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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Next-generation sequencing to confirm clinical familial hypercholesterolemia
Reeskamp, Laurens F, Tromp, Tycho R, Defesche, Joep C, Grefhorst, Aldo, Stroes, Erik S G, Hovingh, G Kees, Zuurbier, Linda
Published in European journal of preventive cardiology (23.07.2021)
Published in European journal of preventive cardiology (23.07.2021)
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Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants
Huijgen, Roeland, Kindt, Iris, Defesche, Joep C, Kastelein, John J P
Published in European heart journal (01.09.2012)
Published in European heart journal (01.09.2012)
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Journal Article
ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia
Reeskamp, Laurens F., Volta, Andrea, Zuurbier, Linda, Defesche, Joep C., Hovingh, G. Kees, Grefhorst, Aldo
Published in Journal of clinical lipidology (01.03.2020)
Published in Journal of clinical lipidology (01.03.2020)
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Journal Article
Next-generation sequencing to confirm clinical familial hypercholesterolemia
Reeskamp, Laurens F, Tromp, Tycho R, Defesche, Joep C, Grefhorst, Aldo, Stroes, Erik Sg, Hovingh, G Kees, Zuurbier, Linda
Published in European journal of preventive cardiology (27.07.2020)
Published in European journal of preventive cardiology (27.07.2020)
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Abetalipoproteinemia From Previously Unreported Gene Mutations
Aers, Xavier-Philippe, Leroy, Bart P, Defesche, Joep C, Shadid, Samyah
Published in Annals of internal medicine (05.02.2019)
Published in Annals of internal medicine (05.02.2019)
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Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia
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
Published in Arteriosclerosis, thrombosis, and vascular biology (01.12.2013)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.12.2013)
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Longitudinal Evaluation and Assessment of Cardiovascular Disease in Patients With Homozygous Familial Hypercholesterolemia
Kolansky, Daniel M., MD, Cuchel, Marina, MD, PhD, Clark, Bernard J., MD, Paridon, Steve, MD, McCrindle, Brian W., MD, MPH, Wiegers, Susan E., MD, Araujo, Luis, MD, Vohra, Yogesh, MD, Defesche, Joep C., PhD, Wilson, James M., MD, Rader, Daniel J., MD
Published in The American journal of cardiology (01.12.2008)
Published in The American journal of cardiology (01.12.2008)
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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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Journal Article
Differential DNA methylation in familial hypercholesterolemia
Reeskamp, Laurens F., Venema, Andrea, Pereira, Joao P. Belo, Levin, Evgeni, Nieuwdorp, Max, Groen, Albert K., Defesche, Joep C., Grefhorst, Aldo, Henneman, Peter, Hovingh, G. Kees
Published in EBioMedicine (01.11.2020)
Published in EBioMedicine (01.11.2020)
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Journal Article
Ten years of lipoprotein apheresis for familial hypercholesterolemia in Malaysia: A creative approach by a cardiologist in a developing country
Khoo, Kah Lin, MD, FRCP, FACC, FESC, FCCP, Page, Michael M., BPharm, MBBS(Hons), Liew, Yin Mei, MBBS, FAMM, FRCP, Defesche, Joep C., PhD, Watts, Gerald F., DSc, MD, PhD, FRCP, FRACP
Published in Journal of clinical lipidology (01.09.2016)
Published in Journal of clinical lipidology (01.09.2016)
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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, Barbara 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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Journal Article
Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia
Sjouke, Barbara, MD, PhD, Yahya, Reyhana, MD, Tanck, Michael W.T., PhD, Defesche, Joep C., PhD, de Graaf, Jacqueline, MD, PhD, Wiegman, Albert, MD, PhD, Kastelein, John J.P., MD, PhD, Mulder, Monique T., PhD, Hovingh, G. Kees, MD, PhD, Roeters van Lennep, Jeanine E., MD, PhD
Published in Journal of clinical lipidology (01.03.2017)
Published in Journal of clinical lipidology (01.03.2017)
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Journal Article
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel
Sturm, Amy C, Knowles, Joshua W, Gidding, Samuel S, Ahmad, Zahid S, Ahmed, Catherine D, Ballantyne, Christie M, Baum, Seth J, Bourbon, Mafalda, Carrié, Alain, Cuchel, Marina, de Ferranti, Sarah D, Defesche, Joep C, Freiberger, Tomas, Hershberger, Ray E, Hovingh, G Kees, Karayan, Lala, Kastelein, Johannes Jacob Pieter, Kindt, Iris, Lane, Stacey R, Leigh, Sarah E, Linton, MacRae F, Mata, Pedro, Neal, William A, Nordestgaard, Børge G, Santos, Raul D, Harada-Shiba, Mariko, Sijbrands, Eric J, Stitziel, Nathan O, Yamashita, Shizuya, Wilemon, Katherine A, Ledbetter, David H, Rader, Daniel J
Published in Journal of the American College of Cardiology (07.08.2018)
Published in Journal of the American College of Cardiology (07.08.2018)
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Journal Article
Familial hypercholesterolaemia
Defesche, Joep C, Gidding, Samuel S, Harada-Shiba, Mariko, Hegele, Robert A, Santos, Raul D, Wierzbicki, Anthony S
Published in Nature reviews. Disease primers (07.12.2017)
Published in Nature reviews. Disease primers (07.12.2017)
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