Literature DB >> 15079030

CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.

D J Verlaan1, S B Laurent, U Sure, H Bertalanffy, E Andermann, F Andermann, G A Rouleau, A M Siegel.   

Abstract

Cerebral cavernous malformations (CCM) are CNS vascular anomalies associated with seizures, headaches, and hemorrhagic strokes. The CCM1 gene was screened in 35 sporadic cases with either single or multiple CCM. It was found that 29% of the individuals with multiple CCM have a CCM1 mutation, whereas cases with only one malformation have none. Sporadic cases with multiple malformations warrant the same approach as individuals who have a familial history of CCM.

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15079030     DOI： 10.1212/01.wnl.0000118299.55857.bb

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  14 in total

Review 1.  From germline towards somatic mutations in the pathophysiology of vascular anomalies.

Authors:  Nisha Limaye; Laurence M Boon; Miikka Vikkula
Journal:  Hum Mol Genet       Date:  2009-04-15       Impact factor: 6.150

Review 2.  Genetics of cerebral cavernous malformations: current status and future prospects.

Authors:  H Choquet; L Pawlikowska; M T Lawton; H Kim
Journal:  J Neurosurg Sci       Date:  2015-04-22       Impact factor: 2.279

3.  Large germline deletions and duplication in isolated cerebral cavernous malformation patients.

Authors:  U Felbor; S Gaetzner; D J Verlaan; R Vijzelaar; G A Rouleau; A M Siegel
Journal:  Neurogenetics       Date:  2007-01-09       Impact factor: 2.660

4.  Mutations of RNF213 are responsible for sporadic cerebral cavernous malformation and lead to a mulberry-like cluster in zebrafish.

Authors:  Jing Lin; Jie Liang; Jun Wen; Man Luo; Jiaoxing Li; Xunsha Sun; Xiaowei Xu; Jianli Li; Dongxian Wang; Jie Wang; Huimin Chen; Rong Lai; Fengyin Liang; Chuan Li; Fei Ye; Jingjing Zhang; Jinsheng Zeng; Shulan Yang; Wenli Sheng
Journal:  J Cereb Blood Flow Metab       Date:  2020-04-04       Impact factor: 6.200

Review 5.  Genetics of cerebral cavernous malformations.

Authors:  Nicholas W Plummer; Jon S Zawistowski; Douglas A Marchuk
Journal:  Curr Neurol Neurosci Rep       Date:  2005-09       Impact factor: 5.081

Review 6.  Cerebral cavernous malformation: new molecular and clinical insights.

Authors:  N Revencu; M Vikkula
Journal:  J Med Genet       Date:  2006-03-29       Impact factor: 6.318

7.  Clinical impact of CCM mutation detection in familial cavernous angioma.

Authors:  Oguzkan Sürücü; Ulrich Sure; Sabine Gaetzner; Sonja Stahl; Ludwig Benes; Helmut Bertalanffy; Ute Felbor
Journal:  Childs Nerv Syst       Date:  2006-09-16       Impact factor: 1.475

8.  [Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families].

Authors:  A M Siegel; H Bertalanffy; J J Dichgans; C E Elger; H Hopf; N Hopf; M Keidel; A Kleider; G Nowak; R A Pfeiffer; J Schramm; S Spuck; H Stefan; U Sure; C R Baumann; G A Rouleau; D J Verlaan; E Andermann; F Andermann
Journal:  Nervenarzt       Date:  2005-02       Impact factor: 1.214

9.  The angioarchitectural factors of the cerebral developmental venous anomaly; can they be the causes of concurrent sporadic cavernous malformation?

Authors:  Yoo Jin Hong; Tae-Sub Chung; Sang Hyun Suh; Chul Hwan Park; Geetanjali Tomar; Kwon Duk Seo; Keung Sik Kim; In Kook Park
Journal:  Neuroradiology       Date:  2010-01-21       Impact factor: 2.804

10.  Multiple cerebral cavernous haemangiomas in an infant.

Authors:  Poonam Verma; Rashid Saleem; Pooja Harijan; Nahin Hussain
Journal:  J Pediatr Neurosci       Date:  2012-09
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.