIN, John J. P

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Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia von Huijgen, Roeland, Kindt, Iris, Fouchier, Sigrid W, Defesche, Joep C, Hutten, Barbara A, Kastelein, John J.P, Vissers, Maud N

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Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels von Huijgen, Roeland, Sjouke, Barbara, Vis, Kelly, de Randamie, Janine S.E., Defesche, Joep C., Kastelein, John J.P., Hovingh, G. Kees, Fouchier, Sigrid W.

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Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody von Hopkins, Paul N, Defesche, Joep, Fouchier, Sigrid W, Bruckert, Eric, Luc, Gérald, Cariou, Bertrand, Sjouke, Barbara, Leren, Trond P, Harada-Shiba, Mariko, Mabuchi, Hiroshi, Rabès, Jean-Pierre, Carrié, Alain, van Heyningen, Charles, Carreau, Valérie, Farnier, Michel, Teoh, Yee P, Bourbon, Mafalda, Kawashiri, Masa-aki, Nohara, Atsushi, Soran, Handrean, Marais, A David, Tada, Hayato, Abifadel, Marianne, Boileau, Catherine, Chanu, Bernard, Katsuda, Shoji, Kishimoto, Ichiro, Lambert, Gilles, Makino, Hisashi, Miyamoto, Yoshihiro, Pichelin, Matthieu, Yagi, Kunimasa, Yamagishi, Masakazu, Zair, Yassine, Mellis, Scott, Yancopoulos, George D, Stahl, Neil, Mendoza, Johanna, Du, Yunling, Hamon, Sara, Krempf, Michel, Swergold, Gary D

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

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Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia von 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

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Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia von Fouchier, Sigrid W, Rodenburg, Jessica, Defesche, Joep C, Kastelein, John J P

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Abstract 591: Genetic Risk Score Does Not Explain Hypercholesterolemic Phenotype in Children with Hypercholesterolemia of Unknown Genetic Origin von Sjouke, Barbara, Fouchier, Sigrid W, Wiegman, Albert, Kastelein, John J, Hovingh, G Kees

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Global Perspectives of Familial Hypercholesterolemia von Fouchier, Sigrid W., Defesche, Joep C., Kastelein, John J.P.

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