-
1دورية أكاديمية
المؤلفون: Laurens F. Reeskamp, Andrea Venema, Joao P.Belo Pereira, Evgeni Levin, Max Nieuwdorp, Albert K. Groen, Joep C. Defesche, Aldo Grefhorst, Peter Henneman, G.Kees Hovingh
المصدر: EBioMedicine, Vol 61, Iss , Pp 103079- (2020)
مصطلحات موضوعية: Familial hypercholesterolemia, LDLR, DNA methylation, Epigenetics, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Linda C. Zuurbier, Joep C. Defesche, Albert Wiegman
المصدر: Genes, Vol 12, Iss 8, p 1168 (2021)
مصطلحات موضوعية: dyslipidemia, familial hypercholesterolemia, cholesterol, lipids, genetic screening, Genetics, QH426-470
وصف الملف: electronic resource
-
3
المؤلفون: M Doortje Reijman, Anja Schweizer, Amy L H Peterson, Eric Bruckert, Christian Stratz, Joep C Defesche, Robert A Hegele, Albert Wiegman
المساهمون: Human Genetics, ACS - Atherosclerosis & ischemic syndromes, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Heart failure & arrhythmias
المصدر: European journal of preventive cardiology, 29(9), 1361-1368. SAGE Publications Ltd
مصطلحات موضوعية: Adult, Adolescent, Double-blind method, Epidemiology, Anticholesteremic Agents, Cholesterol, LDL, Hyperlipoproteinaemia type II, Inclisiran, Proprotein convertase 9, LDL, Hyperlipoproteinemia Type II, Cholesterol, Small interfering, Cardiovascular Diseases, Paediatric, Humans, RNA, RNA, Small Interfering, Cardiology and Cardiovascular Medicine, Child
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::146e988c8d4e6433d1e94a54589d00b6
http://www.scopus.com/inward/record.url?scp=85134755292&partnerID=8YFLogxK -
4
المؤلفون: Linda Zuurbier, Amand F. Schmidt, Arjen J. Cupido, Erik S.G. Stroes, Joep C. Defesche, Laurens F. Reeskamp, G. Kees Hovingh, Tycho R Tromp
المساهمون: Graduate School, Vascular Medicine, ACS - Atherosclerosis & ischemic syndromes, Experimental Vascular Medicine, ACS - Amsterdam Cardiovascular Sciences, Cardiology, Human Genetics
المصدر: Atherosclerosis, 340, 61-67. Elsevier Ireland Ltd
مصطلحات موضوعية: Heterozygote, Multifactorial Inheritance, medicine.medical_specialty, Hypercholesterolemia, Population, Familial hypercholesterolemia, Single-nucleotide polymorphism, Age and sex, Hyperlipoproteinemia Type II, Coronary artery disease, LDL-Cholesterol, Risk Factors, Internal medicine, medicine, Humans, In patient, Clinical significance, education, education.field_of_study, business.industry, Polygenic trait, Cholesterol, LDL, medicine.disease, Cardiovascular disease, Risk prediction, Cohort, Cardiology and Cardiovascular Medicine, business, SNPs
-
5
المؤلفون: Tycho R. Tromp, M. Doortje Reijman, Albert Wiegman, G. Kees Hovingh, Joep C. Defesche, Merel C. van Maarle, Inge B. Mathijssen
المساهمون: Amsterdam Reproduction & Development (AR&D), Human genetics, Graduate School, Vascular Medicine, ACS - Atherosclerosis & ischemic syndromes, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Experimental Vascular Medicine, ACS - Amsterdam Cardiovascular Sciences, Human Genetics, ARD - Amsterdam Reproduction and Development
المصدر: Journal of clinical lipidology, 17(2), 291-296. Elsevier BV
Tromp, T R, Reijman, M D, Wiegman, A, Hovingh, G K, Defesche, J C, van Maarle, M C & Mathijssen, I B 2023, ' Counseling couples at risk of having a child with homozygous familial hypercholesterolemia – Clinical experience and recommendations ', Journal of clinical lipidology, vol. 17, no. 2, pp. 291-296 . https://doi.org/10.1016/j.jacl.2022.12.006مصطلحات موضوعية: Nutrition and Dietetics, Pregnancy, Endocrinology, Diabetes and Metabolism, Internal Medicine, Pre-implantation genetic testing, Prenatal diagnosis, Homozygous familial hypercholesterolemia, Cardiology and Cardiovascular Medicine, Genetic counseling
-
6
المؤلفون: Joep C. Defesche, John J.P. Kastelein, Shirin Ibrahim
المصدر: Expert review of molecular diagnostics. 21(9):887-895
مصطلحات موضوعية: cascade screening, Familial hypercholesterolemia, Context (language use), polygenic, Disease, Computational biology, Genetic analysis, Pathology and Forensic Medicine, Hyperlipoproteinemia Type II, monogenic, Genetics, Humans, Medicine, Genetic Testing, Molecular Biology, Reimbursement, Genetic testing, medicine.diagnostic_test, Health professionals, business.industry, High-Throughput Nucleotide Sequencing, medicine.disease, phenotypic, Cardiovascular Diseases, Mutation, Molecular Medicine, next-generation sequencing, business, Genetic diagnosis
-
7
المؤلفون: Tycho R Tromp, Merel L Hartgers, G Kees Hovingh, Antonio J Vallejo-Vaz, Kausik K Ray, Handrean Soran, Tomas Freiberger, Stefano Bertolini, Mariko Harada-Shiba, Dirk J Blom, Frederick J Raal, Marina Cuchel, Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh, Antonio J. Vallejo-Vaz, Kausik K. Ray, Stefano A. Bertolini, Jing Pang, Gerald F. Watts, Susanne Greber-Platzer, Martin Mäser, Thomas M. Stulnig, Christoph F. Ebenbichler, Khalid Bin Thani, David Cassiman, Olivier S. Descamps, Daisy Rymen, Peter Witters, Raul D. Santos, Liam R. Brunham, Gordon A. Francis, Jacques Genest, Robert A. Hegele, Brooke A. Kennedy, Isabelle Ruel, Mark H. Sherman, Long Jiang, Luya Wang, Željko Reiner, Vladimir Blaha, Richard Ceska, Jana Dvorakova, Lubomir Dlouhy, Pavel Horak, Vladimir Soska, Lukas Tichy, Robin Urbanek, Helena Vaverkova, Michal Vrablik, Stanislav Zemek, Lukas Zlatohlavek, Sameh Emil, Tarek Naguib, Ashraf Reda, Sophie Béliard, Eric Bruckert, Antonio Gallo, Moses S. Elisaf, Genovefa Kolovou, Hofit Cohen, Ronen Durst, Eldad J. Dann, Avishay Elis, Osama Hussein, Eran Leitersdorf, Daniel Schurr, Nitika Setia, Ishwar C. Verma, Mohammed D. Alareedh, Mutaz Al-Khnifsawi, Ali F. Abdalsahib Al-Zamili, Sabah H. Rhadi, Foaad K. Shaghee, Marcello Arca, Maurizio Averna, Andrea Bartuli, Marco Bucci, Paola S. Buonuomo, Paolo Calabrò, Sebastiano Calandra, Manuela Casula, Alberico L. Catapano, Angelo B. Cefalù, Arrigo F.G. Cicero, Sergio D'Addato, Laura D'Erasmo, Alessia Di Costanzo, Tommaso Fasano, Marta Gazzotti, Antonina Giammanco, Gabriella Iannuzzo, Anastasia Ibba, Emanuele A. Negri, Andrea Pasta, Chiara Pavanello, Livia Pisciotta, Claudio Rabacchi, Carlo Ripoli, Tiziana Sampietro, Francesco Sbrana, Fulvio Sileo, Patrizia Suppressa, Patrizia Tarugi, Chiara Trenti, Maria G. Zenti, Mika Hori, Mahmoud H. Ayesh, Sami T. Azar, Fadi F. Bitar, Akl C. Fahed, Elie M. Moubarak, Georges Nemer, Hapizah M. Nawawi, Ramón Madriz, Roopa Mehta, Arjen J. Cupido, Joep C. Defesche, M. Doortje Reijman, Jeanine E. Roeters-van Lennep, Erik S.G. Stroes, Albert Wiegman, Linda Zuurbier, Khalid Al-Waili, Fouzia Sadiq, Krzysztof Chlebus, Mafalda Bourbon, Isabel M. Gaspar, Katarina S. Lalic, Marat V. Ezhov, Andrey V. Susekov, Urh Groselj, Min-Ji Charng, Weerapan Khovidhunkit, Melih Aktan, Bulent B. Altunkeser, Sinan Demircioglu, Melis Kose, Cumali Gokce, Osman Ilhan, Meral Kayikcioglu, Leyla G. Kaynar, Irfan Kuku, Erdal Kurtoglu, Harika Okutan, Osman I. Ozcebe, Zafer Pekkolay, Saim Sag, Osman Z. Salcioglu, Ahmet Temizhan, Mustafa Yenercag, Mehmet Yilmaz, Hamiyet Yilmaz Yasar, Olena Mitchenko, Alexander R.M. Lyons, Christophe A.T. Stevens, Julie A. Brothers, Lisa C. Hudgins, Christina Nguyen, Rano Alieva, Aleksandr Shek, Doan-Loi Do, Ngoc-Thanh Kim, Hong-An Le, Thanh-Tung Le, Mai-Ngoc T. Nguyen, Thanh-Huong Truong, Dirk J. Blom, Frederick J. Raal
المساهمون: VU University medical center, Tromp T.R., Hartgers M.L., Hovingh G.K., Vallejo-Vaz A.J., Ray K.K., Soran H., Freiberger T., Bertolini S., Harada-Shiba M., Blom D.J., Raal F.J., Cuchel M., Bertolini S.A., Pang J., Watts G.F., Greber-Platzer S., Maser M., Stulnig T.M., Ebenbichler C.F., Bin Thani K., Cassiman D., Descamps O.S., Rymen D., Witters P., Santos R.D., Brunham L.R., Francis G.A., Genest J., Hegele R.A., Kennedy B.A., Ruel I., Sherman M.H., Jiang L., Wang L., Reiner Z., Blaha V., Ceska R., Dvorakova J., Dlouhy L., Horak P., Soska V., Tichy L., Urbanek R., Vaverkova H., Vrablik M., Zemek S., Zlatohlavek L., Emil S., Naguib T., Reda A., Beliard S., Bruckert E., Gallo A., Elisaf M.S., Kolovou G., Cohen H., Durst R., Dann E.J., Elis A., Hussein O., Leitersdorf E., Schurr D., Setia N., Verma I.C., Alareedh M.D., Al-Khnifsawi M., Abdalsahib Al-Zamili A.F., Rhadi S.H., Shaghee F.K., Arca M., Averna M., Bartuli A., Bucci M., Buonuomo P.S., Calabro P., Calandra S., Casula M., Catapano A.L., Cefalu A.B., Cicero A.F.G., D'Addato S., D'Erasmo L., Di Costanzo A., Fasano T., Gazzotti M., Giammanco A., Iannuzzo G., Ibba A., Negri E.A., Pasta A., Pavanello C., Pisciotta L., Rabacchi C., Ripoli C., Sampietro T., Sbrana F., Sileo F., Suppressa P., Tarugi P., Trenti C., Zenti M.G., Hori M., Ayesh M.H., Azar S.T., Bitar F.F., Fahed A.C., Moubarak E.M., Nemer G., Nawawi H.M., Madriz R., Mehta R., Cupido A.J., Defesche J.C., Reijman M.D., Roeters-van Lennep J.E., Stroes E.S.G., Wiegman A., Zuurbier L., Al-Waili K., Sadiq F., Chlebus K., Bourbon M., Gaspar I.M., Lalic K.S., Ezhov M.V., Susekov A.V., Groselj U., Charng M.-J., Khovidhunkit W., Aktan M., Altunkeser B.B., Demircioglu S., Kose M., Gokce C., Ilhan O., Kayikcioglu M., Kaynar L.G., Kuku I., Kurtoglu E., Okutan H., Ozcebe O.I., Pekkolay Z., Sag S., Salcioglu O.Z., Temizhan A., Yenercag M., Yilmaz M., Yilmaz Yasar H., Mitchenko O., Lyons A.R.M., Stevens C.A.T., Brothers J.A., Hudgins L.C., Nguyen C., Alieva R., Shek A., Do D.-L., Kim N.-T., Le H.-A., Le T.-T., Nguyen M.-N.T., Truong T.-H., University of Amsterdam, University of Pennsylvania, European Atherosclerosis Society, Experimental Vascular Medicine, Graduate School, Vascular Medicine, ACS - Atherosclerosis & ischemic syndromes, Human Genetics, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Heart failure & arrhythmias, R Tromp, Tycho, L Hartgers, Merel, Kees Hovingh, G, J Vallejo-Vaz, Antonio, K Ray, Kausik, Soran, Handrean, Freiberger, Toma, A Bertolini, Stefano, Harada-Shiba, Mariko, Pang, Jing, F Watts, Gerald, Greber-Platzer, Susanne, Mäser, Martin, M Stulnig, Thoma, F Ebenbichler, Christoph, Bin Thani, Khalid, Cassiman, David, S Descamps, Olivier, Rymen, Daisy, Witters, Peter, D Santos, Raul, R Brunham, Liam, A Francis, Gordon, Genest, Jacque, A Hegele, Robert, A Kennedy, Brooke, Ruel, Isabelle, H Sherman, Mark, Jiang, Long, Wang, Luya, Reiner, Željko, Blaha, Vladimir, Ceska, Richard, Dvorakova, Jana, Dlouhy, Lubomir, Horak, Pavel, Soska, Vladimir, Tichy, Luka, Urbanek, Robin, Vaverkova, Helena, Vrablik, Michal, Zemek, Stanislav, Zlatohlavek, Luka, Emil, Sameh, Naguib, Tarek, Reda, Ashraf, Béliard, Sophie, Bruckert, Eric, Gallo, Antonio, S Elisaf, Mose, Kolovou, Genovefa, Cohen, Hofit, Durst, Ronen, J Dann, Eldad, Elis, Avishay, Hussein, Osama, Leitersdorf, Eran, Schurr, Daniel, Setia, Nitika, C Verma, Ishwar, D Alareedh, Mohammed, Al-Khnifsawi, Mutaz, F Abdalsahib Al-Zamili, Ali, H Rhadi, Sabah, K Shaghee, Foaad, Arca, Marcello, Averna, Maurizio, Bartuli, Andrea, Bucci, Marco, S Buonuomo, Paola, Calabrò, Paolo, Calandra, Sebastiano, Casula, Manuela, L Catapano, Alberico, B Cefalù, Angelo, G Cicero, Arrigo F, D'Addato, Sergio, D'Erasmo, Laura, Di Costanzo, Alessia, Fasano, Tommaso, Gazzotti, Marta, Giammanco, Antonina, Iannuzzo, Gabriella, Ibba, Anastasia, A Negri, Emanuele, Pasta, Andrea, Pavanello, Chiara, Pisciotta, Livia, Rabacchi, Claudio, Ripoli, Carlo, Sampietro, Tiziana, Sbrana, Francesco, Sileo, Fulvio, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, G Zenti, Maria, Hori, Mika, H Ayesh, Mahmoud, T Azar, Sami, F Bitar, Fadi, C Fahed, Akl, M Moubarak, Elie, Nemer, George, M Nawawi, Hapizah, Madriz, Ramón, Mehta, Roopa, J Cupido, Arjen, C Defesche, Joep, Doortje Reijman, M, E Roeters-van Lennep, Jeanine, G Stroes, Erik S, Wiegman, Albert, Zuurbier, Linda, Al-Waili, Khalid, Sadiq, Fouzia, Chlebus, Krzysztof, Bourbon, Mafalda, M Gaspar, Isabel, S Lalic, Katarina, V Ezhov, Marat, V Susekov, Andrey, Groselj, Urh, Charng, Min-Ji, Khovidhunkit, Weerapan, Aktan, Melih, B Altunkeser, Bulent, Demircioglu, Sinan, Kose, Meli, Gokce, Cumali, Ilhan, Osman, Kayikcioglu, Meral, G Kaynar, Leyla, Kuku, Irfan, Kurtoglu, Erdal, Okutan, Harika, I Ozcebe, Osman, Pekkolay, Zafer, Sag, Saim, Z Salcioglu, Osman, Temizhan, Ahmet, Yenercag, Mustafa, Yilmaz, Mehmet, Yilmaz Yasar, Hamiyet, Mitchenko, Olena, M Lyons, Alexander R, T Stevens, Christophe A, A Brothers, Julie, C Hudgins, Lisa, Nguyen, Christina, Alieva, Rano, Shek, Aleksandr, Do, Doan-Loi, Kim, Ngoc-Thanh, Le, Hong-An, Le, Thanh-Tung, T Nguyen, Mai-Ngoc, Truong, Thanh-Huong, J Blom, Dirk, J Raal, Frederick, Cuchel, Marina
المصدر: Homozygous Familial Hypercholesterolaemia International Clinical Collaborators 2022, ' Worldwide experience of homozygous familial hypercholesterolaemia : retrospective cohort study ', The Lancet, vol. 399, no. 10326, pp. 719-728 . https://doi.org/10.1016/S0140-6736(21)02001-8
The Lancet, 399(10326), 719-728. Elsevier Limitedمصطلحات موضوعية: Adult, Male, Homozygous Familial Hypercholesterolemia, Adolescent, retrospective study, CHILDREN, Doenças Cardio e Cérebro-vasculares, Cohort Studies, Young Adult, Medicine, General & Internal, General & Internal Medicine, Cardiovascular Disease, Humans, Registries, LIPOPROTEIN-APHERESIS, Child, 11 Medical and Health Sciences, Retrospective Studies, Homozygous Familial Hypercholesterolaemia International Clinical Collaborators, Science & Technology, GUIDANCE, clinical characteristic, EVOLOCUMAB, Homozygous familial hypercholesterolemia, Worldwide, Therapies, Cardiovascular disease, General Medicine, CARE, OPEN-LABEL, EFFICACY, INSIGHTS, Child, Preschool, outcome, Female, genetic, Familial Hypercholesterolaemia, Life Sciences & Biomedicine
وصف الملف: application/pdf
-
8
المؤلفون: Britt E. Heidemann, Charlotte Koopal, Alexis Baass, Joep C. Defesche, Linda Zuurbier, Monique T. Mulder, Jeanine E. Roeters van Lennep, Niels P. Riksen, Christopher Boot, A. David Marais, Frank L. J. Visseren
المصدر: Clinical Genetics, 102, 253-261
Clinical Genetics, 102, 4, pp. 253-261مصطلحات موضوعية: next generation sequencing, Genotype, dyslipidemia, familial dysbetalipoproteinemia, APOE gene, SNP, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], type III hyperlipoproteinemia, Apolipoproteins E, Phenotype, Hyperlipoproteinemia Type III, Genetics, Humans, pathogenicity, Apolipoprotein E, Genetics (clinical)
وصف الملف: application/pdf
-
9
المؤلفون: Tycho R. Tromp, Shirin Ibrahim, Nick S. Nurmohamed, Jorge Peter, Linda Zuurbier, Joep C. Defesche, Laurens F. Reeskamp, G. Kees Hovingh, Erik S.G. Stroes
المساهمون: Graduate School, Experimental Vascular Medicine, Vascular Medicine, ACS - Atherosclerosis & ischemic syndromes, ACS - Amsterdam Cardiovascular Sciences, ACS - Pulmonary hypertension & thrombosis, Human Genetics, Cardiology
المصدر: Tromp, T R, Ibrahim, S, Nurmohamed, N S, Peter, J, Zuurbier, L, Defesche, J C, Reeskamp, L F, Hovingh, G K & Stroes, E S G 2022, ' Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia ', Atherosclerosis . https://doi.org/10.1016/j.atherosclerosis.2022.11.020
Atherosclerosis. Elsevier Ireland Ltdمصطلحات موضوعية: Diagnosis, Familial hypercholesterolemia, LDL-cholesterol, Cardiology and Cardiovascular Medicine, Cardiovascular disease risk, Lipoprotein(a)
-
10
المؤلفون: Albert Wiegman, Linda Zuurbier, Joep C. Defesche
المساهمون: Human Genetics, ACS - Atherosclerosis & ischemic syndromes, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Heart failure & arrhythmias
المصدر: Genes, Vol 12, Iss 1168, p 1168 (2021)
Genes, 12(8):1168. Multidisciplinary Digital Publishing Institute (MDPI)
Genesمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Personalized treatment, Familial hypercholesterolemia, Review, Disease, 030204 cardiovascular system & hematology, QH426-470, Diagnostic tools, Hyperlipoproteinemia Type II, 03 medical and health sciences, 0302 clinical medicine, Genetic screening, medicine, Genetics, Humans, Genetic Testing, Genetics (clinical), Dyslipidemias, Netherlands, business.industry, PCSK9, High-Throughput Nucleotide Sequencing, Awareness, medicine.disease, Lipids, 030104 developmental biology, Cholesterol, Dyslipidemia, Family medicine, Pharmacogenomics, Christian ministry, business