المؤلفون: Jefferson J Doyle, Alexander J Doyle, Nicole K Wilson, Jennifer P Habashi, Djahida Bedja, Ryan E Whitworth, Mark E Lindsay, Florian Schoenhoff, Loretha Myers, Nick Huso, Suha Bachir, Oliver Squires, Benjamin Rusholme, Hamid Ehsan, David Huso, Craig J Thomas, Mark J Caulfield, Jennifer E Van Eyk, Daniel P Judge, Harry C Dietz, GenTAC Registry Consortium, MIBAVA Leducq Consortium

المصدر: eLife, Vol 4 (2015)

مصطلحات موضوعية: aortic aneurysm, Marfan syndrome, protein kinase C, ERK, calcium channel blocker, Amlodipine, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/08648; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/a98a5dac6d994587bd3e256372e985b0

المؤلفون: Doyle, Jefferson J., Alexander J. Doyle, Dietz, Harry C., III

المصدر: In Nelson. Tratado de pediatría Edition: 21st Edition. 2020:3740-3745

المؤلفون: M Mariyaselvam, Daniel Stolady, Alexander J. Doyle, Mark Blunt, Emma Gent, Peter Young, Gayathri Wijewardena

المصدر: Journal of critical care. 36

مصطلحات موضوعية: Insufflation, Adult, Male, Critical Care, Apnea, medicine.medical_treatment, Critical Care and Intensive Care Medicine, law.invention, 03 medical and health sciences, 0302 clinical medicine, Functional residual capacity, 030202 anesthesiology, law, medicine, Intubation, Intratracheal, Intubation, Humans, Continuous positive airway pressure, Prospective Studies, Aged, business.industry, Oxygen Inhalation Therapy, 030208 emergency & critical care medicine, Emergency department, Middle Aged, Rapid sequence induction, Intensive care unit, Respiration, Artificial, Intensive Care Units, Anesthesia, Female, medicine.symptom, Emergencies, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7516757feb58f0bc30e57f792f080cab
https://pubmed.ncbi.nlm.nih.gov/27546740

المؤلفون: Hamid Ehsan, Mark J. Caulfield, Oliver Squires, Nick Huso, Djahida Bedja, Nicole K Wilson, Jefferson J. Doyle, Jennifer P Habashi, Florian Schoenhoff, Mark E. Lindsay, David L. Huso, Benjamin Rusholme, Craig J. Thomas, Suha Bachir, Daniel P. Judge, Alexander J Doyle, Loretha Myers, Ryan Whitworth, Harry C. Dietz, Jennifer E. Van Eyk

المصدر: eLife
eLife, Vol 4 (2015)
Elife, 4
Doyle, Jefferson J; Doyle, Alexander J; Wilson, Nicole K; Habashi, Jennifer P; Bedja, Djahida; Whitworth, Ryan E; Lindsay, Mark E; Schönhoff, Florian; Myers, Loretha; Huso, Nick; Bachir, Suha; Squires, Oliver; Rusholme, Benjamin; Ehsan, Hamid; Huso, David; Thomas, Craig J; Caulfield, Mark J; Van Eyk, Jennifer E; Judge, Daniel P and Dietz, Harry C (2015). A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome. eLife, 4 eLife Sciences Publications 10.7554/eLife.08648 <http://dx.doi.org/10.7554/eLife.08648>

مصطلحات موضوعية: Marfan syndrome, Indoles, Mouse, calcium channel blocker, Calcium channel blocker, 030204 cardiovascular system & hematology, TGF-β signaling, Marfan Syndrome, chemistry.chemical_compound, Aortic aneurysm, 0302 clinical medicine, Enzastaurin, Longitudinal Studies, Biology (General), Child, Aortic dissection, 0303 health sciences, General Neuroscience, General Medicine, Hydralazine, Calcium Channel Blockers, 3. Good health, ERK, Treatment Outcome, Genes and Chromosomes, Child, Preschool, cardiovascular system, Cardiology, Medicine, aortic aneurysm, Research Article, Human, medicine.drug, Adult, medicine.medical_specialty, QH301-705.5, MAP Kinase Signaling System, medicine.drug_class, Science, 610 Medicine & health, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Thoracic aortic aneurysm, Receptor, Angiotensin, Type 1, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Internal medicine, Protein Kinase C beta, medicine, Animals, Humans, cardiovascular diseases, Amlodipine, Human Biology and Medicine, Antihypertensive Agents, 030304 developmental biology, General Immunology and Microbiology, business.industry, Calcium channel, medicine.disease, Survival Analysis, Mice, Inbred C57BL, Disease Models, Animal, Endocrinology, Verapamil, chemistry, business, protein kinase C

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab9319f79fec0c3e08f576370e81c062
https://doi.org/10.7554/elife.08648

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: Patrick Willems, Zornitza Stark, Charles Marques Lourenço, Lois J Starr, Alexander J. Doyle, Isabelle Maystadt, Michelle S. Miller, Gretchen L. Oswald, Charlotte W. Ockeloen, Geert Mortier, Michael A. Simpson, Anne Destree, Katta M. Girisha, Anneke Maat-Kievit, Sahar Mansour, Bart Loeys, Ed Blair, Loretha Myers, Jane A. Hurst, Dorien Schepers, Rick van Minkelen, Elizabeth Sparks, Hannah Titheradge, Louise Brueton, Emma Hobson, Lut Van Laer, Jeanette Hoogeboom, Helena Frysira, Harry C. Dietz

المساهمون: Clinical Genetics

المصدر: European Journal of Human Genetics, 23(2), 224-228. Nature Publishing Group
European journal of human genetics

مصطلحات موضوعية: Adult, Male, Adolescent, Mutation, Missense, Smad Proteins, Biology, Article, Marfan Syndrome, Craniosynostoses, Exon, Arachnodactyly, Proto-Oncogene Proteins, Genetics, medicine, Humans, Missense mutation, SMAD binding, Child, Gene, Genetics (clinical), Binding Sites, Shprintzen–Goldberg syndrome, Exons, Middle Aged, medicine.disease, DNA-Binding Proteins, Chemistry, Child, Preschool, Mutation testing, Female, Human medicine, human activities, Protein Binding, Binding domain

وصف الملف: pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88342e13cca5e6916d2bb9bf25a8fa3f
https://pure.eur.nl/en/publications/f20c1366-9522-4e30-bdbe-fa3d84316fba

المؤلفون: Dorien Schepers, Alexander J Doyle, Gretchen Oswald, Elizabeth Sparks, Loretha Myers, Patrick J Willems, Sahar Mansour, Michael A Simpson, Helena Frysira, Anneke Maat-Kievit, Rick Van Minkelen, Jeanette M Hoogeboom, Geert R Mortier, Hannah Titheradge, Louise Brueton, Lois Starr, Zornitza Stark, Charlotte Ockeloen, Charles Marques Lourenco, Ed Blair, Emma Hobson, Jane Hurst, Isabelle Maystadt, Anne Destree, Katta M Girisha, Michelle Miller, Harry C Dietz, Bart Loeys, Lut Van Laer

المصدر: European Journal of Human Genetics.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=erc_________::87eae3cec9f4eb06dd9d46e690f95010

المؤلفون: Raoul C.M. Hennekam, David W. Mohr, Lut Van Laer, Pamela Arn, Andrew S. McCallion, Mark E. Lindsay, Tessa Homfray, Elisabeth Gillis, Nicholas D Huso, Russell A. Norris, Anne Destree, Samantha Maragh, Geert Mortier, Alan F. Scott, Mark J. Caulfield, Alexander J Doyle, Dorien Schepers, Kimberly Sauls, Cynthia J. Curry, Seneca L. Bessling, Daniel J. Leahy, Harry C. Dietz, Bart Loeys, Jefferson J. Doyle

المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatrics

المصدر: Nature genetics
Nature genetics, 44(11), 1249-1254. Nature Publishing Group
Nature Genetics, 44, 1249-54
Nature Genetics, 44, 11, pp. 1249-54

مصطلحات موضوعية: Marfan syndrome, medicine.medical_specialty, Repressor, Biology, Proto-Oncogene Mas, TGF-β signaling, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Pathogenesis, 03 medical and health sciences, Aortic aneurysm, Craniosynostoses, Mice, 0302 clinical medicine, Transforming Growth Factor beta, Internal medicine, Proto-Oncogene Proteins, Genetics, medicine, Gene silencing, Animals, Humans, Phosphorylation, Zebrafish, Cells, Cultured, 030304 developmental biology, 0303 health sciences, Shprintzen-Goldberg syndrome, Shprintzen–Goldberg syndrome, Fibroblasts, medicine.disease, biology.organism_classification, Loeys-Dietz syndrome, SKI, DNA-Binding Proteins, Arachnodactyly, Endocrinology, Phenotype, Mutation, Cancer research, Human medicine, 030217 neurology & neurosurgery, Transforming growth factor, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae2c804dc30ca576b70e298646942f7c
https://hdl.handle.net/10067/1021460151162165141