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
  • [1] Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation
    Reddy, Shantan
    Gorin, Michael B.
    McCannel, Tara A.
    Tsui, Irena
    Straatsma, Bradley R.
    GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2010, 248 (09) : 1359 - 1361
  • [2] A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma
    Kitzmann, Anna S.
    Pulido, Jose S.
    Ferber, Matthew J.
    Highsmith, W. Edward
    Babovic-Vuksanovic, Dusica
    OPHTHALMIC GENETICS, 2006, 27 (04) : 157 - 159
  • [3] Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation
    Marto, Joao Pedro
    Gil, Ines
    Calado, Sofia
    Viana-Baptista, Miguel
    CASE REPORTS IN NEUROLOGY, 2016, 8 (03): : 193 - 198
  • [4] Familial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family
    Marques, Ines Rosario
    Antunes, Francisco
    Ferreira, Nadine
    Grunho, Miguel
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2017, 53 : 72 - 74
  • [5] Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations
    Wang, Kang
    Wu, Dengchang
    Zhang, Baorong
    Zhao, Guohua
    FRONTIERS IN NEUROLOGY, 2018, 9
  • [6] First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient
    Galvao, Gustavo da Fontoura
    da Silva, Elielson Veloso
    Fontes-Dantas, Fabricia Lima
    Castro Filho, Ricardo
    Alves-Leon, Soniza
    de Souza, Jorge Marcondes
    WORLD NEUROSURGERY, 2020, 142 : 481 - +
  • [7] A Novel KRIT1 Gene Mutation in a Patient with Cerebral and Multiple Spinal Cavernous Malformations
    Lee, Yong-Wha
    Lee, Seung-Tae
    Cha, Jang-Gyu
    Park, Jeong-Ho
    Jeon, Byung Ryul
    Lee, You Kyoung
    Kim, Jong-Won
    Ki, Chang-Seok
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2010, 40 (03) : 290 - 294
  • [8] Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/ MGC4607 and their clinical implications in Cerebral Cavernous malformations
    Galvao, Gustavo da Fontoura
    Trefilio, Luisa Menezes
    Salvio, Andreza Lemos
    da Silva, Elielson Veloso
    Alves-Leon, Soniza Vieira
    Fontes-Dantas, Fabricia Lima
    de Souza, Jorge Marcondes
    JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 2024, 33 (11)
  • [9] Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation
    Liu, Zhenxing
    Guo, Kaikai
    Hu, Xuebin
    Zhang, Xianqin
    FRONTIERS IN ONCOLOGY, 2023, 13
  • [10] 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
12345