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

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Title: Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.
Authors: Laterza D; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy., Zini A; IRCCS Istituto di Scienze Neurologiche di Bologna, Department of Neurology and Stroke Center, Maggiore Hospital, Bologna, Italy. Electronic address: a.zini@ausl.bologna.it., Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy., Dell'Acqua ML; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Vandelli L; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Bigliardi G; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Verganti L; Neuroradiology, Department. of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Vallone S; Neuroradiology, Department. of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Vincenzi C; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Rosafio F; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Ciolli L; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Calabrese O; Medical Genetics Unit, University of Modena and Reggio Emilia, Modena, Italy., Nichelli PF; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Picchetto L; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.
Source: European journal of medical genetics [Eur J Med Genet] 2019 Oct; Vol. 62 (10), pp. 103727. Date of Electronic Publication: 2019 Jul 18.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Laterza+D%22">Laterza D</searchLink>; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Ritelli+M%22">Ritelli M</searchLink>; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Zini+A%22">Zini A</searchLink>; IRCCS Istituto di Scienze Neurologiche di Bologna, Department of Neurology and Stroke Center, Maggiore Hospital, Bologna, Italy. Electronic address: a.zini@ausl.bologna.it.<br /><searchLink fieldCode="AU" term="%22Colombi+M%22">Colombi M</searchLink>; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Dell'Acqua+ML%22">Dell'Acqua ML</searchLink>; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Vandelli+L%22">Vandelli L</searchLink>; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Bigliardi+G%22">Bigliardi G</searchLink>; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Verganti+L%22">Verganti L</searchLink>; Neuroradiology, Department. of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Vallone+S%22">Vallone S</searchLink>; Neuroradiology, Department. of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Vincenzi+C%22">Vincenzi C</searchLink>; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Rosafio+F%22">Rosafio F</searchLink>; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Ciolli+L%22">Ciolli L</searchLink>; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Calabrese+O%22">Calabrese O</searchLink>; Medical Genetics Unit, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Nichelli+PF%22">Nichelli PF</searchLink>; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Picchetto+L%22">Picchetto L</searchLink>; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.
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