Showing 41 - 60 results of 746 for search '"Marfan syndrome"', query time: 0.14s Refine Results
  1. 41

    The molecular genetics of Marfan syndrome and related disorders. by Robinson, P, Arteaga-Solis, E, Baldock, C, Collod-Béroud, G, Booms, P, De Paepe, A, Dietz, H, Guo, G, Handford, P, Judge, D, Kielty, C, Loeys, B, Milewicz, D, Ney, A, Ramirez, F, Reinhardt, D, Tiedemann, K, Whiteman, P, Godfrey, M

    Published 2006
    “…Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene for fibrillin-1 (FBN1). …”
    Journal article
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    Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome by von Kodolitsch Y, De Backer J, Schüler H, Bannas P, Behzadi C, Bernhardt AM, Hillebr, M, Fuisting B, Sheikhzadeh S, Rybczynski M, Kölbel T, Püschel K, Blankenberg S, Robinson PN

    Published 2015-06-01
    “…To maximize the utility of the diagnostic criteria of MFS, a fair and transparent process of nosology development is essential. Keywords: Marfan syndrome, Ghent nosology, diagnosis, FBN1, mutation, aorta…”
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    Article
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    Marfan Syndrome in an Iranian Family: A Case Series by Mohammad Hossein Davari, Toba Kazemi

    Published 2015-07-01
    Subjects: “…Marfan syndrome…”
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    Article
  8. 48

    Gene screening in a Chinese family with Marfan syndrome by Wen-Jiao Xia, Xue Gong, Hong Gao, Wei Xiao

    Published 2016-05-01
    Subjects: “…Marfan syndrome…”
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    Article
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    Endothelial dysfunction in Marfan syndrome mice is restored by resveratrol by Arnout Mieremet, Miesje van der Stoel, Siyu Li, Evrim Coskun, Tsveta van Krimpen, Stephan Huveneers, Vivian de Waard

    Published 2022-12-01
    “…Abstract Patients with Marfan syndrome (MFS) develop thoracic aortic aneurysms as the aorta presents excessive elastin breaks, fibrosis, and vascular smooth muscle cell (vSMC) death due to mutations in the FBN1 gene. …”
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    Article
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    Inflammation aggravates disease severity in Marfan syndrome patients. by Teodora Radonic, Piet de Witte, Maarten Groenink, Vivian de Waard, Rene Lutter, Marco van Eijk, Marnix Jansen, Janneke Timmermans, Marlies Kempers, Arthur J Scholte, Yvonne Hilhorst-Hofstee, Maarten P van den Berg, J Peter van Tintelen, Gerard Pals, Marieke J H Baars, Barbara J M Mulder, Aeilko H Zwinderman

    Published 2012-01-01
    “…BACKGROUND: Marfan syndrome (MFS) is a pleiotropic genetic disorder with major features in cardiovascular, ocular and skeletal systems, associated with large clinical variability. …”
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    Article
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    DENTAL FINDINGS IN MARFAN SYNDROME: A CASE REPORT by Büşra BOSTANCI, Emre KORKUT, Nimet ÜNLÜ

    Published 2017-04-01
    Subjects: “…Marfan syndrome…”
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    Article
  16. 56

    Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability by Thomas Grange, Mélodie Aubart, Maud Langeois, Louise Benarroch, Pauline Arnaud, Olivier Milleron, Ludivine Eliahou, Marie-Sylvie Gross, Nadine Hanna, Catherine Boileau, Laurent Gouya, Guillaume Jondeau

    Published 2020-05-01
    “…Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with considerable inter- and intra-familial clinical variability. …”
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    Article
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    Neurophysiological assessment in a patient affected by Marfan syndrome by Emanuele Cartella, Simona De Salvo, Katia Micchìa, Laura Romeo, Anna Lisa Logiudice, Placido Bramanti, Silvia Marino

    Published 2020-12-01
    “…Background Marfan syndrome (MS) is a hereditary connective tissue disorder characterized by different multiorgan patterns. …”
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    Article
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    Marfan syndrome with acute abdomen: a case report by Beyazit Zencirci

    Published 2010-11-01
    “…Beyazit ZencirciKahramanmaras Sutcu Imam University Medical Faculty, Department of Anesthesiology and Reanimation Kahramanmaras, TurkeyIntroduction: Marfan syndrome is an autosomal dominant connective tissue disorder characterized by a combination of clinical manifestations in different organ systems. …”
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    Article