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Genetics of brain arteriovenous malformations and cerebral cavernous malformations.
Hongo, Hiroki; Miyawaki, Satoru; Teranishi, Yu; Ishigami, Daiichiro; Ohara, Kenta; Sakai, Yu; Shimada, Daisuke; Umekawa, Motoyuki; Koizumi, Satoshi; Ono, Hideaki; Nakatomi, Hirofumi; Saito, Nobuhito.
Afiliação
  • Hongo H; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
  • Miyawaki S; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan. smiya-nsu@m.u-tokyo.ac.jp.
  • Teranishi Y; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
  • Ishigami D; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
  • Ohara K; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
  • Sakai Y; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
  • Shimada D; Department of Neurosurgery, Kyorin University, Tokyo, Japan.
  • Umekawa M; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
  • Koizumi S; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
  • Ono H; Department of Neurosurgery, Fuji Brain Institute and Hospital, Shizuoka, Japan.
  • Nakatomi H; Department of Neurosurgery, Kyorin University, Tokyo, Japan.
  • Saito N; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
J Hum Genet ; 68(3): 157-167, 2023 Mar.
Article em En | MEDLINE | ID: mdl-35831630
ABSTRACT
Cerebrovascular malformations comprise abnormal development of cerebral vasculature. They can result in hemorrhagic stroke due to rupture of lesions as well as seizures and neurological defects. The most common forms of cerebrovascular malformations are brain arteriovenous malformations (bAVMs) and cerebral cavernous malformations (CCMs). They occur in both sporadic and inherited forms. Rapidly evolving molecular genetic methodologies have helped to identify causative or associated genes involved in genesis of bAVMs and CCMs. In this review, we highlight the current knowledge regarding the genetic basis of these malformations.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Malformações Arteriovenosas / Hemangioma Cavernoso do Sistema Nervoso Central Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Malformações Arteriovenosas / Hemangioma Cavernoso do Sistema Nervoso Central Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article