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Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling [PDF]
Frontiers in Cell and Developmental BiologyThe introduction of pluripotent stem cells into the field of disease modelling resulted in numerous opportunities to study and uncover disease mechanisms in a petri dish.
Jeffrey Aalders +3 more
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The Lancet, 2005 1978 www.thelancet.com Vol 366 December 3, 2005 Marfan’s syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance. Approximately one in every 5000 individuals is affected, though this figure is probably an underestimate. The condition shows no predilection for any particular race or geographical background.
Nicola C. Ho +2 more
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Molecular Genetics & Genomic Medicine, 2023 Objective Loeys–Dietz syndrome (LDS) is a heritable disorder of connective tissue closely related to Marfan syndrome (MFS). LDS is caused by loss‐of‐function variants of genes that encode components of transforming growth factor‐β (TGF‐β) signaling ...
Satoshi Ishii +9 more
doaj +1 more source
Egyptian Journal of Chest Diseases and Tuberculosis, 2013 AbstractAn 18years old male patient, non-smoker, presented by shortness of breath of 1week duration.
Ahmed A. El-Masry +3 more
openaire +5 more sources
Combined spinal-epidural anesthetic management of delivery for marfan syndrome: Case report
Journal of Obstetric Anaesthesia and Critical Care, 2023 Pregnancy in a patient with Marfan syndrome is associated with risks, including cardiovascular complications. The hemodynamic changes of pregnancy during delivery are deleterious to Marfan syndrome patients.
Matea Malinovic +2 more
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Molecular Genetics & Genomic Medicine, 2021 Background Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS).
Bertrand Chesneau +11 more
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Musculoskeletal diseases in Marfan syndrome: a nationwide registry study
Orphanet Journal of Rare Diseases, 2022 Background Marfan syndrome is associated with abnormalities in the musculoskeletal system including scoliosis, pectus deformities, protrusio acetabuli, and foot deformities.
Niels H. Andersen +6 more
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Marfan syndrome and schizophrenia : a case report and literature review
European Psychiatry, 2022 Introduction Marfan syndrome is an autosomal dominant systemic disorder with connective tissue defects in multiple organ systems. Cardinal manifestations of this syndrome involve the cardiovascular, the skeletal and the ocular system.
S. Dhakouani +4 more
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British Journal of Ophthalmology, 1959 Abstract The case is presented of a 46-year-old Negro woman with the classic features of Marfan's syndrome: spider fingers, ectopia lentis, aneurysms of the sinuses of Valsalva, dilatation of the aortic ring, and aortic regurgitation. The occurrence of medial degeneration of the great vessels is now recognized to be the most important aspect of the ...
openaire +6 more sources
Frontiers in Cardiovascular Medicine, 2023 ObjectiveThe aortic root is the most frequent segment involved in Marfan syndrome. However, Marfan syndrome is a systemic hereditary connective tissue disorder, and knowledge regarding the outcomes of the native distal aorta after prophylactic aortic ...
Hao Liu +7 more
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