Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings
Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype....
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
de Grazia, Jose [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2017transfer abstract |
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| Schlagwörter: |
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| Umfang: |
5 |
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| Übergeordnetes Werk: |
Enthalten in: Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations - Muthuraja, P. ELSEVIER, 2017transfer abstract, official journal of the Japanese Society of Child Neurology, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:39 ; year:2017 ; number:1 ; pages:62-66 ; extent:5 |
| Links: |
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| DOI / URN: |
10.1016/j.braindev.2016.08.003 |
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| 520 | |a Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. | ||
| 520 | |a Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. | ||
| 650 | 7 | |a Germline mosaicism |2 Elsevier | |
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10.1016/j.braindev.2016.08.003 doi GBVA2017012000014.pica (DE-627)ELV030518067 (ELSEVIER)S0387-7604(16)30107-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.21 bkl de Grazia, Jose verfasserin aut Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings 2017transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. Germline mosaicism Elsevier Cerebrovascular disorders Elsevier Newborn Elsevier Magnetic resonance imaging Elsevier ACTA2 gene Elsevier Delgado, Ignacio oth Sanchez-Montanez, Angel oth Boronat, Susana oth del Campo, Miguel oth Vazquez, Elida oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:39 year:2017 number:1 pages:62-66 extent:5 https://doi.org/10.1016/j.braindev.2016.08.003 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 39 2017 1 62-66 5 045F 610 |
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10.1016/j.braindev.2016.08.003 doi GBVA2017012000014.pica (DE-627)ELV030518067 (ELSEVIER)S0387-7604(16)30107-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.21 bkl de Grazia, Jose verfasserin aut Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings 2017transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. Germline mosaicism Elsevier Cerebrovascular disorders Elsevier Newborn Elsevier Magnetic resonance imaging Elsevier ACTA2 gene Elsevier Delgado, Ignacio oth Sanchez-Montanez, Angel oth Boronat, Susana oth del Campo, Miguel oth Vazquez, Elida oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:39 year:2017 number:1 pages:62-66 extent:5 https://doi.org/10.1016/j.braindev.2016.08.003 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 39 2017 1 62-66 5 045F 610 |
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10.1016/j.braindev.2016.08.003 doi GBVA2017012000014.pica (DE-627)ELV030518067 (ELSEVIER)S0387-7604(16)30107-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.21 bkl de Grazia, Jose verfasserin aut Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings 2017transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. Germline mosaicism Elsevier Cerebrovascular disorders Elsevier Newborn Elsevier Magnetic resonance imaging Elsevier ACTA2 gene Elsevier Delgado, Ignacio oth Sanchez-Montanez, Angel oth Boronat, Susana oth del Campo, Miguel oth Vazquez, Elida oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:39 year:2017 number:1 pages:62-66 extent:5 https://doi.org/10.1016/j.braindev.2016.08.003 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 39 2017 1 62-66 5 045F 610 |
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10.1016/j.braindev.2016.08.003 doi GBVA2017012000014.pica (DE-627)ELV030518067 (ELSEVIER)S0387-7604(16)30107-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.21 bkl de Grazia, Jose verfasserin aut Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings 2017transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. Germline mosaicism Elsevier Cerebrovascular disorders Elsevier Newborn Elsevier Magnetic resonance imaging Elsevier ACTA2 gene Elsevier Delgado, Ignacio oth Sanchez-Montanez, Angel oth Boronat, Susana oth del Campo, Miguel oth Vazquez, Elida oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:39 year:2017 number:1 pages:62-66 extent:5 https://doi.org/10.1016/j.braindev.2016.08.003 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 39 2017 1 62-66 5 045F 610 |
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10.1016/j.braindev.2016.08.003 doi GBVA2017012000014.pica (DE-627)ELV030518067 (ELSEVIER)S0387-7604(16)30107-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.21 bkl de Grazia, Jose verfasserin aut Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings 2017transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. Germline mosaicism Elsevier Cerebrovascular disorders Elsevier Newborn Elsevier Magnetic resonance imaging Elsevier ACTA2 gene Elsevier Delgado, Ignacio oth Sanchez-Montanez, Angel oth Boronat, Susana oth del Campo, Miguel oth Vazquez, Elida oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:39 year:2017 number:1 pages:62-66 extent:5 https://doi.org/10.1016/j.braindev.2016.08.003 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 39 2017 1 62-66 5 045F 610 |
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Enthalten in Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations Amsterdam [u.a.] volume:39 year:2017 number:1 pages:62-66 extent:5 |
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Enthalten in Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations Amsterdam [u.a.] volume:39 year:2017 number:1 pages:62-66 extent:5 |
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Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations |
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Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations |
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Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings |
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Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings |
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de Grazia, Jose |
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Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations |
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cerebral arteriopathy associated with heterozygous arg179cys mutation in the acta2 gene: report in 2 newborn siblings |
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Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings |
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Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. |
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Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. |
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Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions. |
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Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings |
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Delgado, Ignacio Sanchez-Montanez, Angel Boronat, Susana del Campo, Miguel Vazquez, Elida |
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