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Page 1
Marfan syndrome.
Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE. Milewicz DM, et al. Nat Rev Dis Primers. 2021 Sep 2;7(1):64. doi: 10.1038/s41572-021-00298-7. Nat Rev Dis Primers. 2021. PMID: 34475413 Free PMC article. Review.
MFS is diagnosed based on the Ghent II nosology; genetic testing confirming the presence of a FBN1 pathogenetic variant is not always required for diagnosis but can help distinguish MFS from other heritable thoracic aortic disease syndromes that can pr …
MFS is diagnosed based on the Ghent II nosology; genetic testing confirming the presence of a FBN1 pathogenetic variant is not always requir …
The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management.
Pollock L, Ridout A, Teh J, Nnadi C, Stavroulias D, Pitcher A, Blair E, Wordsworth P, Vincent TL. Pollock L, et al. Curr Rheumatol Rep. 2021 Nov 26;23(11):81. doi: 10.1007/s11926-021-01045-3. Curr Rheumatol Rep. 2021. PMID: 34825999 Free PMC article. Review.
PURPOSE OF REVIEW: Marfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal manifestations that has a population prevalence of approximately 1 in 5-10,000 (Chiu et al. ...Finally, …
PURPOSE OF REVIEW: Marfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, …
Genetics and Precision Medicine: Heritable Thoracic Aortic Disease.
Demo E, Rigelsky C, Rideout AL, Graf M, Pariani M, Regalado E, MacCarrick G. Demo E, et al. Med Clin North Am. 2019 Nov;103(6):1005-1019. doi: 10.1016/j.mcna.2019.08.001. Epub 2019 Aug 31. Med Clin North Am. 2019. PMID: 31582001 Review.
Heritable thoracic aortic disease (HTAD) can have life-threatening consequences if not diagnosed early. ...
Heritable thoracic aortic disease (HTAD) can have life-threatening consequences if not diagnosed early. ...
Heritable thoracic aortic disease: a literature review on genetic aortopathies and current surgical management.
Mills AC, Sandhu HK, Ikeno Y, Tanaka A. Mills AC, et al. Gen Thorac Cardiovasc Surg. 2024 May;72(5):293-304. doi: 10.1007/s11748-024-02017-x. Epub 2024 Mar 14. Gen Thorac Cardiovasc Surg. 2024. PMID: 38480670 Review.
Heritable thoracic aortic disease puts patients at risk for aortic aneurysms, rupture, and dissections. ...In this review, we evaluate the current literature surrounding the diagnosis and management of heritable thoracic aortic
Heritable thoracic aortic disease puts patients at risk for aortic aneurysms, rupture, and dissections. .
Exercise and sports participation in patients with thoracic aortic disease: a review.
Thijssen CGE, Bons LR, Gökalp AL, Van Kimmenade RRJ, Mokhles MM, Pelliccia A, Takkenberg JJM, Roos-Hesselink JW. Thijssen CGE, et al. Expert Rev Cardiovasc Ther. 2019 Apr;17(4):251-266. doi: 10.1080/14779072.2019.1585807. Epub 2019 Mar 21. Expert Rev Cardiovasc Ther. 2019. PMID: 30887852
Current guidelines recommend patients with thoracic aortic disease (TAD) including inherited aortopathies to avoid heavy exercise. ...Areas covered: A systematic search was performed in Medline, Embase and Web of Science: thoracic aortic aneurys …
Current guidelines recommend patients with thoracic aortic disease (TAD) including inherited aortopathies to avoid heav …
Imaging of Heritable Thoracic Aortic Disease.
Tijmes FS, Karur GR. Tijmes FS, et al. Semin Roentgenol. 2022 Oct;57(4):364-379. doi: 10.1053/j.ro.2022.07.004. Epub 2022 Aug 16. Semin Roentgenol. 2022. PMID: 36265988 Review.
Heritable Thoracic Aortic Disease (HTAD) is caused by mutation of a gene that confers a high risk for thoracic aortic aneurysms and dissections. ...Based on consensus guidelines, prophylactic aortic replacement is indicated when a
Heritable Thoracic Aortic Disease (HTAD) is caused by mutation of a gene that confers a high risk for thoraci
Heritable Thoracic Aortic Aneurysms and Dissections.
Huang T MD, Yang B. Huang T MD, et al. Tech Vasc Interv Radiol. 2021 Jun;24(2):100747. doi: 10.1016/j.tvir.2021.100747. Epub 2021 Jul 26. Tech Vasc Interv Radiol. 2021. PMID: 34602273 Review.
A large portion of thoracic aortic aneurysms and dissections (TAAD) have a genetic etiology. In recent decades, numerous genes have been identified as associated with heritable thoracic aortic aneurysms and dissections (HTAAD), providing importa …
A large portion of thoracic aortic aneurysms and dissections (TAAD) have a genetic etiology. In recent decades, numerous genes …
Heritable thoracic aortic disorders.
Pyeritz RE. Pyeritz RE. Curr Opin Cardiol. 2014 Jan;29(1):97-102. doi: 10.1097/HCO.0000000000000023. Curr Opin Cardiol. 2014. PMID: 24284977 Review.
PURPOSE OF REVIEW: Disease of the wall of the thoracic aorta has many causes: inflammation, infection and atherosclerosis are the most common 'acquired' causes, but even these have genetic predispositions. This article deals with aortic disease due to …
PURPOSE OF REVIEW: Disease of the wall of the thoracic aorta has many causes: inflammation, infection and atherosclerosis are …
Sports Participation and Physical Activity in Individuals with Heritable Thoracic Aortic Disease and Aortopathy Conditions.
Sheppard MB, Braverman AC. Sheppard MB, et al. Clin Sports Med. 2022 Jul;41(3):511-527. doi: 10.1016/j.csm.2022.02.009. Clin Sports Med. 2022. PMID: 35710275 Review.
The evaluation and management of athletes with HTAD and aortopathy conditions requires shared decision-making encompassing the underlying condition, family history, aortic diameter, and type and intensity of sports and exercise. Mouse models of thoracic aortic
The evaluation and management of athletes with HTAD and aortopathy conditions requires shared decision-making encompassing the underlying co …
Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions.
Velvin G, Johansen H, Østertun-Geirdal A, Bathen T. Velvin G, et al. Orphanet J Rare Dis. 2023 May 19;18(1):119. doi: 10.1186/s13023-023-02709-2. Orphanet J Rare Dis. 2023. PMID: 37208760 Free PMC article. Review.
INTRODUCTION: The purpose of this study was to explore the literature on fatigue in patients with syndromic heritable thoracic aortic disease (sHTAD), including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular Ehlers Danlos syndrome (vEDS) a …
INTRODUCTION: The purpose of this study was to explore the literature on fatigue in patients with syndromic heritable thoracic
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