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Title
Marfan syndrome
Authors
Keywords
-
Journal
Nature Reviews Disease Primers
Volume 7, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2021-09-02
DOI
10.1038/s41572-021-00298-7
References
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- (2021) Pauline Arnaud et al. GENETICS IN MEDICINE
- Effectiveness of self‐management programmes for adolescents with a chronic illness: A systematic review
- (2021) Jaunna Gauci et al. JOURNAL OF ADVANCED NURSING
- Comparability of different Z-score equations for aortic root dimensions in children with Marfan syndrome
- (2021) Dominiek W.E. Rutten et al. CARDIOLOGY IN THE YOUNG
- Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants
- (2021) Pauline Arnaud et al. GENETICS IN MEDICINE
- Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO
- (2021) Andrea de la Fuente-Alonso et al. Nature Communications
- Aortic Branch Aneurysms and Vascular Risk in Patients With Marfan Syndrome
- (2021) Angela Lopez-Sainz et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Value of an outpatient transition clinic for young people with inflammatory bowel disease: a mixed-methods evaluation
- (2020) Jane N T Sattoe et al. BMJ Open
- Metanalysis Examining the Usefulness of Angiotensin Receptor Blockers for the Prevention of Aortic Root Dilation in Patients with the Marfan Syndrome
- (2020) Abdullah Al-abcha et al. AMERICAN JOURNAL OF CARDIOLOGY
- Reliability of non-contrast magnetic resonance angiography-derived aortic diameters in Marfan patients: comparison of inner vs. outer vessel wall measurements
- (2020) Julius Matthias Weinrich et al. INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING
- Single-Cell Transcriptomic Profiling of Vascular Smooth Muscle Cell Phenotype Modulation in Marfan Syndrome Aortic Aneurysm
- (2020) Albert J. Pedroza et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome
- (2020) Sara L. Van Driest et al. JOURNAL OF PEDIATRICS
- Health-related quality of life in Marfan syndrome: a 10-year follow-up
- (2020) Thy Thy Vanem et al. Health and Quality of Life Outcomes
- Mitral annulus disjunction is associated with adverse outcome in Marfan and Loeys–Dietz syndromes
- (2020) Monica Chivulescu et al. European Heart Journal-Cardiovascular Imaging
- Pediatric Heart Network Echocardiographic Z Scores: Comparison with Other Published Models
- (2020) Leo Lopez et al. JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
- Therapies for Thoracic Aortic Aneurysms and Acute Aortic Dissections
- (2019) Dianna M. Milewicz et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome
- (2019) Wendell Jones et al. Disease Models & Mechanisms
- Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome
- (2019) Elena Gallo MacFarlane et al. JOURNAL OF CLINICAL INVESTIGATION
- Genetics of Thoracic and Abdominal Aortic Diseases
- (2019) Amélie Pinard et al. CIRCULATION RESEARCH
- Proximal aorta longitudinal strain predicts aortic root dilation rate and aortic events in Marfan syndrome
- (2019) Andrea Guala et al. EUROPEAN HEART JOURNAL
- Maternal and fetal outcomes in pregnancies complicated by Marfan syndrome
- (2019) Matthew Cauldwell et al. HEART
- Hospital Incidence and In‐Hospital Mortality of Surgically and Interventionally Treated Aortic Dissections: Secondary Data Analysis of the Nationwide German Diagnosis‐Related Group Statistics From 2006 to 2014
- (2019) Benedikt Reutersberg et al. Journal of the American Heart Association
- Neonatal Marfan Syndrome
- (2019) Eleonora Tognato et al. AMERICAN JOURNAL OF PERINATOLOGY
- Type B aortic dissection in young individuals with confirmed and presumed Heritable Thoracic Aortic Disease
- (2019) Sherene Shalhub et al. ANNALS OF THORACIC SURGERY
- AORTIC COMPLICATIONS IN MARFAN SYNDROME. SHOULD WE ANTICIPATE PREVENTIVE AORTIC ROOT SURGERY?
- (2019) Carlos Martín et al. ANNALS OF THORACIC SURGERY
- Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome
- (2019) Sebastien Hascoet et al. Archives of Cardiovascular Diseases
- Marfan syndrome in adolescence: adolescents’ perspectives on (physical) functioning, disability, contextual factors and support needs
- (2019) Jessica Warnink-Kavelaars et al. EUROPEAN JOURNAL OF PEDIATRICS
- Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome
- (2019) Kristina Mühlstädt et al. Journal of Clinical Medicine
- Progressive Pulmonary Artery Dilatation is Associated with Type B Aortic Dissection in Patients with Marfan Syndrome
- (2019) Christel Brouwer et al. Journal of Clinical Medicine
- Optimising Aortic Endovascular Repair in Patients with Marfan Syndrome
- (2019) Quentin Pellenc et al. EUROPEAN JOURNAL OF VASCULAR AND ENDOVASCULAR SURGERY
- Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial
- (2019) Michael Mullen et al. LANCET
- Influence of Aortic Stiffness on Aortic-Root Growth Rate and Outcome in Patients With the Marfan Syndrome
- (2018) Elif Seda Selamet Tierney et al. AMERICAN JOURNAL OF CARDIOLOGY
- Inhibition of Marfan Syndrome Aortic Root Dilation by Losartan
- (2018) Stephanie L. Sellers et al. AMERICAN JOURNAL OF PATHOLOGY
- Cell Type–Specific Contributions of the Angiotensin II Type 1a Receptor to Aorta Homeostasis and Aneurysmal Disease—Brief ReportHighlights
- (2018) Josephine Galatioto et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Redox stress in Marfan syndrome: Dissecting the role of the NADPH oxidase NOX4 in aortic aneurysm
- (2018) Francesc Jiménez-Altayó et al. FREE RADICAL BIOLOGY AND MEDICINE
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- (2018) Veronika C. Stark et al. PEDIATRIC CARDIOLOGY
- Losartan in combination with propranolol slows the aortic root dilatation in neonatal Marfan syndrome
- (2018) Lu-Hang Liu et al. Pediatrics and Neonatology
- 2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy
- (2018) Vera Regitz-Zagrosek et al. EUROPEAN HEART JOURNAL
- Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome
- (2018) Jill C. Handisides et al. JOURNAL OF PEDIATRICS
- Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
- (2018) Marjolijn Renard et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
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- (2018) Cemil Izgi et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
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- (2018) L. Wozniak-Mielczarek et al. PEDIATRIC CARDIOLOGY
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- (2018) Thy Thy Vanem et al. Molecular Genetics & Genomic Medicine
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- (2017) Jorge Oller et al. NATURE MEDICINE
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- (2017) WanWan Xu et al. OPHTHALMIC GENETICS
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- (2017) Aleksandra Mas‐Stachurska et al. Journal of the American Heart Association
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- (2016) Traci J. Speed et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- (2016) Dianna M. Milewicz et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
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- (2016) Qian Peng et al. BMC Pediatrics
- International Registry of Patients Carrying TGFBR1 or TGFBR2 MutationsCLINICAL PERSPECTIVE
- (2016) Guillaume Jondeau et al. Circulation-Cardiovascular Genetics
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- (2016) Pauline Arnaud et al. JOURNAL OF MEDICAL GENETICS
- Normal Values and Differences in Ascending Aortic Diameter in a Healthy Population of Adults as Measured by the Pediatric versus Adult American Society of Echocardiography Guidelines
- (2016) Eduardo Bossone et al. JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
- Multimodality Assessment of Ascending Aortic Diameters: Comparison of Different Measurement Methods
- (2016) José F. Rodríguez-Palomares et al. JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
- Fibrillin microfibrils in bone physiology
- (2016) Silvia Smaldone et al. MATRIX BIOLOGY
- An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death
- (2016) Alessandra Granata et al. NATURE GENETICS
- Two-dimensional transthoracic echocardiographic normal reference ranges for proximal aorta dimensions: results from the EACVI NORRE study
- (2016) Daniel Saura et al. European Heart Journal-Cardiovascular Imaging
- International Registry of Patients Carrying TGFBR1 or TGFBR2 MutationsCLINICAL PERSPECTIVE
- (2016) Guillaume Jondeau et al. Circulation-Cardiovascular Genetics
- Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC)
- (2016) Mary J. Roman et al. Journal of the American Heart Association
- Aortic dissection
- (2016) Christoph A. Nienaber et al. Nature Reviews Disease Primers
- The role of β-arrestin2-dependent signaling in thoracic aortic aneurysm formation in a murine model of Marfan syndrome
- (2015) James W. Wisler et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
- Vascular Smooth Muscle Cell Phenotypic Changes in Patients With Marfan SyndromeSignificance
- (2015) Eva Crosas-Molist et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Dimorphic Effects of Transforming Growth Factor-β Signaling During Aortic Aneurysm Progression in Mice Suggest a Combinatorial Therapy for Marfan SyndromeSignificance
- (2015) Jason R. Cook et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Survival Prospects and Circumstances of Death in Contemporary Adult Congenital Heart Disease Patients Under Follow-Up at a Large Tertiary CentreCLINICAL PERSPECTIVE
- (2015) Gerhard-Paul Diller et al. CIRCULATION
- Role of Mechanotransduction in Vascular Biology: Focus on Thoracic Aortic Aneurysms and Dissections
- (2015) J. D. Humphrey et al. CIRCULATION RESEARCH
- Beneficial Outcome of Losartan Therapy Depends on Type ofFBN1Mutation in Marfan SyndromeCLINICAL PERSPECTIVE
- (2015) Romy Franken et al. Circulation-Cardiovascular Genetics
- Marfan Sartan: a randomized, double-blind, placebo-controlled trial
- (2015) Olivier Milleron et al. EUROPEAN HEART JOURNAL
- Efficacy of losartan vs. atenolol for the prevention of aortic dilation in Marfan syndrome: a randomized clinical trial
- (2015) Alberto Forteza et al. EUROPEAN HEART JOURNAL
- Corneal stroma microfibrils
- (2015) Samuel D. Hanlon et al. EXPERIMENTAL EYE RESEARCH
- Increased aortic tortuosity indicates a more severe aortic phenotype in adults with Marfan syndrome
- (2015) Romy Franken et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Comparative assessment of ascending aortic aneurysms in Marfan patients using ECG-gated computerized tomographic angiography versus trans-thoracic echocardiography
- (2015) Myriam Amsallem et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Fibrillin-1 Regulates Skeletal Stem Cell Differentiation by Modulating TGFβ Activity Within the Marrow Niche
- (2015) Silvia Smaldone et al. JOURNAL OF BONE AND MINERAL RESEARCH
- The Risk for Type B Aortic Dissection in Marfan Syndrome
- (2015) Alexander W. den Hartog et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections
- (2015) Aida M. Bertoli-Avella et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Outcomes of Aortic Valve-Sparing Operations in Marfan Syndrome
- (2015) Tirone E. David et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Multimodality Imaging of Diseases of the Thoracic Aorta in Adults: From the American Society of Echocardiography and the European Association of Cardiovascular Imaging
- (2015) Steven A. Goldstein et al. JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
- Latent TGF-β-binding proteins
- (2015) Ian B. Robertson et al. MATRIX BIOLOGY
- The fibrillin microfibril scaffold: A niche for growth factors and mechanosensation?
- (2015) Gerhard Sengle et al. MATRIX BIOLOGY
- Prevalence, incidence, and age at diagnosis in Marfan Syndrome
- (2015) Kristian A. Groth et al. Orphanet Journal of Rare Diseases
- Aortic dissection in pregnancy in England: an incidence study using linked national databases
- (2015) Amitava Banerjee et al. BMJ Open
- Beneficial Outcome of Losartan Therapy Depends on Type ofFBN1Mutation in Marfan SyndromeCLINICAL PERSPECTIVE
- (2015) Romy Franken et al. Circulation-Cardiovascular Genetics
- Retinal Disease in Marfan Syndrome: From the Marfan Eye Consortium of Chicago
- (2015) Safa Rahmani et al. Ophthalmic Surgery Lasers & Imaging Retina
- Reference Values for Echocardiographic Assessment of the Diameter of the Aortic Root and Ascending Aorta Spanning All Age Categories
- (2014) Laurence Campens et al. AMERICAN JOURNAL OF CARDIOLOGY
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- (2014) Bartosz Rylski et al. CIRCULATION
- Systematic review of the psychosocial aspects of living with Marfan syndrome
- (2014) G. Velvin et al. CLINICAL GENETICS
- 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases
- (2014) EUROPEAN HEART JOURNAL
- Exact monitoring of aortic diameters in Marfan patients without gadolinium contrast: intraindividual comparison of 2D SSFP imaging with 3D CE-MRA and echocardiography
- (2014) Simon Veldhoen et al. EUROPEAN RADIOLOGY
- Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)
- (2014) Melanie G. Pepin et al. GENETICS IN MEDICINE
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- (2014) Gretchen MacCarrick et al. GENETICS IN MEDICINE
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- (2014) Tom Treasure et al. HEART
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- (2014) Wei Li et al. JOURNAL OF CLINICAL INVESTIGATION
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- (2014) Meghana R.K. Helder et al. JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
- Early and 1-year outcomes of aortic root surgery in patients with Marfan syndrome: A prospective, multicenter, comparative study
- (2014) Joseph S. Coselli et al. JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
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- (2014) Hsin-Hui Chiu et al. MAYO CLINIC PROCEEDINGS
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- (2014) Jordan P. Lerner-Ellis et al. MOLECULAR GENETICS AND METABOLISM
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- (2014) Ronald V. Lacro et al. NEW ENGLAND JOURNAL OF MEDICINE
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- (2014) J. D. Humphrey et al. SCIENCE
- Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy
- (2013) Ronald V. Lacro et al. AMERICAN HEART JOURNAL
- A mutation inTGFB3associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys-dietz syndrome
- (2013) Hugh Young Rienhoff et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- (2013) Laura A. Freeman et al. AMERICAN JOURNAL OF ROENTGENOLOGY
- Mitral Valve Disease in Patients with Marfan Syndrome Undergoing Aortic Root Replacement
- (2013) M. R. Kunkala et al. CIRCULATION
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- (2013) M. Groenink et al. EUROPEAN HEART JOURNAL
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- (2013) Delphine Detaint et al. HEART
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- (2013) Gisela Teixido-Tura et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
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- (2013) Artur Evangelista et al. Nature Reviews Cardiology
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- (2012) Rigmor Lundby et al. GENETICS IN MEDICINE
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- (2012) Marina Bullo et al. HYPERTENSION
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- (2012) Boris A. Hoffmann et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
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- (2012) Elisabetta M. Mariucci et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
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- (2010) Meike Rybczynski et al. AMERICAN JOURNAL OF CARDIOLOGY
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- (2009) Koichi Akutsu et al. AMERICAN JOURNAL OF CARDIOLOGY
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- (2009) K. Mortensen et al. AMERICAN JOURNAL OF HYPERTENSION
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- (2009) L. Faivre et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- (2009) Richard E. Redlinger et al. JOURNAL OF PEDIATRIC SURGERY
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- (2009) H.H. Clarice Yang et al. VASCULAR PHARMACOLOGY
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- (2009) Jean-Benoît le Polain de Waroux et al. JACC-Cardiovascular Imaging
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- (2008) Dianna M. Milewicz et al. Annual Review of Genomics and Human Genetics
- Long-Term Doxycycline Is More Effective Than Atenolol to Prevent Thoracic Aortic Aneurysm in Marfan Syndrome Through the Inhibition of Matrix Metalloproteinase-2 and -9
- (2008) Ada W.Y. Chung et al. CIRCULATION RESEARCH
- Aortic Root Measurement by Cardiovascular Magnetic Resonance
- (2008) Elisabeth D. Burman et al. Circulation-Cardiovascular Imaging
- Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation
- (2008) L Faivre et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Maternal complication of pregnancy in Marfan syndrome
- (2008) Laure Pacini et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- p38 MAPK Is an Early Determinant of Promiscuous Smad2/3 Signaling in the Aortas of Fibrillin-1 (Fbn1)-null Mice
- (2008) Luca Carta et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Targeting of Bone Morphogenetic Protein Growth Factor Complexes to Fibrillin
- (2008) Gerhard Sengle et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease
- (2008) Dong-chuan Guo et al. JOURNAL OF HUMAN GENETICS
- Angiotensin II Blockade and Aortic-Root Dilation in Marfan's Syndrome
- (2008) Benjamin S. Brooke et al. NEW ENGLAND JOURNAL OF MEDICINE
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