Resultats de la cerca - Joep C. Defesche

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  1. 1
    Update of the molecular basis of familial hypercholesterolemia in The Netherlands

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

    Publicat 2005
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  2. 2
    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

    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 sp... per Roeland Huijgen, Iris Kindt, Joep C. Defesche, John J.P. Kastelein

    Publicat 2012
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  3. 3
    Integration of transfected LTR sequences into the c-raf proto-oncogene: activation by promoter insertion.

    Integration of transfected LTR sequences into the c-raf proto-oncogene: activation by promoter insertion. per Horst Mölders, Joep C. Defesche, Dagmar Müller, Tom I. Bonner, Ulf R. Rapp, Rolf Müller

    Publicat 1985
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  4. 4
    Low-Density Lipoprotein Receptor Gene Mutations and Cardiovascular Risk in a Large Genetic Cascade Screening Population

    Low-Density Lipoprotein Receptor Gene Mutations and Cardiovascular Risk in a Large Genetic Cascade Screening Population per M.A.W. Umans-Eckenhausen, Eric J.G. Sijbrands, John J.P. Kastelein, Joep C. Defesche

    Publicat 2002
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  5. 5
    Next-generation sequencing to confirm clinical familial hypercholesterolemia

    Next-generation sequencing to confirm clinical familial hypercholesterolemia per Laurens F. Reeskamp, Tycho R. Tromp, Joep C. Defesche, Aldo Grefhorst, Erik S.G. Stroes, G. Kees Hovingh, Linda Zuurbier

    Publicat 2020
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  6. 6
    Family History and Cardiovascular Risk in Familial Hypercholesterolemia

    Family History and Cardiovascular Risk in Familial Hypercholesterolemia per Albert Wiegman, Jessica Rodenburg, Saskia de Jongh, Joep C. Defesche, H. D. Bakker, John J.P. Kastelein, Eric J.G. Sijbrands

    Publicat 2003
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  7. 7
    Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia

    Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia per Pernette R. W. de Sauvage Nolting, Joep C. Defesche, Rudolf J.A Buirma, Barbara A. Hutten, Peter Lansberg, John J.P. Kastelein

    Publicat 2003
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  8. 8
    Mutations in <i>STAP1</i> Are Associated With Autosomal Dominant Hypercholesterolemia

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

    Publicat 2014
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  9. 9
    Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia

    Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia per Joep C. Defesche, Claudia Stefanutti, Gisle Langslet, Paul N. Hopkins, Werner Seiz, Marie T. Baccara‐Dinet, Sara Hamon, Poulabi Banerjee, John J.P. Kastelein

    Publicat 2017
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  10. 10
    Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein

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

    Publicat 2013
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  11. 11
    Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia

    Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia per Merel L. Hartgers, Joep C. Defesche, Gisle Langslet, Paul N. Hopkins, John J.P. Kastelein, Marie T. Baccara‐Dinet, Werner Seiz, Sara Hamon, Poulabi Banerjee, Claudia Stefanutti

    Publicat 2017
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  12. 12
    A Common Mutation in the Lipoprotein Lipase Gene (N291S) Alters the Lipoprotein Phenotype and Risk for Cardiovascular Disease in Patients With Familial Hypercholesterolemia

    A Common Mutation in the Lipoprotein Lipase Gene (N291S) Alters the Lipoprotein Phenotype and Risk for Cardiovascular Disease in Patients With Familial Hypercholesterolemia per Marianne E. Wittekoek, Simon N. Pimstone, Paul W.A. Reymer, Lisette Feuth, Gert-Jan Botma, Joep C. Defesche, Martin H. Prins, Michael R. Hayden, John J.P. Kastelein

    Publicat 1998
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  13. 13
    Efficacy of statins in familial hypercholesterolaemia: a long term cohort study

    Efficacy of statins in familial hypercholesterolaemia: a long term cohort study per Jorie Versmissen, Daniëlla M. Oosterveer, Mojgan Yazdanpanah, Joep C. Defesche, Dick C.G. Basart, Anho Liem, Jan Heeringa, J. C. M. Witteman, Peter Lansberg, J.J.P. Kastelein, Eric J.G. Sijbrands

    Publicat 2008
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  14. 14
    Complete Deficiency of the Low-Density Lipoprotein Receptor Is Associated With Increased Apolipoprotein B-100 Production

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

    Publicat 2005
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  15. 15
    Molecular Basis of Autosomal Dominant Hypercholesterolemia

    Molecular Basis of Autosomal Dominant Hypercholesterolemia per Anouk van der Graaf, Hans J. Avis, D. Meeike Kusters, Maud N. Vissers, Barbara A. Hutten, Joep C. Defesche, Roeland Huijgen, Sigrid W. Fouchier, Frits A. Wijburg, John J.P. Kastelein, Albert Wiegman

    Publicat 2011
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  16. 16
    Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

    Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia per Mohammad Mahdi Motazacker, James P. Pirruccello, Roeland Huijgen, Ron Do, Stacey Gabriel, Jorge Peter, Jan Albert Kuivenhoven, Joep C. Defesche, John J.P. Kastelein, G. Kees Hovingh, Noam Zelcer, Sekar Kathiresan, Sigrid W. Fouchier

    Publicat 2012
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  17. 17
    Mutations in <i>LPL</i>, <i>APOC2</i>, <i>APOA5</i>, <i>GPIHBP1</i> and <i>LMF1</i> in patients with severe hypertriglyceridaemia

    Mutations in <i>LPL</i>, <i>APOC2</i>, <i>APOA5</i>, <i>GPIHBP1</i> and <i>LMF1</i> in patients with severe hypertriglyceridaemia per Ramya Preethi Surendran, Maartje E. Visser, Steffie Heemelaar, J Wang, Jorge Peter, Joep C. Defesche, Jan Albert Kuivenhoven, Maryam Hosseini, Miklós Péterfy, John J.P. Kastelein, Christopher T. Johansen, Robert A. Hegele, Erik S.G. Stroes, Geesje M. Dallinga‐Thie

    Publicat 2012
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  18. 18
    Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome

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

    Publicat 2014
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  19. 19
    Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

    Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation per Gerald F. Watts, Samuel S. Gidding, Anthony S. Wierzbicki, Peter P. Tóth, Rodrigo Alonso, W. Virgil Brown, Éric Bruckert, Joep C. Defesche, Khoo Kah Lin, Michael Livingston, Pedro Mata, Klaus G. Parhofer, Frederick J. Raal, Raúl D. Santos, Eric J.G. Sijbrands, William G. Simpson, David Sullivan, Andrey V. Susekov, Brian Tomlinson, Albert Wiegman, Shizuya Yamashita, John J.P. Kastelein

    Publicat 2013
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  20. 20
    Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

    Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation per Gerald F. Watts, Samuel S. Gidding, Anthony S. Wierzbicki, Peter P. Tóth, Rodrigo Alonso, W. Virgil Brown, Éric Bruckert, Joep C. Defesche, Khoo Kah Lin, Michael Livingston, Pedro Mata, Klaus G. Parhofer, Frederick J. Raal, Raúl D. Santos, Eric J.G. Sijbrands, William G. Simpson, David Sullivan, Andrey V. Susekov, Brian Tomlinson, Albert Wiegman, Shizuya Yamashita, John J.P. Kastelein

    Publicat 2014
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