Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome
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
Published in European heart journal (01.03.2015)
Published in European heart journal (01.03.2015)
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Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia
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
Published in European heart journal (01.06.2012)
Published in European heart journal (01.06.2012)
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Update of the molecular basis of familial hypercholesterolemia in The Netherlands
Fouchier, Sigrid W., Kastelein, John J.P., Defesche, Joep C.
Published in Human mutation (01.12.2005)
Published in Human mutation (01.12.2005)
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Children with hypercholesterolemia of unknown cause: Value of genetic risk scores
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
Published in Journal of clinical lipidology (01.07.2016)
Published in Journal of clinical lipidology (01.07.2016)
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Hepatic and Cardiovascular Consequences of Familial Hypobetalipoproteinemia
Sankatsing, Raaj R, Fouchier, Sigrid W, de Haan, Stefan, Hutten, Barbara A, de Groot, Eric, Kastelein, John J.P, Stroes, Erik S.G
Published in Arteriosclerosis, thrombosis, and vascular biology (01.09.2005)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.09.2005)
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The molecular basis of familial hypercholesterolemia in The Netherlands
FOUCHIER, Sigrid W, DEFESCHE, Joep C, UMANS-ECKENHAUSEN, Marina A. W, KASTELEIN, John J. P
Published in Human genetics (01.12.2001)
Published in Human genetics (01.12.2001)
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Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations
van der Graaf, Anouk, Fouchier, Sigrid W, Vissers, Maud N, Defesche, Joep C, Wiegman, Albert, Sankatsing, Raaj R, Hutten, Barbara A, Trip, Mieke D, Kastelein, John J P
Published in Annals of internal medicine (06.05.2008)
Published in Annals of internal medicine (06.05.2008)
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Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement
Fouchier, Sigrid W, Hutten, Barbara A, Defesche, Joep C
Published in Journal of medical genetics (01.02.2015)
Published in Journal of medical genetics (01.02.2015)
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Molecular Basis of Autosomal Dominant Hypercholesterolemia: Assessment in a Large Cohort of Hypercholesterolemic Children
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
Published in Circulation (New York, N.Y.) (22.03.2011)
Published in Circulation (New York, N.Y.) (22.03.2011)
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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
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
Published in European heart journal (01.05.2013)
Published in European heart journal (01.05.2013)
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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
Huijgen, Roeland, Kindt, Iris, Fouchier, Sigrid W, Defesche, Joep C, Hutten, Barbara A, Kastelein, John J.P, Vissers, Maud N
Published in Human mutation (01.06.2010)
Published in Human mutation (01.06.2010)
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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
Huijgen, Roeland, Sjouke, Barbara, Vis, Kelly, de Randamie, Janine S.E., Defesche, Joep C., Kastelein, John J.P., Hovingh, G. Kees, Fouchier, Sigrid W.
Published in Human mutation (01.02.2012)
Published in Human mutation (01.02.2012)
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What promise does PCSK9 hold?
Kastelein, John J P, Fouchier, Sigrid W, Defesche, Joep C
Published in Journal of the American College of Cardiology (17.05.2005)
Published in Journal of the American College of Cardiology (17.05.2005)
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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
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
Published in Circulation. Cardiovascular genetics (01.12.2015)
Published in Circulation. Cardiovascular genetics (01.12.2015)
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Abstract 591: Genetic Risk Score Does Not Explain Hypercholesterolemic Phenotype in Children with Hypercholesterolemia of Unknown Genetic Origin
Sjouke, Barbara, Fouchier, Sigrid W, Wiegman, Albert, Kastelein, John J, Hovingh, G Kees
Published in Arteriosclerosis, thrombosis, and vascular biology (01.05.2014)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.05.2014)
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