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J-GLOBAL ID：201902267504016651   Reference number：19A2279546

Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome

Loeys-Dietz症候群の成人患者における脳血管イベント後に同定された新規病原性TGF1およびSmad3変異体【JST・京大機械翻訳】

Author (15)： Laterza Domenico (Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile ”S. Agostino-Estense”, Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy) ,  Ritelli Marco (Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy) ,  Zini Andrea (IRCCS Istituto di Scienze Neurologiche di Bologna, Department of Neurology and Stroke Center, Maggiore Hospital, Bologna, Italy) ,  Colombi Marina (Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy) ,  Dell'Acqua Maria Luisa (Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile ”S. Agostino-Estense”, Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy) ,  Vandelli Laura (Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile ”S. Agostino-Estense”, Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy) ,  Bigliardi Guido (Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile ”S. Agostino-Estense”, Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy) ,  Verganti Luca (Neuroradiology, Department. of Neuroscience, Ospedale Civile ”S. Agostino-Estense”, Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy) ,  Vallone Stefano (Neuroradiology, Department. of Neuroscience, Ospedale Civile ”S. Agostino-Estense”, Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy) ,  Vincenzi Chiara (Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile ”S. Agostino-Estense”, Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy) ,  Rosafio Francesca (Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile ”S. Agostino-Estense”, Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy) ,  Ciolli Ludovico (Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile ”S. Agostino-Estense”, Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy) ,  Calabrese Olga (Medical Genetics Unit, University of Modena and Reggio Emilia, Modena, Italy) ,  Nichelli Paolo Frigio (Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile ”S. Agostino-Estense”, Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy) ,  Picchetto Livio (Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile ”S. Agostino-Estense”, Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy)
Material： European Journal of Medical Genetics  (Eur J Med Genet)
Volume： 62  Issue： 10  Page： Null  Publication year： 2019 
JST Material Number： A1224A  ISSN： 1769-7212  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Loeys-Dietz syndrome (LDS) is ...

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Thesaurus term： man ,  anticoagulation therapy ,  Death ,  cerebral apoplexy ,  excision ,  vein ,  follow-up study ,  gene ,  aneurysm ,  cerebral infarction ,  migraine ,  complication ,  Heredity ,  *adult (person) ,  computed tomography ,  drug therapy ,  cerebrovascular disorder
Semi thesaurus term： computed tomography , 【Automatic Indexing@JST】

Author keywords (5)： Loeys-dietz syndrome ,  Stroke ,  Arterial dissection ,  TGFBR1 ,  SMAD3

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Genetic variation  (EC01030Y)

Terms in the title (9)： Loeys-Dietz症候群 ,  成人 ,  患者 ,  脳血管 ,  イベント ,  同定 ,  病原性 ,  Smad3 ,  変異体