Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation

被引：0
|
作者：
Shantan Reddy
Michael B. Gorin
Tara A. McCannel
Irena Tsui
Bradley R. Straatsma
机构：
[1] NYU Langone Medical Center,Jules Stein Eye Institute
[2] University of California,undefined
来源：
Graefe's Archive for Clinical and Experimental Ophthalmology | 2010年 / 248卷
关键词：
Cerebral cavernous malformation; KRIT1; Mutation; Retinal cavernous hemangioma;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：1359 / 1361
页数：2
相关论文
共 50 条
  • [41] Novel CCM1 ( KRIT1 ) Mutation Detection in Brazilian Familial Cerebral Cavernous Malformation: Different Genetic Variants in Inflammation, Oxidative Stress, and Drug Metabolism Genes Affect Disease Aggressiveness
    Fontes-Dantas, Fabricia Lima
    Galvao, Gustavo da Fontoura
    da Silva, Elielson Veloso
    Alves-Leon, Soniza
    da Silva Rego, Claudia Cecilia
    Garcia, Diogo Gomes
    Marques, Suelen Adriani
    Blanco Martinez, Ana Maria
    da Silva, Marcello Reis
    de Souza, Jorge Marcondes
    WORLD NEUROSURGERY, 2020, 138 : 535 - +
  • [42] Familial Cerebral Cavernous Angiomas: Clinical and Genetic Features in a Chinese Family with a Frame-Shift Mutation in the CCM1 Gene (krit1)
    Hui Zhu
    Yingjie Guo
    Xuemin Feng
    Rensheng Zhang
    Chunkui Zhou
    Guibo Li
    Jingyao Liu
    Journal of Molecular Neuroscience, 2014, 54 : 790 - 795
  • [43] Cerebral cavernous malformations -: Mutations in Krit1
    Verlaan, DJ
    Davenport, WJ
    Stefan, H
    Sure, U
    Siegel, AM
    Rouleau, GA
    NEUROLOGY, 2002, 58 (06) : 853 - 857
  • [44] A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations
    Lanfranconi, Silvia
    Ronchi, Dario
    Ahmed, Naghia
    Civelli, Vittorio
    Basilico, Paola
    Bresolin, Nereo
    Comi, Giacomo Pietro
    Corti, Stefania
    BMC NEUROLOGY, 2014, 14
  • [45] Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation
    Verlaan, DJ
    Siegel, AM
    Rouleau, GA
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (06) : 1564 - 1567
  • [46] CCM1 gene deletion identified by MLPA in cerebral cavernous malformation
    Gaetzner, Sabine
    Stahl, Sonja
    Sueruecue, Oguzkan
    Schaafhausen, Anne
    Halliger-Keller, Birgit
    Bertalanffy, Helmut
    Sure, Ulrich
    Felbor, Ute
    NEUROSURGICAL REVIEW, 2007, 30 (02) : 155 - 159
  • [47] CCM1 gene deletion identified by MLPA in cerebral cavernous malformation
    Sabine Gaetzner
    Sonja Stahl
    Oguzkan Sürücü
    Anne Schaafhausen
    Birgit Halliger-Keller
    Helmut Bertalanffy
    Ulrich Sure
    Ute Felbor
    Neurosurgical Review, 2007, 30 : 155 - 160
  • [48] Cerebral cavernous malformation: Clinical report of two families with variable phenotype associated with KRIT1 mutation
    Balasubramanian, Meena
    Jain, Vani
    Glover, Rhona C.
    Robertson, Lisa K.
    Mordekar, Santosh R.
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2013, 17 (06) : 661 - 665
  • [49] Mutations in KRIT1 in familial cerebral cavernous malformations
    Zhang, J
    Clatterbuck, RE
    Rigamonti, D
    Dietz, HC
    NEUROSURGERY, 2000, 46 (05) : 1272 - 1277
  • [50] Large Cystic Cavernous Malformation in Infant with Novel KRIT1 Gene Abnormality
    Lu, Victor M.
    Daniels, David J.
    WORLD NEUROSURGERY, 2019, 130 : 304 - 305
12345