文献

J-GLOBAL ID：201702237046909644   整理番号：17A0578892

対称性の視床石灰化:3例の全エクソームシーケンシング否定例

Symmetrical thalamic calcification: A trio whole exome sequencing negative series

著者 (8件)： Gorman Kathleen Mary (Department of Neurology and Clinical Neurophysiology, Children’s University Hospital, Temple Street, Dublin 1, Ireland) ,  Gorman Kathleen Mary (Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland) ,  Aird John James (Department of Neuropathology, Beaumont Hospital, Dublin, Ireland) ,  Conroy Judith (Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland) ,  Devaney Deirdre (Department of Pathology, Children’s University Hospital, Temple Street, Dublin 1, Ireland) ,  Farrell Michael (Department of Neuropathology, Beaumont Hospital, Dublin, Ireland) ,  King Mary Dolores (Department of Neurology and Clinical Neurophysiology, Children’s University Hospital, Temple Street, Dublin 1, Ireland) ,  King Mary Dolores (Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland)
資料名： Brain & Development  (Brain & Development)
巻： 39  号： 5  ページ： 426-430  発行年： 2017年05月 
JST資料番号： W0814A  ISSN： 0387-7604  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 要約 対称性の視床石灰化,または左右対称的な視床神経膠症は,...

シソーラス用語： ヒト ,...
準シソーラス用語： 左右対称性 ,...

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著者キーワード (3件)： Symmetrical thalamic calcification ,  Bilateral symmetrical thalamic gliosis ,  Whole exome sequencing

分類 (1件)： 婦人科疾患,妊産婦の疾患  (GS03000D)

引用文献 (10件)：

• Rosales, R.K., Riggs, H.E. Symmetrical thalamic degeneration in infants. J Neuropathol Exp Neurol. 1962;21:372-6.
• Norman, M.G. Antenatal neuronal loss and gliosis of the reticular formation, thalamus, and hypothalamus. A report of three cases. Neurology. 1972;22:910-6.
• Ambler, M., O'Neill, W. Symmetrical infantile thalamic degeneration with focal cytoplasmic calcification. Acta Neuropathol. 1975;33:1-8.
• Abuelo, D.N., Barsel-Bowers, G., Tutschka, B.G., Ambler, M., Singer, D.B. Symmetrical infantile thalamic degeneration in two sibs. J Med Genet. 1981;18:448-50.
• Jennekens, F.G., Barth, P.G., Fleury, P., Veldman, H., Keuning, J.F., Westdorp, J. Axonal dystrophy in a case of connatal thalamic and brain stem degeneration. Acta Neuropathol. 1984;64:68-71.

タイトルに関連する用語 (4件)： 対称性 ,  視床 ,  石灰化 ,  エクソームシーケンシング