Αποτελέσματα αναζήτησης - Joep C. Defesche
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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 sp... από Roeland Huijgen, Iris Kindt, Joep C. Defesche, John J.P. Kastelein
Έκδοση 2012Artigo -
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Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia από Pernette R. W. de Sauvage Nolting, Joep C. Defesche, Rudolf J.A Buirma, Barbara A. Hutten, Peter Lansberg, John J.P. Kastelein
Έκδοση 2003Artigo -
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Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia από Joep C. Defesche, Claudia Stefanutti, Gisle Langslet, Paul N. Hopkins, Werner Seiz, Marie T. Baccara‐Dinet, Sara Hamon, Poulabi Banerjee, John J.P. Kastelein
Έκδοση 2017Artigo -
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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 από 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
Έκδοση 2013Artigo -
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Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia από 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
Έκδοση 2017Artigo -
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A Common Mutation in the Lipoprotein Lipase Gene (N291S) Alters the Lipoprotein Phenotype and Risk for Cardiovascular Disease in Patients With Familial Hypercholesterolemia από 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
Έκδοση 1998Artigo -
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Efficacy of statins in familial hypercholesterolaemia: a long term cohort study από 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
Έκδοση 2008Artigo -
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Complete Deficiency of the Low-Density Lipoprotein Receptor Is Associated With Increased Apolipoprotein B-100 Production από 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
Έκδοση 2005Artigo -
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Molecular Basis of Autosomal Dominant Hypercholesterolemia από 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
Έκδοση 2011Artigo -
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Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia από 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
Έκδοση 2012Artigo -
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Mutations in <i>LPL</i>, <i>APOC2</i>, <i>APOA5</i>, <i>GPIHBP1</i> and <i>LMF1</i> in patients with severe hypertriglyceridaemia από 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
Έκδοση 2012Artigo -
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Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome από 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
Έκδοση 2014Artigo -
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Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation από 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
Έκδοση 2013Revisão -
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Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation από 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
Έκδοση 2014Revisão -
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ClinVar database of global familial hypercholesterolemia‐associated DNA variants από Michael A. Iacocca, Joana Rita Chora, Alain Carrié, Tomáš Freiberger, S. E. A. Leigh, Joep C. Defesche, C. Lisa Kurtz, Marina T. DiStefano, Raúl D. Santos, Steve E. Humphries, Pedro Mata, Cinthia E. Jannes, Amanda J. Hooper, Katherine Wilemon, Pascale Benlian, Robert O’Connor, John Garcia, Hannah Wand, Lukáš Tichý, Eric J.G. Sijbrands, Robert A. Hegele, Mafalda Bourbon, Joshua W. Knowles
Έκδοση 2018Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Medicine
Internal medicine
Cholesterol
Familial hypercholesterolemia
Biology
Genetics
Gene
LDL receptor
Lipoprotein
Endocrinology
Apolipoprotein B
PCSK9
Disease
Environmental health
Mutation
Population
Kexin
Intensive care medicine
Allele
Compound heterozygosity
Proprotein convertase
Alirocumab
Apolipoprotein A1
Atherosclerotic cardiovascular disease
Bioinformatics
Cardiology
Exome
Exome sequencing
Family history
Family medicine