المؤلفون: Maaike Alaerts, Gerarda van de Beek, Ilse Luyckx, Josephina Meester, Dorien Schepers, Aline Verstraeten, Johan Saenen, Emeline Van Craenenbroeck, Inge Goovaerts, Inez Rodrigus, Steven Laga, Jeroen Hendriks, Sofie Goethals, Annemieke De Wilde, Elke Smits, Philippe Jorens, Manon Huizing, Lut Van Laer, Bart Loeys

المصدر: Frontiers in Medicine, Vol 6 (2019)

مصطلحات موضوعية: cardiogenetics, biobank, sudden cardiac arrest, inherited cardiac arrhythmia, aortic aneurysm, cardiomyopathies, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fmed.2019.00198/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/6e956abb0cbe4fcea5275b12f1e4bf38

المؤلفون: Elisabeth Gillis, Ajay A. Kumar, Ilse Luyckx, Christoph Preuss, Elyssa Cannaerts, Gerarda van de Beek, Björn Wieschendorf, Maaike Alaerts, Nikhita Bolar, Geert Vandeweyer, Josephina Meester, Florian Wünnemann, Russell A. Gould, Rustam Zhurayev, Dmytro Zerbino, Salah A. Mohamed, Seema Mital, Luc Mertens, Hanna M. Björck, Anders Franco-Cereceda, Andrew S. McCallion, Lut Van Laer, Judith M. A. Verhagen, Ingrid M. B. H. van de Laar, Marja W. Wessels, Emmanuel Messas, Guillaume Goudot, Michaela Nemcikova, Alice Krebsova, Marlies Kempers, Simone Salemink, Toon Duijnhouwer, Xavier Jeunemaitre, Juliette Albuisson, Per Eriksson, Gregor Andelfinger, Harry C. Dietz, Aline Verstraeten, Bart L. Loeys, Mibava Leducq Consortium

المصدر: Frontiers in Physiology, Vol 8 (2017)

مصطلحات موضوعية: bicuspid aortic valve, thoracic aortic aneurysm, SMAD6, targeted gene panel, variant burden test, Physiology, QP1-981

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fphys.2017.00730/full; https://doaj.org/toc/1664-042X

URL الوصول: https://doaj.org/article/00bba679614b4010927e1186b126fa61

المؤلفون: Elisabeth Gillis, Ajay A. Kumar, Ilse Luyckx, Christoph Preuss, Elyssa Cannaerts, Gerarda van de Beek, Björn Wieschendorf, Maaike Alaerts, Nikhita Bolar, Geert Vandeweyer, Josephina Meester, Florian Wünnemann, Russell A. Gould, Rustam Zhurayev, Dmytro Zerbino, Salah A. Mohamed, Seema Mital, Luc Mertens, Hanna M. Björck, Anders Franco-Cereceda, Andrew S. McCallion, Lut Van Laer, Judith M. A. Verhagen, Ingrid M. B. H. van de Laar, Marja W. Wessels, Emmanuel Messas, Guillaume Goudot, Michaela Nemcikova, Alice Krebsova, Marlies Kempers, Simone Salemink, Toon Duijnhouwer, Xavier Jeunemaitre, Juliette Albuisson, Per Eriksson, Gregor Andelfinger, Harry C. Dietz, Aline Verstraeten, Bart L. Loeys, Mibava Leducq Consortium

المصدر: Frontiers in Physiology, Vol 8 (2017)

مصطلحات موضوعية: bicuspid aortic valve, thoracic aortic aneurysm, SMAD6, targeted gene panel, variant burden test, Physiology, QP1-981

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fphys.2017.00400/full; https://doaj.org/toc/1664-042X

URL الوصول: https://doaj.org/article/eaa6fdcd9b7a4bbd9409b17748a5090d

المؤلفون: Ajay Anand Kumar, Bart Loeys, Gerarda Van De Beek, Nils Peeters, Wim Wuyts, Lut Van Laer, Geert Vandeweyer, Maaike Alaerts

المصدر: Bioinformatics

مصطلحات موضوعية: Computer. Automation, Statistics and Probability, DNA Copy Number Variations, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Biochemistry, Computer Science Applications, Chemistry, Computational Mathematics, Computational Theory and Mathematics, Biology, Engineering sciences. Technology, Molecular Biology, Mathematics, Algorithms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62e1a11e27940e3bebb52264d5af59d6
https://doi.org/10.1093/bioinformatics/btac756

المؤلفون: Steven Laga, Philippe G. Jorens, Aline Verstraeten, Manon T. Huizing, Dorien Schepers, Bart Loeys, Jeroen M.H. Hendriks, Josephina A.N. Meester, Inge Goovaerts, Maaike Alaerts, Elke Smits, Johan Saenen, Inez Rodrigus, Emeline M. Van Craenenbroeck, Gerarda van de Beek, Ilse Luyckx, Lut Van Laer, Sofie Goethals, Annemieke De Wilde

المصدر: Frontiers in Medicine
Frontiers in Medicine, Vol 6 (2019)

مصطلحات موضوعية: 0301 basic medicine, cardiomyopathies, Pathology, medicine.medical_specialty, Vascular smooth muscle, 030204 cardiovascular system & hematology, Peripheral blood mononuclear cell, 03 medical and health sciences, Aortic aneurysm, chemistry.chemical_compound, 0302 clinical medicine, sudden cardiac arrest, Aortic tissue, Medicine, cardiogenetics, Induced pluripotent stem cell, lcsh:R5-920, business.industry, General Medicine, Brief Research Report, inherited cardiac arrhythmia, medicine.disease, Biobank, 3. Good health, biobank, 030104 developmental biology, chemistry, Cell culture, Human medicine, lcsh:Medicine (General), business, aortic aneurysm, DNA

وصف الملف: pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5580e56b29249ba7cfdc36a5e239cc0
http://europepmc.org/articles/PMC6742711

المؤلفون: Janneke Timmermans, Dimitra Micha, Sébastien Chénier, Thatjana Gardeitchik, Elyssa Cannaerts, Bart Loeys, Nils Peeters, Aline Verstraeten, Julie Richer, Paul Vermeersch, Gerarda van de Beek, Alessandra Maugeri, Carlo Marcelis, Dorien Schepers, Maaike Alaerts, Lut Van Laer, Marlies Kempers, Nathalie Meyten, Luc M. Beauchesne

المساهمون: Medical Genetics, Clinical sciences, Cardiology, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Amsterdam Movement Sciences - Restoration and Development, ACS - Microcirculation

المصدر: Journal of medical genetics
Cannaerts, E, Kempers, M, Maugeri, A, Marcelis, C, Gardeitchik, T, Richer, J, Micha, D, Beauchesne, L, Timmermans, J, Vermeersch, P, Meyten, N, Chénier, S B, van de Beek, G, Peeters, N, Alaerts, M, Schepers, D, van Laer, L, Verstraeten, A & Loeys, B 2019, ' Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: Further delineation of the phenotype ', Journal of Medical Genetics, vol. 56, no. 4, pp. 220-227 . https://doi.org/10.1136/jmedgenet-2018-105304
Journal of Medical Genetics, 56, 4, pp. 220-227
Journal of Medical Genetics, 56(4), 220-227. BMJ Publishing Group
Journal of Medical Genetics, 56, 220-227

مصطلحات موضوعية: 0301 basic medicine, Marfan syndrome, Pathology, medicine.medical_specialty, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Connective tissue, Dissection (medical), 030105 genetics & heredity, Loeys–Dietz syndrome, SMAD2, 03 medical and health sciences, Genetics, Medicine, Missense mutation, Genetics(clinical), Hypertelorism, Genetics (clinical), Loeys-Dietz Syndrome, business.industry, Marfanoid, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], medicine.disease, Connective tissue disease, 030104 developmental biology, medicine.anatomical_structure, connective tissue disease, aortic aneurysm and dissection, Human medicine, medicine.symptom, business, arterial aneurysmal disease, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dd4ee796d5ea9fed03b28437ceb5231
https://repository.uantwerpen.be/docman/irua/79bb4d/153443_2019_01_01.pdf

المؤلفون: Elyssa, Cannaerts, Marlies, Kempers, Alessandra, Maugeri, Carlo, Marcelis, Thatjana, Gardeitchik, Julie, Richer, Dimitra, Micha, Luc, Beauchesne, Janneke, Timmermans, Paul, Vermeersch, Nathalie, Meyten, Sébastien, Chénier, Gerarda, van de Beek, Nils, Peeters, Maaike, Alaerts, Dorien, Schepers, Lut, Van Laer, Aline, Verstraeten, Bart, Loeys

المصدر: Journal of medical genetics. 56(4)

مصطلحات موضوعية: Adult, Male, Facies, Genetic Variation, Arteries, Smad2 Protein, Middle Aged, Aneurysm, Marfan Syndrome, Pedigree, Aortic Dissection, Phenotype, Amino Acid Substitution, Mutation, Humans, Female, Genetic Predisposition to Disease, Child, Alleles, Genetic Association Studies, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a1059df5b7d38ab257d03983a5a90766
https://pubmed.ncbi.nlm.nih.gov/29967133

المؤلفون: Yline Capri, Juliette Albuisson, Patrick Bruneval, Dorien Schepers, Pascaline Letard, Nadia Belarbi, Bart Loeys, Fabien Guimiot, Anne-Lise Delezoide, Gerarda van de Beek, Emmanuel Spaggiari, Suonavy Khung-Savatovsky

المصدر: Molecular syndromology

مصطلحات موضوعية: 0301 basic medicine, Pregnancy, Pathology, medicine.medical_specialty, business.industry, Nonsense mutation, Autopsy, Prenatal diagnosis, 030105 genetics & heredity, medicine.disease, Connective tissue disease, 03 medical and health sciences, Arachnodactyly, 030104 developmental biology, Novel Insights from Clinical Practice, Genetics, medicine, Wormian bones, Human medicine, business, Genetics (clinical), Cutis laxa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2726e1366cfcda4226edd85ad1a90cfe
https://hdl.handle.net/10067/1525230151162165141

المؤلفون: Koenraad Devriendt, Hennie T. Brüggenwirth, Judith M.A. Verhagen, Gerarda van de Beek, Alexander J Doyle, Marie J ose Goumans, Jolien W. Roos-Hesselink, Bart Loeys, Noriaki Kubo, Frans W. Verheijen, Ingrid M.B.H. van de Laar, Johan Saenen, Gretchen L. Oswald, Loretha Myers, Michiel Dumoulein, Hanka Venselaar, Robert van der Helm, Marja W. Wessels, Takuro Tsukube, Luba M. Pardo, Emeline M. Van Craenenbroeck, Boudewijn P.T. Kruithof, Gareth Baynam, Gert W. A. van Cappellen, Steven Laga, Elena M. Gallo, Kenji Minatoya, Jos A. Bekkers, Berna Beverloo, Itaru Yamanaka, Lut Van Laer, Marlies Kempers, Hiroko Morisaki, Bianca M. de Graaf, Ritsu Matsukawa, Annelies de Klein, Takayuki Morisaki, Inez Rodrigus, Aida M. Bertoli-Avella, Martin Lammens, Elisabeth Gillis, Harry C. Dietz, Christina Evers, Robert M.W. Hofstra, Janneke Timmermans

المساهمون: Clinical Genetics, Cardiothoracic Surgery, Cardiology

المصدر: Journal of the American College of Cardiology
Journal of the American College of Cardiology, 65(13), 1324-1336. Elsevier Inc.
Journal of the American College of Cardiology, 65(13), 1324-1336
Journal of the American College of Cardiology, 65, 13, pp. 1324-36
Journal of the American College of Cardiology, 65, 1324-36

مصطلحات موضوعية: Male, Pathology, Tgf β pathway, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], thoracic aortic aneurysm, 030204 cardiovascular system & hematology, Loeys–Dietz syndrome, Electrocardiography, 0302 clinical medicine, Medicine, Aortic dissection, 0303 health sciences, High mortality, Middle Aged, Ligand (biochemistry), Immunohistochemistry, 3. Good health, Aortic Aneurysm, Pedigree, TGF-β pathway, cardiovascular system, TGF-beta pathway, Female, Cardiology and Cardiovascular Medicine, Adult, medicine.medical_specialty, Genotype, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Thoracic aortic aneurysm, 03 medical and health sciences, Transforming Growth Factor beta3, medicine.artery, Humans, Genetic Predisposition to Disease, gene, 030304 developmental biology, Aged, Aorta, business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Sequence Analysis, DNA, medicine.disease, Loeys-Dietz syndrome, Aortic Dissection, Mutation, Human medicine, business, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Transforming growth factor, Genome-Wide Association Study

وصف الملف: pdf; Print; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c476e7be86bdc391544b457283a9953
https://hdl.handle.net/10067/1255010151162165141

المؤلفون: Elyssa Cannaerts, Aline Verstraeten, Bart Loeys, Lut Van Laer, Gerarda van de Beek

المصدر: European Journal of Medical Genetics, 58, 695-703
European Journal of Medical Genetics, 58, 12, pp. 695-703
European journal of medical genetics

مصطلحات موضوعية: Marfan syndrome, musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Extracellular matrix component, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Bioinformatics, Loeys–Dietz syndrome, Marfan Syndrome, Translational Research, Biomedical, Craniosynostoses, Arachnodactyly, Transforming Growth Factor beta, Internal medicine, Genetics, medicine, Animals, Humans, skin and connective tissue diseases, Genetics (clinical), Loeys-Dietz Syndrome, integumentary system, biology, business.industry, Translational medicine, Shprintzen–Goldberg syndrome, General Medicine, Transforming growth factor beta, medicine.disease, Hedgehog signaling pathway, Endocrinology, biology.protein, Human medicine, business, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f88c3d58e81d20478281f6e0e67c9e
https://doi.org/10.1016/j.ejmg.2015.10.010